This document provides information about critical congenital heart diseases (CCHD). It discusses the importance of CCHD as heart defects are a leading cause of birth defect deaths. Approximately 1 in 4 babies born with a heart defect has a CCHD, which often requires surgery or procedures in the first year of life. The document outlines the primary and secondary targets for CCHD screening, including conditions like hypoplastic left heart syndrome and transposition of the great arteries. Risk factors for CCHD can include genetic conditions and environmental exposures. Timely screening and treatment of CCHDs is important to prevent disability and death in newborns.
This document discusses the management of cyanotic patients. It covers several topics:
1. Causes of cyanosis including cardiac and non-cardiac causes such as lung diseases and neurological issues.
2. Evaluation of cyanotic newborns including detecting cyanosis and checking oxygen saturation levels.
3. Complications of cyanosis such as cyanotic spells, neurological complications, erythrocytosis, and anemia. Management of these complications is also discussed.
Approach to cyanotic congenital heart diseaseikramdr01
This document provides guidance on diagnosing cyanotic congenital heart disease through a practical clinical approach. It emphasizes the importance of suspecting heart disease in any child who does not clearly fit the initial diagnosis or has significant desaturation. Key signs to look for include cyanosis, differential pulse oximetry readings, and clues from chest X-ray and ECG. The approach involves classifying heart defects based on hemodynamics like pulmonary blood flow and systemic saturation. For neonates, focus is on duct-dependent lesions presenting with cyanosis or shock. Beyond the neonatal period, diagnosis involves assessing cyanosis and pulmonary congestion to identify lesions like left-to-right shunts, tetralogy of Fallot physiology,
Critical Congenital Heart Disease (CCHD) refers to several heart defects present at birth that require intervention. Some key points:
- CCHD includes defects where blood flow depends on an open ductus arteriosus after birth, such as Tetralogy of Fallot.
- Clinical presentation varies but may include cyanosis, heart murmur, respiratory distress. Diagnosis involves tests like echocardiogram, EKG, chest x-ray.
- Management depends on the specific defect but may include prostaglandin E1 to keep the ductus arteriosus open, then surgery to repair the anatomical issues. Early detection through newborn pulse oximetry screening can help identify cases
1. The pediatric ECG document reviews cardiac physiology and ECG findings in children of different ages. It discusses how the size of the ventricles changes from birth through childhood and how this impacts ECG measurements.
2. Key aspects of the normal pediatric ECG are described, including typical heart rates, axis shifts, and "juvenile" T wave patterns. Common abnormalities seen in pediatric patients such as chamber enlargement, conduction abnormalities, and arrhythmias are also reviewed.
3. The document provides guidance on interpreting ECG findings and correlating them to possible diagnoses in children, taking into account how measurements may differ based on age. Examples of ECG strips are included to illustrate various normal and abnormal
1) Neonatal shock is characterized by an imbalance between oxygen delivery and demand, leading to tissue hypoxia. Myocardial dysfunction, abnormal vasoregulation, and hypovolemia are common causes.
2) Pathophysiology includes an immature myocardium with fewer contractile elements and higher basal contractility, as well as complex vascular smooth muscle tone regulation. Relative adrenal insufficiency also contributes.
3) Clinical assessment of shock includes vital signs, perfusion markers like capillary refill time and lactate, and echocardiography to evaluate cardiac function and filling. Goal-directed management targets normalization of these parameters.
This document discusses various types of arrhythmias that can occur in children. It begins by describing the normal electrical conduction system of the heart and then discusses different types of tachyarrhythmias and bradyarrhythmias. Common pediatric tachyarrhythmias mentioned include supraventricular tachycardia, atrial flutter, atrial fibrillation, ventricular tachycardia, and ventricular fibrillation. Long QT syndrome is also summarized. Treatment options for unstable and stable rhythms are provided.
This document provides an overview of pediatric cardiology for medical students. It discusses the fetal, transitional, and postnatal circulations and how congenital heart defects disrupt normal circulation. It describes left-to-right shunts like VSDs and PDA that cause left heart enlargement and right-to-left shunts like Tetralogy of Fallot that cause cyanosis. Obstructive lesions like critical aortic stenosis that require ductal flow are discussed. The physical exam findings for different defects are outlined along with innocent murmurs and hereditary cardiac conditions.
This document discusses ductus arteriosus dependent congenital heart diseases. It begins by defining ductus dependent circulation as abnormalities where ductus arteriosus patency is required to maintain systemic perfusion. It then describes the anatomy and physiology of the ductus arteriosus, noting its role in diverting blood from the pulmonary to systemic circulation in fetal life. The document outlines conditions of ductus dependent pulmonary and systemic blood flow. It discusses goals of management as minimizing hypoxemia and balancing pulmonary and systemic circulations. Maintaining ductal patency with prostaglandins is emphasized as critical for stabilization in ductus dependent lesions.
This document discusses the management of cyanotic patients. It covers several topics:
1. Causes of cyanosis including cardiac and non-cardiac causes such as lung diseases and neurological issues.
2. Evaluation of cyanotic newborns including detecting cyanosis and checking oxygen saturation levels.
3. Complications of cyanosis such as cyanotic spells, neurological complications, erythrocytosis, and anemia. Management of these complications is also discussed.
Approach to cyanotic congenital heart diseaseikramdr01
This document provides guidance on diagnosing cyanotic congenital heart disease through a practical clinical approach. It emphasizes the importance of suspecting heart disease in any child who does not clearly fit the initial diagnosis or has significant desaturation. Key signs to look for include cyanosis, differential pulse oximetry readings, and clues from chest X-ray and ECG. The approach involves classifying heart defects based on hemodynamics like pulmonary blood flow and systemic saturation. For neonates, focus is on duct-dependent lesions presenting with cyanosis or shock. Beyond the neonatal period, diagnosis involves assessing cyanosis and pulmonary congestion to identify lesions like left-to-right shunts, tetralogy of Fallot physiology,
Critical Congenital Heart Disease (CCHD) refers to several heart defects present at birth that require intervention. Some key points:
- CCHD includes defects where blood flow depends on an open ductus arteriosus after birth, such as Tetralogy of Fallot.
- Clinical presentation varies but may include cyanosis, heart murmur, respiratory distress. Diagnosis involves tests like echocardiogram, EKG, chest x-ray.
- Management depends on the specific defect but may include prostaglandin E1 to keep the ductus arteriosus open, then surgery to repair the anatomical issues. Early detection through newborn pulse oximetry screening can help identify cases
1. The pediatric ECG document reviews cardiac physiology and ECG findings in children of different ages. It discusses how the size of the ventricles changes from birth through childhood and how this impacts ECG measurements.
2. Key aspects of the normal pediatric ECG are described, including typical heart rates, axis shifts, and "juvenile" T wave patterns. Common abnormalities seen in pediatric patients such as chamber enlargement, conduction abnormalities, and arrhythmias are also reviewed.
3. The document provides guidance on interpreting ECG findings and correlating them to possible diagnoses in children, taking into account how measurements may differ based on age. Examples of ECG strips are included to illustrate various normal and abnormal
1) Neonatal shock is characterized by an imbalance between oxygen delivery and demand, leading to tissue hypoxia. Myocardial dysfunction, abnormal vasoregulation, and hypovolemia are common causes.
2) Pathophysiology includes an immature myocardium with fewer contractile elements and higher basal contractility, as well as complex vascular smooth muscle tone regulation. Relative adrenal insufficiency also contributes.
3) Clinical assessment of shock includes vital signs, perfusion markers like capillary refill time and lactate, and echocardiography to evaluate cardiac function and filling. Goal-directed management targets normalization of these parameters.
This document discusses various types of arrhythmias that can occur in children. It begins by describing the normal electrical conduction system of the heart and then discusses different types of tachyarrhythmias and bradyarrhythmias. Common pediatric tachyarrhythmias mentioned include supraventricular tachycardia, atrial flutter, atrial fibrillation, ventricular tachycardia, and ventricular fibrillation. Long QT syndrome is also summarized. Treatment options for unstable and stable rhythms are provided.
This document provides an overview of pediatric cardiology for medical students. It discusses the fetal, transitional, and postnatal circulations and how congenital heart defects disrupt normal circulation. It describes left-to-right shunts like VSDs and PDA that cause left heart enlargement and right-to-left shunts like Tetralogy of Fallot that cause cyanosis. Obstructive lesions like critical aortic stenosis that require ductal flow are discussed. The physical exam findings for different defects are outlined along with innocent murmurs and hereditary cardiac conditions.
This document discusses ductus arteriosus dependent congenital heart diseases. It begins by defining ductus dependent circulation as abnormalities where ductus arteriosus patency is required to maintain systemic perfusion. It then describes the anatomy and physiology of the ductus arteriosus, noting its role in diverting blood from the pulmonary to systemic circulation in fetal life. The document outlines conditions of ductus dependent pulmonary and systemic blood flow. It discusses goals of management as minimizing hypoxemia and balancing pulmonary and systemic circulations. Maintaining ductal patency with prostaglandins is emphasized as critical for stabilization in ductus dependent lesions.
The document summarizes various congenital heart defects that can cause cyanosis in infants, including tetralogy of Fallot, transposition of the great arteries, truncus arteriosus, total anomalous pulmonary venous return, tricuspid atresia, pulmonary atresia, and Ebstein's anomaly. It describes the characteristic features, causes, evaluations, and treatments for each condition. For the scenario presented, the assistant would start prostaglandin E1 treatment and call cardiology to perform an echocardiogram to determine the specific heart defect.
This document discusses cyanosis, which refers to a bluish discoloration of the skin and mucous membranes due to poorly oxygenated blood in the circulation. Central cyanosis occurs when deoxygenated blood enters the systemic circulation due to a heart defect or lung disease. Common causes of cyanosis include congenital heart defects, lung diseases, methemoglobinemia, and anemia. The differential diagnosis and workup involves differentiating cardiac from pulmonary etiologies using physical exam findings, oxygen saturation testing, blood gases, imaging, and echocardiography. Emergency management of cyanotic spells focuses on increasing systemic vascular resistance through positioning, oxygen, fluids, morphine, phenylephrine, or beta blockers. Long
Persistent pulmonary hypertension of the newborn (PPHN) is a major problem in neonatal intensive care units that can lead to death or neurological injury in newborns. It occurs when the pulmonary circulation fails to transition from the high resistance fetal state. Causes include meconium aspiration syndrome, idiopathic PPHN, and pulmonary hypoplasia from conditions like congenital diaphragmatic hernia. Treatment involves optimizing oxygenation and cardiac function along with pulmonary vasodilators like inhaled nitric oxide. Future therapies may include phosphodiesterase inhibitors and prostacyclin analogs to further reduce pulmonary hypertension in newborns.
Approach to child with congenital heart diseaseAnkur Puri
This document provides guidance on evaluating a child with congenital heart disease. It outlines key questions to answer, including whether the condition is cyanotic or acyanotic. A thorough history is important, including prenatal, natal, and postnatal details. A physical exam involves assessing vital signs, growth, precordial examination, palpation of pulses and thrills, and auscultation of heart sounds and murmurs. The goal is to characterize the nature and severity of the congenital heart condition.
This document discusses cyanotic congenital heart disease (CCHD), which is defined as a cardiovascular birth defect that results in systemic arterial desaturation due to a right-to-left shunt. CCHDs can be classified based on pulmonary blood flow as having reduced, increased, or near normal flow. Common types of CCHDs with reduced pulmonary blood flow include tetralogy of Fallot and pulmonary atresia. CCHDs with increased pulmonary blood flow can present with features of congestive heart failure. The clinical approach to CCHDs involves delineating the anatomical and physiological abnormalities through assessment of anatomy, pulmonary circulation, systemic circulation, and ventricular function.
CONGENITAL HEART DISEASE: APPROACH TO DIAGNOSISNizam Uddin
This document discusses the diagnosis and classification of congenital heart disease. It begins by classifying CHDs into acyanotic or cyanotic types based on whether pulmonary blood flow is increased, normal, decreased, or increased. It emphasizes the importance of using a pulse oximeter to detect cyanosis, as the human eye cannot reliably detect low oxygen saturation above 85-93%. The document then discusses specific CHD types like atrial and ventricular septal defects, patent ductus arteriosus, tetralogy of Fallot, and transposition of the great arteries. It provides guidance on when surgical intervention is indicated for different CHDs. Overall, the document provides an overview of evaluating and classifying CHDs, with a focus on
Persistent pulmonary hypertension of newborn PPHNChandan Gowda
Persistent pulmonary hypertension of the newborn (PPHN) results from failure of the normal decrease in pulmonary vascular resistance after birth, causing right-to-left shunting of blood and hypoxemia. It can be caused by underdevelopment, maldevelopment, or maladaptation of the pulmonary vasculature. Clinical features include cyanosis and respiratory distress within the first 24 hours of life. Diagnosis involves echocardiography demonstrating elevated pulmonary pressures and responding poorly to oxygen challenges. Treatment aims to reduce PVR through ventilation strategies, medications, and potentially extracorporeal membrane oxygenation.
This document discusses approaches to diagnosing and treating hypertension in children. It defines hypertension and outlines stages of severity. In infants and young children, hypertension is usually secondary to an underlying condition, while adolescents can develop primary or essential hypertension. Evaluation involves measuring blood pressure properly, considering causes of secondary hypertension, assessing for target organ damage like left ventricular hypertrophy, and determining if hypertension is primary or secondary. Treatment involves lifestyle changes, weight management if overweight, and potentially medications to lower blood pressure below guidelines.
This document provides information on the approach and assessment of acyanotic congenital heart diseases in children. It discusses:
1. The typical presenting complaints which include feeding difficulties, respiratory distress, easy fatigability, recurrent infections, and failure to thrive.
2. The physical exam findings to assess including inspection, palpation of pulses, blood pressure, jugular venous pressure, auscultation of heart sounds and murmurs.
3. The classification of acyanotic heart diseases which include left-to-right shunts and outflow obstructions. The most common types are also listed.
The causes listed are all potential causes for syncope in children. The most common causes are neurocardiogenic syncope, breath-holding spells, and seizures. Other important considerations include cardiac causes like long QT syndrome, hypertrophic cardiomyopathy, and aortic stenosis.
cyanotic and acyanotic Congenital heart disease for undergraduated student uo...Azad Haleem
This document provides information on various types of congenital heart defects (CHDs), including descriptions, classifications, pathophysiology, clinical manifestations, investigations, and management. It discusses ventricular septal defects (VSDs), atrial septal defects (ASDs), patent ductus arteriosus (PDA), coarctation of the aorta, tetralogy of Fallot, and cyanosis. VSDs, ASDs, and PDA are examples of acyanotic left-to-right shunt lesions, while tetralogy of Fallot is a common cyanotic heart defect. Clinical features, imaging findings, and treatment approaches are described for each condition.
This document provides information on Ebstein's anomaly, including its anatomy, embryology, clinical presentation, diagnosis, and natural history. Some key points:
- Ebstein's anomaly is a congenital defect involving downward displacement of the tricuspid valve into the right ventricle. This can cause dilation of the right atrium and dysfunction of the right ventricle.
- Clinical presentation varies from neonatal congestive heart failure to later cyanosis, arrhythmias, and right heart failure in adults. Associated defects are common.
- Diagnosis is made through echocardiogram demonstrating displacement of the tricuspid valve leaflets. Other tests like ECG, chest x-ray, and
Pulmonary hypertension in infants and children can be neonatal, cardiac-related, acquired, or idiopathic. The gold standard test to confirm pulmonary hypertension is cardiac catheterization. Current pharmacologic treatments target three pathways - the endothelin pathway, nitric oxide pathway, and prostacyclin pathway. Combination drug therapy and non-pharmacologic options like atrial septostomy may also be used, but pulmonary hypertension remains a challenging condition to treat in children.
This document discusses pediatric cardiac arrhythmias. Some key points:
- Arrhythmias are classified based on site of origin such as the sinus node, atria, AV node or ventricles. Common arrhythmias include sinus tachycardia, supraventricular tachycardia, and ventricular tachycardia.
- Presentation of arrhythmias in children varies by age. Neonates may experience atrial flutter or ectopic atrial tachycardia. Older children may experience WPW syndrome or AV nodal re-entrant tachycardia.
- Diagnosis involves analyzing the ECG for heart rate, QRS width, and P wave relationship to the
Tetralogy of Fallot is the most common cyanotic heart disease characterized by four features: ventricular septal defect, overriding aorta, infundibular pulmonary stenosis, and right ventricular hypertrophy. It presents with cyanosis that is more frequent in the second half of the first year and hypercyanotic spells after exercise or positions like crying and squatting. Treatment involves palliative surgery like Blalock-Taussig shunt initially, followed by complete repair around 6 months of age. Management of hypercyanotic spells includes medications like morphine, oxygen, and positioning changes.
This document discusses supraventricular tachycardia (SVT) in pediatric patients. SVT is the most common abnormal heart rhythm seen in children and the most common arrhythmia requiring treatment. It is usually caused by re-entry mechanisms involving an accessory pathway or the atrioventricular node. Diagnosis involves obtaining an electrocardiogram during episodes to identify P wave patterns. Treatment options include vagal maneuvers, medications like adenosine, calcium channel blockers, or beta blockers, and cardioversion. Radiofrequency ablation can provide a cure for refractory or recurrent cases. Proper diagnosis of the underlying SVT mechanism guides selection of the most appropriate treatment approach.
This document discusses hyperkalemia, or high levels of potassium in the blood. It covers the normal physiology of potassium balance in the body, including intake through foods, absorption in the intestines, and excretion primarily through the kidneys under regulation of the hormone aldosterone. Causes of hyperkalemia include reduced kidney function, medications that interfere with potassium excretion, and conditions that cause a shift of potassium out of cells. The document provides details on evaluating, diagnosing, and classifying different severities of hyperkalemia based on serum potassium levels.
1. The document discusses the approach to diagnosing and managing patients with congenital cyanotic heart disease. Common cyanotic lesions include tetralogy of Fallot, transposition of the great arteries, and tricuspid atresia.
2. Physical examination focuses on signs of cyanosis, murmurs, organomegaly or congestive heart failure. Investigations include chest X-ray, ECG, echocardiogram and arterial blood gas. Management involves ruling out other causes, providing supplemental oxygen, addressing congestive heart failure, and definitive surgical repair if possible.
3. Case scenarios discuss specific patients with features of tetralogy of Fallot, transposition of the great arteries with ventricular sept
Congenital cyanotic heart disease approachVarsha Shah
This document discusses cyanotic congenital heart disease (CCHD). It notes that the incidence of moderate to severe CHD is 6-8 per 1,000 live births. The top five diagnoses presenting in the first week of life include transposition of the great arteries, hypoplastic left ventricle, tetralogy of Fallot, coarctation of the aorta, and ventricular septal defect. Clinical findings, ECG patterns, and prognosis after surgery are reviewed for various CCHDs, including tetralogy of Fallot, transposition of the great arteries, tricuspid atresia, Ebstein's anomaly, and hypoplastic left heart syndrome. Medical management including prostagland
Cyanotic heart defects allow unoxygenated blood to enter the systemic circulation, causing cyanosis (blue skin). Infants with defects dependent on a patent ductus arteriosus for blood flow can deteriorate quickly as the ductus closes, requiring medical intervention. Prostaglandin E1 preserves ductal patency and improves oxygen levels. Long-term management may involve surgical procedures like shunt placement or defect repair. Uncorrected defects can lead to complications such as polycythemia, anemia, clotting issues and hypercyanotic episodes.
I'm afraid I don't have enough information to answer these questions. The document provided is an overview of techniques for detecting intracardiac shunts and quantifying cardiac output and shunt flow. It does not include a specific patient case. Could you please provide more details about a patient for me to reference in answering your questions?
The document summarizes various congenital heart defects that can cause cyanosis in infants, including tetralogy of Fallot, transposition of the great arteries, truncus arteriosus, total anomalous pulmonary venous return, tricuspid atresia, pulmonary atresia, and Ebstein's anomaly. It describes the characteristic features, causes, evaluations, and treatments for each condition. For the scenario presented, the assistant would start prostaglandin E1 treatment and call cardiology to perform an echocardiogram to determine the specific heart defect.
This document discusses cyanosis, which refers to a bluish discoloration of the skin and mucous membranes due to poorly oxygenated blood in the circulation. Central cyanosis occurs when deoxygenated blood enters the systemic circulation due to a heart defect or lung disease. Common causes of cyanosis include congenital heart defects, lung diseases, methemoglobinemia, and anemia. The differential diagnosis and workup involves differentiating cardiac from pulmonary etiologies using physical exam findings, oxygen saturation testing, blood gases, imaging, and echocardiography. Emergency management of cyanotic spells focuses on increasing systemic vascular resistance through positioning, oxygen, fluids, morphine, phenylephrine, or beta blockers. Long
Persistent pulmonary hypertension of the newborn (PPHN) is a major problem in neonatal intensive care units that can lead to death or neurological injury in newborns. It occurs when the pulmonary circulation fails to transition from the high resistance fetal state. Causes include meconium aspiration syndrome, idiopathic PPHN, and pulmonary hypoplasia from conditions like congenital diaphragmatic hernia. Treatment involves optimizing oxygenation and cardiac function along with pulmonary vasodilators like inhaled nitric oxide. Future therapies may include phosphodiesterase inhibitors and prostacyclin analogs to further reduce pulmonary hypertension in newborns.
Approach to child with congenital heart diseaseAnkur Puri
This document provides guidance on evaluating a child with congenital heart disease. It outlines key questions to answer, including whether the condition is cyanotic or acyanotic. A thorough history is important, including prenatal, natal, and postnatal details. A physical exam involves assessing vital signs, growth, precordial examination, palpation of pulses and thrills, and auscultation of heart sounds and murmurs. The goal is to characterize the nature and severity of the congenital heart condition.
This document discusses cyanotic congenital heart disease (CCHD), which is defined as a cardiovascular birth defect that results in systemic arterial desaturation due to a right-to-left shunt. CCHDs can be classified based on pulmonary blood flow as having reduced, increased, or near normal flow. Common types of CCHDs with reduced pulmonary blood flow include tetralogy of Fallot and pulmonary atresia. CCHDs with increased pulmonary blood flow can present with features of congestive heart failure. The clinical approach to CCHDs involves delineating the anatomical and physiological abnormalities through assessment of anatomy, pulmonary circulation, systemic circulation, and ventricular function.
CONGENITAL HEART DISEASE: APPROACH TO DIAGNOSISNizam Uddin
This document discusses the diagnosis and classification of congenital heart disease. It begins by classifying CHDs into acyanotic or cyanotic types based on whether pulmonary blood flow is increased, normal, decreased, or increased. It emphasizes the importance of using a pulse oximeter to detect cyanosis, as the human eye cannot reliably detect low oxygen saturation above 85-93%. The document then discusses specific CHD types like atrial and ventricular septal defects, patent ductus arteriosus, tetralogy of Fallot, and transposition of the great arteries. It provides guidance on when surgical intervention is indicated for different CHDs. Overall, the document provides an overview of evaluating and classifying CHDs, with a focus on
Persistent pulmonary hypertension of newborn PPHNChandan Gowda
Persistent pulmonary hypertension of the newborn (PPHN) results from failure of the normal decrease in pulmonary vascular resistance after birth, causing right-to-left shunting of blood and hypoxemia. It can be caused by underdevelopment, maldevelopment, or maladaptation of the pulmonary vasculature. Clinical features include cyanosis and respiratory distress within the first 24 hours of life. Diagnosis involves echocardiography demonstrating elevated pulmonary pressures and responding poorly to oxygen challenges. Treatment aims to reduce PVR through ventilation strategies, medications, and potentially extracorporeal membrane oxygenation.
This document discusses approaches to diagnosing and treating hypertension in children. It defines hypertension and outlines stages of severity. In infants and young children, hypertension is usually secondary to an underlying condition, while adolescents can develop primary or essential hypertension. Evaluation involves measuring blood pressure properly, considering causes of secondary hypertension, assessing for target organ damage like left ventricular hypertrophy, and determining if hypertension is primary or secondary. Treatment involves lifestyle changes, weight management if overweight, and potentially medications to lower blood pressure below guidelines.
This document provides information on the approach and assessment of acyanotic congenital heart diseases in children. It discusses:
1. The typical presenting complaints which include feeding difficulties, respiratory distress, easy fatigability, recurrent infections, and failure to thrive.
2. The physical exam findings to assess including inspection, palpation of pulses, blood pressure, jugular venous pressure, auscultation of heart sounds and murmurs.
3. The classification of acyanotic heart diseases which include left-to-right shunts and outflow obstructions. The most common types are also listed.
The causes listed are all potential causes for syncope in children. The most common causes are neurocardiogenic syncope, breath-holding spells, and seizures. Other important considerations include cardiac causes like long QT syndrome, hypertrophic cardiomyopathy, and aortic stenosis.
cyanotic and acyanotic Congenital heart disease for undergraduated student uo...Azad Haleem
This document provides information on various types of congenital heart defects (CHDs), including descriptions, classifications, pathophysiology, clinical manifestations, investigations, and management. It discusses ventricular septal defects (VSDs), atrial septal defects (ASDs), patent ductus arteriosus (PDA), coarctation of the aorta, tetralogy of Fallot, and cyanosis. VSDs, ASDs, and PDA are examples of acyanotic left-to-right shunt lesions, while tetralogy of Fallot is a common cyanotic heart defect. Clinical features, imaging findings, and treatment approaches are described for each condition.
This document provides information on Ebstein's anomaly, including its anatomy, embryology, clinical presentation, diagnosis, and natural history. Some key points:
- Ebstein's anomaly is a congenital defect involving downward displacement of the tricuspid valve into the right ventricle. This can cause dilation of the right atrium and dysfunction of the right ventricle.
- Clinical presentation varies from neonatal congestive heart failure to later cyanosis, arrhythmias, and right heart failure in adults. Associated defects are common.
- Diagnosis is made through echocardiogram demonstrating displacement of the tricuspid valve leaflets. Other tests like ECG, chest x-ray, and
Pulmonary hypertension in infants and children can be neonatal, cardiac-related, acquired, or idiopathic. The gold standard test to confirm pulmonary hypertension is cardiac catheterization. Current pharmacologic treatments target three pathways - the endothelin pathway, nitric oxide pathway, and prostacyclin pathway. Combination drug therapy and non-pharmacologic options like atrial septostomy may also be used, but pulmonary hypertension remains a challenging condition to treat in children.
This document discusses pediatric cardiac arrhythmias. Some key points:
- Arrhythmias are classified based on site of origin such as the sinus node, atria, AV node or ventricles. Common arrhythmias include sinus tachycardia, supraventricular tachycardia, and ventricular tachycardia.
- Presentation of arrhythmias in children varies by age. Neonates may experience atrial flutter or ectopic atrial tachycardia. Older children may experience WPW syndrome or AV nodal re-entrant tachycardia.
- Diagnosis involves analyzing the ECG for heart rate, QRS width, and P wave relationship to the
Tetralogy of Fallot is the most common cyanotic heart disease characterized by four features: ventricular septal defect, overriding aorta, infundibular pulmonary stenosis, and right ventricular hypertrophy. It presents with cyanosis that is more frequent in the second half of the first year and hypercyanotic spells after exercise or positions like crying and squatting. Treatment involves palliative surgery like Blalock-Taussig shunt initially, followed by complete repair around 6 months of age. Management of hypercyanotic spells includes medications like morphine, oxygen, and positioning changes.
This document discusses supraventricular tachycardia (SVT) in pediatric patients. SVT is the most common abnormal heart rhythm seen in children and the most common arrhythmia requiring treatment. It is usually caused by re-entry mechanisms involving an accessory pathway or the atrioventricular node. Diagnosis involves obtaining an electrocardiogram during episodes to identify P wave patterns. Treatment options include vagal maneuvers, medications like adenosine, calcium channel blockers, or beta blockers, and cardioversion. Radiofrequency ablation can provide a cure for refractory or recurrent cases. Proper diagnosis of the underlying SVT mechanism guides selection of the most appropriate treatment approach.
This document discusses hyperkalemia, or high levels of potassium in the blood. It covers the normal physiology of potassium balance in the body, including intake through foods, absorption in the intestines, and excretion primarily through the kidneys under regulation of the hormone aldosterone. Causes of hyperkalemia include reduced kidney function, medications that interfere with potassium excretion, and conditions that cause a shift of potassium out of cells. The document provides details on evaluating, diagnosing, and classifying different severities of hyperkalemia based on serum potassium levels.
1. The document discusses the approach to diagnosing and managing patients with congenital cyanotic heart disease. Common cyanotic lesions include tetralogy of Fallot, transposition of the great arteries, and tricuspid atresia.
2. Physical examination focuses on signs of cyanosis, murmurs, organomegaly or congestive heart failure. Investigations include chest X-ray, ECG, echocardiogram and arterial blood gas. Management involves ruling out other causes, providing supplemental oxygen, addressing congestive heart failure, and definitive surgical repair if possible.
3. Case scenarios discuss specific patients with features of tetralogy of Fallot, transposition of the great arteries with ventricular sept
Congenital cyanotic heart disease approachVarsha Shah
This document discusses cyanotic congenital heart disease (CCHD). It notes that the incidence of moderate to severe CHD is 6-8 per 1,000 live births. The top five diagnoses presenting in the first week of life include transposition of the great arteries, hypoplastic left ventricle, tetralogy of Fallot, coarctation of the aorta, and ventricular septal defect. Clinical findings, ECG patterns, and prognosis after surgery are reviewed for various CCHDs, including tetralogy of Fallot, transposition of the great arteries, tricuspid atresia, Ebstein's anomaly, and hypoplastic left heart syndrome. Medical management including prostagland
Cyanotic heart defects allow unoxygenated blood to enter the systemic circulation, causing cyanosis (blue skin). Infants with defects dependent on a patent ductus arteriosus for blood flow can deteriorate quickly as the ductus closes, requiring medical intervention. Prostaglandin E1 preserves ductal patency and improves oxygen levels. Long-term management may involve surgical procedures like shunt placement or defect repair. Uncorrected defects can lead to complications such as polycythemia, anemia, clotting issues and hypercyanotic episodes.
I'm afraid I don't have enough information to answer these questions. The document provided is an overview of techniques for detecting intracardiac shunts and quantifying cardiac output and shunt flow. It does not include a specific patient case. Could you please provide more details about a patient for me to reference in answering your questions?
Single ventricle presentation for pediatricianLaxmi Ghimire
As the number of children who survive single ventricle physiology, it is very important for the pediatrician to understand about them to give them the best care.
The second heart sound occurs at the end of systole due to closure of the semilunar valves. There are normally two components: A2 from aortic valve closure and P2 from pulmonary valve closure. A2 is typically louder due to higher pressures in the aorta. The components are normally split, with A2 occurring earlier due to differences in vascular resistance and compliance between the pulmonary and systemic circulations. Widening of the split may indicate conduction delays or pulmonary hypertension. Reversed or paradoxical splitting can occur in conditions that delay left ventricular ejection such as left bundle branch block. Single second heart sounds may result from fusion of the components or absence of one.
Cyanosis is a bluish discoloration of the skin and mucous membranes caused by low oxygen levels. It can be due to pulmonary or cardiac issues. Pulmonary causes include problems leading to ventilation-perfusion mismatching or low oxygen exchange in the lungs. Cardiac causes are congenital heart defects causing right-to-left shunts, reducing oxygenated blood to the body. Diagnosis involves physical exam, blood tests, chest x-ray, and oxygen responsiveness testing to distinguish between cardiac and pulmonary etiologies. Initial management focuses on stabilization, monitoring, supportive care like oxygen, and treating any underlying issues like sepsis.
Hypoplastic left heart syndome - prof. Tomasz Moszurapiodof
This document summarizes interventions for patients with hypoplastic left heart syndrome (HLHS) at various stages of palliation. It describes 161 percutaneous interventions performed in 135 patients between 2001-2013. Interventions included balloon septostomy, stent placement, and angioplasty to treat complications prior to and after the 3 stages of surgical palliation for HLHS. Outcomes of interventions at different stages are presented, finding improvements in hemodynamics and oxygen saturation in most cases. Complications occurred in 4.3% of interventions.
Gout is a metabolic disease caused by high levels of uric acid in the bloodstream, which can accumulate and crystallize in the joints, causing inflammation. It occurs when there is either overproduction of uric acid by the body or inadequate excretion by the kidneys. Common symptoms include sudden, severe pain and swelling in joints like the big toe. Treatment focuses on reducing uric acid levels through medications and dietary changes like limiting purine-rich foods and alcohol.
Gout is a form of arthritis caused by urate crystals depositing in joints due to high uric acid levels. It exists in primary and secondary forms. Primary gout is caused by inborn errors in purine metabolism and usually affects older men. Secondary gout is caused by other conditions like renal insufficiency that decrease uric acid excretion. Gout progresses through asymptomatic, acute, and chronic stages and is characterized by painful joint inflammation and tophi formations. Treatment involves medications like allopurinol to reduce uric acid production as well as a low purine diet and increased fluid intake.
This document discusses various types of heart disease including hypertensive heart disease, cardiomyopathies, valvular heart disease, and infective endocarditis. It provides details on the criteria, morphology, causes, and clinical features of each condition. Specifically, it describes how hypertensive heart disease can cause left or right ventricular hypertrophy and heart failure. It also explains the differences between dilated, hypertrophic, and restrictive cardiomyopathies and their causes and features.
The document summarizes the case of a 28 day old neonate admitted to the NICU with respiratory failure and shock. Key details include:
- The infant was born at term and presented on day 10 of life with respiratory distress and poor feeding.
- Examination found differential blood pressures and features of congestive cardiac failure.
- Echocardiogram revealed coarctation of the aorta, which was confirmed as the diagnosis.
- Treatment included PGE1 infusion and the plan is for definitive surgical repair.
This document discusses coarctation of the aorta, including:
1. The definition and history of coarctation as a congenital narrowing of the upper descending thoracic aorta.
2. Theories on the pathogenesis of coarctation related to reduced blood flow through the left side of the heart or abnormal ductal tissue.
3. Types of coarctation including preductal and postductal, and surgical techniques for repair such as patch aortoplasty or bypass grafting.
4. Presentation varies from heart failure in neonates to hypertension in older children and adults, with complications including aneurysm and rupture.
1. Gout and pseudogout are types of crystal arthritis caused by sodium urate crystals or calcium pyrophosphate crystals respectively.
2. Gout prevalence is increasing, especially in developed countries, and affects men more than women. Risk factors include diet, medications, age, gender and medical conditions.
3. Pseudogout usually affects the knees and wrists of elderly women, causing painful flare ups that are treated similarly to gout.
Coarctation of the aorta is a congenital heart defect where there is a localized narrowing of the aorta. It occurs in 8-10% of congenital heart diseases and is more common in males. The pathology involves indentation of the anterior, lateral, and posterior walls of the aorta. It can be preductal or postductal. Clinical manifestations include weak pulses and decreased blood pressure in the lower extremities. Diagnosis is made through chest x-ray, echocardiogram, and ECG. Treatment involves controlling congestive heart failure in infancy, treating hypertension, and surgical resection of the coarctation.
This document summarizes the modern management of gout. It discusses the pathophysiology of gout involving urate crystals activating the inflammasome and promoting inflammation. It reviews risk factors such as hyperuricaemia, diet, obesity, and metabolic syndrome. Guidelines for treatment include lifestyle changes, acute flare treatment with NSAIDs or colchicine, and chronic management with urate-lowering therapy such as allopurinol or febuxostat to reduce serum urate levels. New discoveries in urate transporters and their role in hyperuricaemia are also discussed.
Cardiomyopathy (KAR-de-o-mi-OP-ah-thee) refers to diseases of the heart muscle. These diseases have many causes, signs and symptoms, and treatments.
In cardiomyopathy, the heart muscle becomes enlarged, thick, or rigid. In rare cases, the muscle tissue in the heart is replaced with scar tissue.
As cardiomyopathy worsens, the heart becomes weaker. It's less able to pump blood through the body and maintain a normal electrical rhythm. This can lead toheart failure or irregular heartbeats called arrhythmias (ah-RITH-me-ahs). In turn, heart failure can cause fluid to build up in the lungs, ankles, feet, legs, or abdomen.
The weakening of the heart also can cause other complications, such as heart valve problems.
OverviewThe main types of cardiomyopathy are:
Dilated cardiomyopathy
Hypertrophic (hi-per-TROF-ik) cardiomyopathy
Restrictive cardiomyopathy
Arrhythmogenic (ah-rith-mo-JEN-ik) right ventricular dysplasia
(dis-PLA-ze-ah)
Other types of cardiomyopathy sometimes are referred to as "unclassified cardiomyopathy."
Cardiomyopathy can be acquired or inherited. "Acquired" means you aren't born with the disease, but you develop it due to another disease, condition, or factor. "Inherited" means your parents passed the gene for the disease on to you. Many times, the cause of cardiomyopathy isn't known.
Cardiomyopathy can affect people of all ages. However, people in certain age groups are more likely to have certain types of cardiomyopathy. This article focuses on cardiomyopathy in adults.
OutlookSome people who have cardiomyopathy have no signs or symptoms and need no treatment. For other people, the disease develops quickly, symptoms are severe, and serious complications occur.
Treatments for cardiomyopathy include lifestyle changes, medicines, surgery, implanted devices to correct arrhythmias, and a nonsurgical procedure. These treatments can control symptoms, reduce complications, and stop the disease from getting worse.
National Heart Lung and Blood Institute
This document discusses coarctation of the aorta, including its embryology, nomenclature, pathophysiology, natural history, and clinical features. Some key points include:
- Coarctation of the aorta is a congenital narrowing of the aorta near the ductus arteriosus. Left untreated, 50% of patients will die within 10 years primarily due to heart failure.
- Associated anomalies include ventricular septal defects (40% of cases) and bicuspid aortic valves (46% of cases).
- Long-term complications include hypertension, aneurysm formation, dissection, and rupture.
- Natural history studies show mortality rates increase significantly from 25% at age
Hypertension, or high blood pressure, is a condition where systolic blood pressure is greater than or equal to 140 mm Hg or diastolic blood pressure is greater than or equal to 90 mm Hg. Hypertension usually develops gradually over many years and can damage target organs like the heart, brain, and kidneys if left untreated. Risk factors for hypertension include increasing age, family history, obesity, sedentary lifestyle, smoking, excessive alcohol consumption, and certain medical conditions like diabetes. Lifestyle changes such as losing weight, exercising regularly, reducing salt and alcohol intake, quitting smoking, and following medical treatment can help prevent and manage hypertension.
Coarctation of the aorta is a congenital narrowing of the aorta near the site where the ductus arteriosus attaches. It can range from a localized stenosis to tubular hypoplasia of the aorta. Left untreated, it causes increased blood pressure in the upper body and heart complications due to increased workload. Surgical repair techniques include subclavian flap aortoplasty, end-to-end anastomosis, and patch angioplasty. Postoperative risks include recoarctation, spinal cord injury, and persistent hypertension. Long term follow up is needed due to risks of aneurysm and cardiovascular complications.
Tetralogy of Fallot is a congenital heart defect with four abnormalities: 1) a ventricular septal defect, 2) pulmonary stenosis, 3) overriding aorta, and 4) right ventricular hypertrophy. This causes deoxygenated blood to bypass the lungs and mix with oxygenated blood, resulting in cyanosis. The severity depends on the degree of pulmonary stenosis and ventricular septal defect. Surgical repair involves relieving the stenosis and closing the VSD.
Seminar on critical Congenital heart disease Dr Habibur Rahim | Dr Faria YasminDr. Habibur Rahim
This document discusses the management of critical congenital heart disease in newborns. It describes how prostaglandin E1 (PGE1) is used to maintain ductal patency until definitive treatment. PGE1 is started as a continuous IV infusion at a low dose and titrated to safely establish an open ductus arteriosus. This improves oxygen saturation while definitive diagnosis and treatment are determined. Potential side effects include apnea, hypotension, and hyperthermia, requiring close monitoring during PGE1 infusion. PGE1 therapy is currently standard care for ductal-dependent congenital heart defects until palliative or corrective surgery can be performed.
Timing of Interventions in Acyanotic CHDRavi Kumar
This document discusses the timing of interventions for acyanotic heart disease in children. It covers several conditions including atrial septal defects, ventricular septal defects, patent ductus arteriosus, atrioventricular septal defects, coarctation of the aorta, aortic stenosis, and pulmonic stenosis. For each condition, it describes the typical presentation, diagnosis, natural history if left untreated, and recommendations for the ideal timing of intervention based on factors like the size of the defect, presence of heart failure or pulmonary hypertension, and age of the child. Interventions may include surgical repair, device closure, or balloon dilation depending on the specific condition and characteristics of each case. The goal is to provide evidence-based
Introductory lecture with overview of congenital heart diseases including fetal circulation and the changes that occur after birth.
Simple approach to CHD
This document provides an overview of congenital heart disease (CHD). It begins with objectives and an outline of the topics to be covered, including a case presentation of a 4 day old infant with a patent ductus arteriosus. Key points include: the causes of CHD can be genetic or environmental; CHD is classified into categories like septal defects, cyanotic defects, and obstructive defects; signs and symptoms vary depending on the specific defect but may include murmurs, breathing difficulties, and cyanosis; and management involves treatments like medication or surgery depending on the severity and type of defect.
This document provides an overview of congenital heart disease, including common lesions and their physiology. It discusses the fetal circulation and how defects are more tolerated in utero but often cause issues after birth as pulmonary vascular resistance decreases. Common left-to-right shunt lesions like atrial septal defects, ventricular septal defects, and patent ductus arteriosus are explained. Obstructive lesions such as coarctation of the aorta and pulmonary valve stenosis are also summarized. The document provides details on presentation, diagnosis, and treatment of these various congenital heart conditions.
Management of congenital heart disease in infantsSMSRAZA
- Congenital heart disease is the most common birth defect, affecting around 8 per 1000 births. Common defects include ventricular septal defects, atrial septal defects, and tetralogy of Fallot.
- Diagnosis involves a detailed family history, physical exam for murmurs or cyanosis, chest x-ray, electrocardiogram, and echocardiogram. Treatment depends on the specific defect but may include medications, closure devices, surgery, or lifestyle changes.
- Managing congenital heart disease requires a multidisciplinary approach including cardiologists, cardiac surgeons, nutritionists, and mental health professionals to address both physical and psychological needs.
Heart disease in children...B.Sc. Nursing & GNM syllabus Rahul Dhaker
The document discusses several types of congenital heart disease that can occur in children, including ventricular septal defects (VSD), patent ductus arteriosus (PDA), and atrial septal defects (ASD). VSD is a hole in the wall separating the ventricles. It is the most common congenital heart defect and can cause symptoms like fatigue. PDA is the persistent opening of the ductus arteriosus, which normally closes soon after birth. ASD is a hole in the atrial septum allowing blood to pass between the atria. Larger defects cause symptoms while smaller ones may have no symptoms. Surgical repair is often needed for larger defects.
Right use of Pulse Oximetry must be Used as a Screening Test for Early Detect...crimsonpublishersOJCHD
Preventive medicine is the ideal way in dealing with frequent and fatal diseases. Congenital heart disease (CHD) are responsible for the largest proportion of mortality caused by birth defects, in the first year of life. Actual numbers and mortality from CHD is increasing. In the developed world the treatment of CHD has escalating costs for health care systems and private covered patients, while in low-income countries the resources are minimal. Prevention/early detection, is urgently needed to tackle the increasing needs. Aim: To justify why pulse oximetry (pox) is the best available, early detecting postnatal screening test currently. Conclusion: Although CHD's are both frequent and carry a high morbidity and mortality, we still lack a single, easy to apply, non-invasive and low-cost screening test, worldwide. The most advantageous method for minimizing CHD deaths worldwide seems to be currently, the combination of clinical assessment with pox.
Right use of Pulse Oximetry must be Used as a Screening Test for Early Detect...crimsonpublishersOJCHD
Preventive medicine is the ideal way in dealing with frequent and fatal diseases. Congenital heart disease (CHD) are responsible for the largest proportion of mortality caused by birth defects, in the first year of life. Actual numbers and mortality from CHD is increasing. In the developed world the treatment of CHD has escalating costs for health care systems and private covered patients, while in low-income countries the resources are minimal. Prevention/early detection, is urgently needed to tackle the increasing needs. Aim: To justify why pulse oximetry (pox) is the best available, early detecting postnatal screening test currently. Conclusion: Although CHD's are both frequent and carry a high morbidity and mortality, we still lack a single, easy to apply, non-invasive and low-cost screening test, worldwide. The most advantageous method for minimizing CHD deaths worldwide seems to be currently, the combination of clinical assessment with pox.
Early detection of congenital heart disease, cardoalex 2019.pptxAliaa Shaban
This document discusses early detection of congenital heart diseases through prenatal screening and newborn screening. It notes that congenital heart diseases have an incidence of around 1% in live births and are a leading cause of infant mortality. Fetal anomaly screening using ultrasound can detect some major heart abnormalities but misses around 50% of cases. Adding outflow tract views improves detection rates. For suspected cases, a referral to a fetal cardiologist is recommended. Newborn pulse oximetry screening can detect critical cases that are not identified at birth, but it can miss some cases and produce false positives that require additional testing. Early diagnosis through screening and timely management is important for improving outcomes for infants with congenital heart diseases.
1. Stroke in children differs from adults, with congenital and developmental risk factors being more common than chronic risk factors. Presentation can also be more subtle.
2. Guidelines recommend brain imaging, preferably MRI, for any child presenting with clinical stroke symptoms. Further vascular imaging and cardiac echocardiography within 48 hours is also advised.
3. A thorough evaluation should include blood tests to check for coagulation disorders, inflammation, infection and other metabolic causes. Prothrombotic factor screening is important to identify inherited risks and guide family screening.
Congenital heart defects (CHDs) are structural abnormalities in the heart present at birth. Most CHDs disrupt normal blood flow through the heart by obstructing blood flow, allowing blood to flow in the wrong direction, or blocking blood flow completely. CHDs are among the most common birth defects and a leading cause of birth defect-related deaths. While most CHDs have no known cause, certain maternal illnesses, medications, genetic syndromes, and family history can increase the risk of a baby being born with a CHD. Diagnostic tests like echocardiograms, electrocardiograms, and cardiac catheterizations are used to evaluate CHDs.
Acyanotic heart defects are a class of congenital malformation of the heart. It provides knowledge in detail regarding acyanotic heart defects(VSD &ASD) for B.Sc(N) students.
This document discusses the impact of prenatal diagnosis on the pediatric management of heart defects. It outlines how advances in ultrasound technology over the past 50 years have enabled the detection of congenital heart defects in fetuses. Screening the fetal heart during routine obstetric ultrasounds can now detect over 60% of major heart defects. Prenatal diagnosis allows parents to terminate pregnancies affected by severe defects and improves outcomes for children who undergo surgery after birth by enabling planned deliveries at specialized cardiac centers.
1) Pediatric strokes can occur before birth, in the first 28 days of life, or from infancy to 18 years. The main types are arterial ischemic stroke, cerebral sinovenous thrombosis, and hemorrhagic stroke.
2) Risk factors include focal or transient cerebral arteriopathy, infection, heart conditions, blood problems, and vascular malformations.
3) Symptoms depend on age but can include seizures, weakness, speech problems, and headaches. Complications include paralysis and cognitive impairments.
This document discusses cardiovascular disease risk factors. It begins by introducing the topic and outlines the sections. The introduction notes that CVD is a leading cause of death worldwide. The epidemiology section describes the prevalence of CVD globally and in certain regions. The pathophysiology section explains the development of atherosclerosis. The traditional risk factors section lists established risks like hypertension, diabetes, and smoking. The document focuses on emerging risk factors, describing biomarkers like lipoprotein(a), apolipoprotein B, and homocysteine that can help identify risk beyond traditional factors. It discusses the evidence supporting these novel factors and their clinical implications.
The document discusses several types of pediatric heart disease. It describes congenital heart defects as the most common type, affecting about 8 in 1,000 births. Some specific congenital defects mentioned include heart valve disorders, holes in the heart walls, and tetralogy of Fallot. The document also discusses acquired conditions like atherosclerosis, arrhythmias, Kawasaki disease, heart murmurs, pericarditis, rheumatic heart disease, viral infections of the heart, cardiomyopathy, pulmonary hypertension, and myocarditis. It provides details on symptoms, causes, and treatments for each condition.
Similar to Critical congenital heart diseases (20)
Bipolar disorder, also known as manic-depressive illness, is characterized by periods of depression alternating with periods of mania or hypomania. During manic episodes, patients experience elevated mood, decreased need for sleep, grandiosity, and increased goal-directed activity. Depressive episodes involve depressed mood, loss of interest, changes in appetite and sleep, feelings of worthlessness, and thoughts of death or suicide. Treatment involves medication such as mood stabilizers, antipsychotics, and antidepressants as well as psychotherapy. The causes of bipolar disorder are thought to involve genetic, neurological, environmental, and psychosocial factors.
- There is an estimated 1 million people worldwide who have TB and HIV co-infection, with a high burden in sub-Saharan Africa and Asia.
- People living with HIV are 26-31 times more likely to develop TB than those without HIV. TB is the most common illness in those with HIV and a major cause of HIV-related death.
- Clinical manifestations of TB in those with HIV depend on immune deficiency level, ranging from typical localized TB to atypical disseminated forms with more advanced HIV disease. Diagnosis involves screening algorithms, radiography, sputum smear microscopy, mycobacterial culture, and molecular and serological tests.
Disseminated intravascular coagulation (DIC) is an acquired syndrome where there is widespread activation of the coagulation system, leading to microvascular thrombosis and organ damage. It can occur acutely when large amounts of procoagulants are suddenly released, or chronically with small continuous releases over time. Left untreated, it can cause life-threatening hemorrhage. Diagnosis involves looking for signs of bleeding and thrombosis, as well as using scoring systems to assess coagulation markers. Treatment focuses on treating the underlying condition while providing supportive care and replacing clotting factors.
The document discusses ruptured aneurysms of the aorta, specifically focusing on ruptured abdominal aortic aneurysms (RAAAs). It describes the typical presentation of RAAAs, which includes abdominal or back pain, hypotension, and the potential presence of a pulsatile abdominal mass. It notes that RAAAs have a high mortality rate if not treated emergently through open repair or potentially endovascular aneurysm repair (EVAR). Unusual presentations of RAAAs are also discussed, which can include symptoms like leg paralysis or groin/testicular pain that mimic other conditions and delay diagnosis.
Melanoma is a type of skin cancer that develops from pigment-producing cells known as melanocytes. It is caused by unrepaired DNA damage and mutations in these cells that lead to uncontrolled growth. While not the most common cancer, melanoma is particularly dangerous due to its ability to spread quickly if not detected early. Risk factors include excessive sun exposure, the presence of many moles or abnormal moles, fair skin, and family history. There are different types of melanoma that can vary in appearance, location, and growth patterns. Early detection of melanoma greatly increases survival rates.
The document discusses complications that can occur after total knee replacement surgery. Some specific complications mentioned include blood clots, infection, problems with the prosthetic implant like loosening or dislocation, complications from anesthesia like heart attack or stroke, injuries to nerves or blood vessels during surgery, and differences in leg length after surgery. Reducing risks requires preventative measures like blood thinners, support stockings, and antibiotics for future procedures to prevent infection.
An 81-year-old woman with a history of hypertension, diabetes, heart disease and abdominal pain was admitted to the hospital for worsening abdominal pain. Her ECG showed signs of a previous heart attack. Cardiac enzyme levels were elevated, leading to a diagnosis of a non-ST elevation myocardial infarction (NSTEMI). Angiography revealed blockages in her coronary arteries, which were treated with stent placement. NSTEMIs are less severe than ST elevation MIs and are usually caused by partial blockages that damage part of the heart muscle.
1) The document outlines key principles for newborn care at birth, including preparation, drying, assessment, classification, cleaning airways if needed, skin-to-skin contact, cord clamping, early breastfeeding, observation, and examination.
2) Procedures like drying, assessing heart rate and breathing, skin-to-skin contact, delayed cord clamping for 1 minute, and early breastfeeding should be performed immediately after birth.
3) Newborns are assessed using the APGAR score at 1 and 5 minutes after birth to evaluate breathing, heart rate, color, tone and reflexes to determine if resuscitation is needed.
This document provides information on dementia and various types of dementia such as Alzheimer's disease and vascular dementia. It discusses symptoms, brain changes, risk factors and diagnostic approaches for different dementias. Alzheimer's disease is the most common type of dementia, accounting for 60-80% of cases. Vascular dementia is the second most common, making up 20% of cases. Symptoms of Alzheimer's include memory loss and impaired judgment, while vascular dementia symptoms include impaired planning and reasoning abilities. Brain imaging can detect abnormalities associated with different dementias. A thorough diagnostic evaluation includes history, physical exam, neuropsychological testing, lab tests and brain imaging.
Lymphangioleiomyomatosis (LAM) is a rare lung disease that affects premenopausal women. It involves the proliferation of abnormal smooth muscle-like cells (LAM cells) in the lungs, lymphatic system, and kidneys. This leads to cyst formation in the lungs and lymphatic obstruction, causing symptoms like shortness of breath, pneumothorax, chylous ascites, and lymphangioleiomyomas. The disease has links to tuberous sclerosis complex and is exacerbated by estrogen. Diagnosis involves imaging and biopsy to identify LAM cells. Treatment focuses on managing symptoms, with lung transplantation as a last resort.
5-hydroxytryptamine or 5-HT or Serotonin is a neurotransmitter that serves a range of roles in the human body. It is sometimes referred to as the happy chemical since it promotes overall well-being and happiness.
It is mostly found in the brain, intestines, and blood platelets.
5-HT is utilised to transport messages between nerve cells, is known to be involved in smooth muscle contraction, and adds to overall well-being and pleasure, among other benefits. 5-HT regulates the body's sleep-wake cycles and internal clock by acting as a precursor to melatonin.
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Your smile is beautiful.
Let’s be honest. Maintaining that beautiful smile is not an easy task. It is more than brushing and flossing. Sometimes, you might encounter dental issues that need special dental care. These issues can range anywhere from misalignment of the jaw to pain in the root of teeth.
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The benefits of an ePCR solution should extend to the whole EMS organization, not just certain groups of people or certain departments. It should provide more than just a form for entering and a database for storing information. It should also include a workflow of how information is communicated, used and stored across the entire organization.
Test bank for karp s cell and molecular biology 9th edition by gerald karp.pdfrightmanforbloodline
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Test bank for karp s cell and molecular biology 9th edition by gerald karp.pdf
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The skin is the largest organ and its health plays a vital role among the other sense organs. The skin concerns like acne breakout, psoriasis, or anything similar along the lines, finding a qualified and experienced dermatologist becomes paramount.
Kosmoderma Academy, a leading institution in the field of dermatology and aesthetics, offers comprehensive courses in cosmetology and trichology. Our specialized courses on PRP (Hair), DR+Growth Factor, GFC, and Qr678 are designed to equip practitioners with advanced skills and knowledge to excel in hair restoration and growth treatments.
Cell Therapy Expansion and Challenges in Autoimmune DiseaseHealth Advances
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
In addition to infrastructure and capacity constraints, CAR-Ts face a very different risk-benefit dynamic in autoimmune compared to oncology, highlighting the need for tolerable therapies with low adverse event risk. CAR-NK and Treg-based therapies are also being developed in certain autoimmune disorders and may demonstrate favorable safety profiles. Several novel non-cell therapies such as bispecific antibodies, nanobodies, and RNAi drugs, may also offer future alternative competitive solutions with variable value propositions.
Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
2. CONTENTS:
OBJECTIVES
IMPORTANCE
STATISTICS OF CHD IN GENERAL
CCHD
SCREENING FOR CCHD
RISK FACTORS
MORE ABOUT:
•Hypoplastic left heart syndrome
•Pulmonary atresia with intact septum
•Tetralogy of Fallot
•Total anomalous pulmonary venous return
•d-Transposition of the great arteries
•Tricuspid atresia
•Truncus arteriosus
PROGNOSIS
REFERENCES
3. OBJECTIVES:
TO DISCUSS THE RELEVANE OF CCHD IN THE PRESENT.
TO DISCUSS THE IMPORTANCE OF SCREENING THE NEW-BORNS FOR CCHD.
TO UNDERSTAND THE EXISTING , KNOWN RISK FACTORS FOR CCHD.
TO PROVIDE GENERAL INFORMATION ABOUT CCHDs.
TO UNDERSTAND MORE ABOUT THE CCHDs CONSIDERED AS THE PRIMARY SCREENING
TARGETS.
4. IMPORTANCE
Heart defects are the most common type of birth defect, accounting for more than
30 percent of all infant deaths due to birth defects. CCHD represents some of the
most serious types of heart defects. About 7,200 new-borns, or 18 per 10,000, in
the United States are diagnosed with CCHD each year.
5. Congenital heart defects (CHDs) are the most common types of birth defects, and babies born
with these conditions are living longer and healthier lives.
Number of U.S. Babies Born with CHDs:
•CHDs affect nearly 1% of―or about 40,000―births per year in the United States.
•The prevalence (the number of babies born with heart defect compared to the total number of
births) of some CHDs, especially mild types, is increasing, while the prevalence of other types
has remained stable. The most common type of heart defect is a ventricular septal defect (VSD).
•About 25% of babies with a CHD have a critical CHD. Infants with critical CHDs generally need
surgery or other procedures in their first year of life.
STATISTICS:
6. Number of U.S. Children and Adults Living with CHDs:
One study estimated that, in 2010, about 2 million infants, children, adolescents, and adults were
living with CHDs in the United States. Researchers estimated that about 1 million U.S. children
and about 1 million U.S. adults were living with CHDs.
Overall, there are slightly more adults living with CHDs than children.
( To obtain this estimate, researchers used data from administrative healthcare databases in Canada
to estimate the prevalence of people living with CHDs and applied this to the U.S. Census data from
2010 )
7. CHD-Related Deaths
•CHDs are a leading cause of birth defect-associated infant illness and death.
•Infant deaths due to CHDs often occur when the baby is less than 28 days old (sometimes
called the neonatal period).
•In a study of neonatal deaths, 4.2% of all neonatal deaths were due to a CHD.
•During 1999–2006, there were 41,494 deaths related to CHDs in the United States.
This means that CHDs were either the main cause of death or contributed to death in some
way. During this time period, CHDs were listed as the main cause of death for 27,960 people.
Nearly half (48%) of the deaths due to CHDs occurred during infancy (younger than 1 year of
age).
8. SURVIVAL:
•Survival of infants with CHDs depends on how severe the defect is, when it is diagnosed, and how it is treated.
NON-CRITICAL CHD:
•About 97% of babies born with a non-critical CHD are expected to survive to one year of age.
•Thus, the population of people with CHDs is growing.
CRITICAL CHD:
•About 75% of babies born with a critical CHD are expected to survive to one year of age.
•Survival and medical care for babies with critical CHDs are improving.
•Between 1979 and 1993, about 67% of infants with critical CHDs survived to one year.
•Between 1994 and 2005, about 83% of infants with critical CHDs survived to one year.
9. Illness and Disability
•At least 15% of CHDs are associated with genetic conditions.
•About 20% to 30% of people with a CHD have other physical problems or developmental or cognitive
disorders.
•Children with CHD are about 50% more likely to receive special education services compared to
children without birth defects.
•The occurrence and severity of a developmental disability or delay increases with how complex the
heart defect is.
For example, more than 80% of individuals with a mild CHD have no developmental disabilities.
However, more than half of those with a more critical type of CHD have some form of disability or
impairment.
Guidelines for screening, diagnosing, and managing developmental disabilities or delay in children with
CHDs have recently been developed.
10. About 1 in every 4 babies born with a heart defect has a critical congenital heart defect (CCHD)
Typically, these types of heart defects lead to low levels of oxygen in a newborn and may be
identified using pulse oximetry screening at least 24 hours after birth.
Babies with a critical CHD need surgery or other procedures in the first year of life.
CRITICAL CONGENITAL HEART DISEASES
Some Specific Critical CHDs:
• Coarctation of the aorta
• Double-outlet right ventricle
• Ebstein’s anomaly
• Interrupted aortic arch
• Single ventricle
•Hypoplastic left heart syndrome
•Pulmonary atresia with intact septum
•Tetralogy of Fallot
•Total anomalous pulmonary venous return
•d-Transposition of the great arteries
•Tricuspid atresia
•Truncus arteriosus
11. Some CHDs may be diagnosed during pregnancy using foetal-echocardiogram.
However, some heart defects are not found during pregnancy. In these cases, heart defects may be
detected at birth or as the child ages.
Some babies born with a critical CHD appear healthy at first, and they may be sent home before their
heart defect is detected. These babies are at risk of having serious complications within the first few
days or weeks of life, and often require emergency care.
Newborn screening is a tool that can identify some of these babies so they can receive prompt care
and treatment.
Timely care may prevent disability or death early in life.
Importance of Newborn Screening for Critical CHDs
SCREENING
12. Timing of Critical CHD Screening:
Screening is done when a baby is at least 24 hours of age, or as late as possible if the baby is to be
discharged from the hospital before he or she is 24 hours of age.
How Newborn Screening for Critical CHDs is Done?
Newborn screening for critical CHDs involves pulse oximetry. Low levels of oxygen in the blood can be
a sign of a critical CHD.
Pulse oximetry screening does not replace a complete history and physical examination, which
sometimes can detect a critical CHD before oxygen levels in the blood become low.
Pulse oximetry screening, therefore, should be used along with the physical examination
13. Percentages refer to
oxygen saturation
as measured by
pulse oximeter.
Algorithm
showing the
steps in
screening.
14. Includes 7 primary targets and 5 secondary targets. Pulse oximetry screening is most likely to detect
the 7 primary screening targets, which almost always produce hypoxemia in the blood. The secondary
targets, which are less likely to produce hypoxemia, can be detected via pulse oximetry screening, but
not as consistently as the primary screening targets.
The targets for critical CHD screening:
Primary Screening Targets
•Hypoplastic left heart syndrome
•Pulmonary atresia with intact septum
•Tetralogy of Fallot
•Total anomalous pulmonary venous return
•d-Transposition of the great arteries
•Tricuspid atresia
•Truncus arteriosus
Secondary Screening Targets
•Coarctation of the aorta
•Double outlet right ventricle
•Ebstein anomaly
•Interrupted aortic arch
•Single ventricle
15. Failed Screens
A screen is considered failed if
1.Any oxygen saturation measure is <90% (in the initial screen or in repeat screens),
2.Oxygen saturation is <95% in the right hand and foot on three measures, each separated by one hour,
or
3.A >3% absolute difference exists in oxygen saturation between the right hand and foot on three
measures, each separated by one hour.
Any infant who fails the screen should have a diagnostic echocardiogram, which would involve either an
echocardiogram within the hospital or birthing center, transport to another institution for the procedure,
or use of telemedicine for remote evaluation. The infant’s paediatrician should be notified immediately
and the infant might need to be seen by a cardiologist.
16. Passed Screens
Any screening with an oxygen saturation measure that is ≥95% in the right hand or
foot with a ≤3% absolute difference between the right hand or foot is considered a
passed screen and screening would end. Pulse oximetry screening does not detect
all critical CHDs, so it is possible for a baby with a passing screening result to still
have a critical CHD or other CHD.
Ways to Reduce False Positive Screens:
•Screen the newborn while he or she is alert.
•Screen the newborn when he or she is at least 24 hours old.
17. RISK FACTORS:
In most cases, the cause of CCHD is unknown. A variety of genetic and environmental factors likely
contribute to this complex condition.
Changes in these genes are associated with critical congenital heart disease:
CFC1,FOXH1,GATA4,GATA6,GDF1,GJA1,HAND1,MED13L,NKX2-5,NKX2-6,NOTCH1,SMAD6,ZFPM2
The heart defects associated with CCHD can also occur as part of genetic syndromes that have additional
features.
Some of these genetic conditions, such as Down syndrome, Turner syndrome, and 22q11.2 deletion
syndrome, result from changes in the number or structure of particular chromosomes. Other conditions,
including Noonan syndrome and Alagille syndrome, result from mutations in single genes.
Environmental factors may also contribute to the development of CCHD. (No sufficient data to particularize)
Potential risk factors that have been studied include exposure to certain chemicals or drugs before birth, viral
infections (such as rubella and influenza) that occur during pregnancy, and other maternal illnesses including
diabetes and phenylketonuria.
Although researchers are examining risk factors that may be associated with this complex condition,
many of these factors remain unknown.
18. HYPOPLASTIC LEFT HEART SYNDROME
Hypoplastic left heart syndrome (HLHS) is a birth
defect that affects normal blood flow through the
heart. As the baby develops during pregnancy, the
left side of the heart does not form correctly.
Hypoplastic left heart syndrome affects a number of
structures on the left side of the heart that do not
fully develop, for example:
•The left ventricle is underdeveloped and too small.
•The mitral valves is not formed or is very small.
•The aortic valve is not formed or is very small.
•The ascending portion of the aorta is
underdeveloped or is too small.
•Often, babies with hypoplastic left heart syndrome
also have an atrial septal defect.
19. PATHOPHYSIOLOGY:
In babies with hypoplastic left heart syndrome, the left side of the heart cannot pump
oxygenated blood to the body properly. During the first few days of life for a baby with
hypoplastic left heart syndrome, the oxygenated blood bypasses the poorly
functioning left side of the heart through the patent ductus arteriosus and the patent
foramen ovale. The right side of the heart then pumps blood to both the lungs and the
rest of the body. However, among babies with hypoplastic left heart syndrome, when
these openings close, it becomes hard for oxygenated blood to get to the rest of the
body.
INCIDENCE:
The Centers for Disease Control and Prevention (CDC) estimates that each year about 960 babies in
the United States are born with hypoplastic left heart syndrome. In other words, about 1 out of every
4,344 babies born in the United States each year is born with hypoplastic left heart syndrome.
20. SIGNS & SYMPTOMS:
• Respiratory distress
• Shock or mild cyanosis
• A systolic ejection murmur may be heard at the ULSB due to increased flow through the pulmonary
valve.
• A holosystolic murmur due to Tricuspid Regurgitation may be heard.
• S2 is unusually loud and single.
• The peripheral pulses may be weak and the skin may be mottled due to poor tissue perfusion.
DIAGNOSIS:
•This condition can be diagnosed prenatally as early as 16 weeks gestation.
•EKG: there is absent Q wave in V6, poor progression of LV forces and RV myocardial ischemic ST-T
wave changes.
•Echocardiography is diagnostic and also helps to determine the size of the inter-atrial communication,
the patency of the ductus arteriosus, RV function and the presence of TR.
•CXR shows cardiomegaly, pulmonary venous congestion and pulmonary edema.
•Cardiac catheterization is rarely necessary for diagnosis but may urgently be needed to perform balloon
atrial septostomy if the ASD is restrictive.
21. TREATMENTS:
Medical management: PGE-1 should be started to maintain the ductal patency. Avoid oxygen
supplementation because this causes pulmonary vasodilatation and lowers the PVR, which makes
pulmonary congestion and CHF worse. Avoid excessive administration of IVF as most of the fluid
will to go to the lungs. Also avoid high doses of inotropic agents as these (a) cause systemic
vasoconstriction, (b) increase the SVR, which accentuates tissue hypo-perfusion and metabolic
acidosis; and (c) increase the myocardial oxygen demand.
Nutrition:
Some babies with hypoplastic left heart syndrome become tired while feeding and do not eat enough to gain
weight. To make sure babies have a healthy weight gain, a special high-calorie formula might be prescribed. Some
babies become extremely tired while feeding and might need to be fed through a feeding tube.
Surgery:
Soon after a baby with hypoplastic left heart syndrome is born, multiple surgeries done in a particular order are
needed to increase blood flow to the body and bypass the poorly functioning left side of the heart. The right
ventricle becomes the main pumping chamber to the body. These surgeries do not cure hypoplastic left heart
syndrome, but help restore heart function. Sometimes medicines are given to help treat symptoms of the defect
before or after surgery. Surgery for hypoplastic left heart syndrome usually is done in three separate stages:
1.Norwood Procedure, 2.Bi-directional Glenn Shunt Procedure, 3. Fontan Procedure.
23. PATHOPHYSIOLOGY:
In babies with pulmonary atresia, the pulmonary valve that usually controls the blood flowing through
the pulmonary artery is not formed, so blood is unable to get directly from the right ventricle to the lungs.
In pulmonary atresia, since blood cannot directly flow from the right ventricle of the heart out to the
pulmonary artery, blood must use other routes to bypass the unformed pulmonary valve. The foramen
ovale, that usually closes after the baby is born, often remains open to allow blood flow to the lungs.
Additionally, doctors may give medicine to the baby to keep the baby’s ductus arteriosus open after the
baby’s birth.
Pulmonary atresia is a birth defect of the pulmonary valve, which is the valve that controls blood flow
from the right ventricle to the main pulmonary artery. Pulmonary atresia is when this valve didn’t form at
all, and no blood can go from the right ventricle of the heart out to the lungs.
In babies with this defect, blood has trouble flowing to the lungs to pick up oxygen for the body.
24. Types of Pulmonary Atresia:
•Pulmonary atresia with an intact ventricular septum:
In this form of pulmonary atresia, the septum between the ventricles remains complete and
intact. During pregnancy when the heart is developing, very little blood flows into or out of the right
ventricle, and therefore the RV doesn’t fully develop and remains very small. If the RV is under-
developed, the heart can have problems pumping blood to the lungs and the body. The main pulmonary
artery (MPA), remains very small, since the pulmonary valve (PV) doesn’t form.
•Pulmonary atresia with a ventricular septal defect:
In this form of pulmonary atresia, a ventricular septal defect (VSD) allows blood to flow into and out of
the right ventricle (RV). Therefore, blood flowing into the RV can help the ventricle develop during
pregnancy, so it is typically not as small as in pulmonary atresia with an intact ventricular septum.
Pulmonary atresia with a VSD is similar to another condition called tetralogy of Fallot.
However, in tetralogy of Fallot, the pulmonary valve (PV) does form, although it is will have pulmonary
valve stenosis. Thus, pulmonary atresia with a VSD is like a very severe form of tetralogy of Fallot.
25. INCIDENCE:
In a 2012 study using data from birth defects tracking systems across the United States, researchers
estimated that about 1 out of every 10,000 babies is born with pulmonary atresia.
Signs and Symptoms
Babies born with pulmonary atresia will show symptoms at birth or very soon afterwards. They may
have a bluish looking skin color, called cyanosis, because their blood doesn’t carry enough oxygen.
Infants with pulmonary atresia can have additional symptoms such as:
•Problems breathing
•Ashen or bluish skin color
•Poor feeding
•Extreme sleepiness
•Patients are severely cyanotic and have respiratory distress. The S2 is single and a PDA murmur may
be heard
DIAGNOSIS:
EKG shows RAE, LVH and possibly RVH.
CXR shows the pulmonary vasculature is usually reduced.
26. Treatment
Most babies with pulmonary atresia will need medication to keep the ductus arteriosus open after birth.
Keeping this blood vessel open will help with blood flow to the lungs until the pulmonary valve can be
repaired.
Treatment for pulmonary atresia depends on its severity. In some cases, blood flow can be improved by
using cardiac catheterization, ballooning and stenting.
In most cases of pulmonary atresia, a baby may need surgery soon after birth. During surgery, doctors
widen or replace the pulmonary valve and enlarge the passage to the pulmonary artery.
If a baby has a VSD, the doctor also will place a patch over the VSD to close the hole between the two
lower chambers of the heart. These actions will improve blood flow to the lungs and the rest of the body.
If a baby with pulmonary atresia has an underdeveloped right ventricle, he or she might need staged
surgical procedures, similar to surgical repairs for HLHS.
27. TETRALOGY OF FALLOT
Tetralogy of Fallot is a birth defect that affects normal blood
flow through the heart. It happens when a baby’s heart
does not form correctly as the baby grows and develops in
the mother’s womb during pregnancy.
Tetralogy of Fallot is made up of the following four defects
of the heart and its blood vessels:
1.A hole in the wall between the two lower
chambers―or ventricles―of the heart. This condition also is
called a ventricular septal defect.
2.A narrowing of the pulmonary valve and main pulmonary
artery. This condition also is called pulmonary stenosis.
3.The aortic valves, which opens to the aorta, is enlarged
and seems to open from both ventricles, rather than from
the left ventricle only, as in a normal heart. In this defect,
the aortic valve sits directly on top of the ventricular septal
defect.
4.The muscular wall of the lower right chamber of the heart
(right ventricle) is thicker than normal. This also is
called ventricular hypertrophy.
28. SIGNS & SYMPTOMS:
This heart defect can cause oxygen in the blood that flows to the rest of the body to be reduced. Infants
with tetralogy of Fallot can have cyanosis. At birth, infants might not have cyanosis, but later might
develop sudden episodes of bluish skin during crying or feeding. These episodes are called tet spells.
Infants with tetralogy of Fallot or other conditions causing cyanosis can have problems including:
•A higher risk of getting an infection of the layers of the heart, called endocarditis.
•A higher risk of having irregular heart rhythms, called arrhythmia.
•Dizziness, fainting, or seizures, because of the low oxygen levels in their blood.
•Delayed growth and development.
There is a right ventricular tap at the left sternal border, systolic ejection murmur due to RVOTO, and
single S2. The VSD is usually unrestrictive and does not produce a heart murmur.
INCIDENCE & PREVALENCE:
The Centers for Disease Control and Prevention (CDC) estimates that each year about 1,660 babies in
the United States are born with tetralogy of Fallot. In other words, about 1 in every 2518 babies born in
the United States each year are born with tetralogy of Fallot.
29. TREATMENTS:
Tetralogy of Fallot can be treated by surgery soon after the baby is born.
During surgery, doctors widen or replace the pulmonary valve and enlarge the passage to the
pulmonary artery. They also will place a patch over the ventricular septal defect to close the hole
between the two lower chambers of the heart.
These actions will improve blood flow to the lungs and the rest of the body. Most infants will live
active, healthy lives after surgery.
Diagnosis
•EKG: Right Axis Deviation, Right Ventricular
Hypertrophy.
•CXR: 'Boot shaped' heart, due to concave main
pulmonary artery segment and upturned RV apex due
to RVH.
•Echocardiography: diagnostic. 25% of patients have
right aortic arch and 5% have coronary artery
anomalies.
30. TOTAL ANOMALOUS PULMONARY VENOUS RETURN
Total anomalous pulmonary venous return (TAPVR),
or connection (TAPVC) is a birth defect of the heart
in which the pulmonary veins don’t connect to the
left atrium like usual. Instead they go to the heart by
way of an abnormal (anomalous) connection.
In a related defect, partial anomalous pulmonary
venous return (PAPVR), not all of the veins have an
abnormal connection. There are some abnormal
connections, but one or more of the veins return
normally to the left atrium. Therefore, PAPVR is not
as critical as TAPVR.
31. PATHOPHYSIOLOGY:
In a baby with TAPVR, oxygenated blood does not return from the lungs to the left atrium.
Instead, the oxygenated blood returns to the right side of the heart. Here, oxygenated blood
mixes with de-oxygenated blood. This causes the baby to get less oxygen than is needed to the
body. To survive with this defect, babies with TAPVR usually have a hole between the right
atrium and the left atrium (an atrial septal defect) that allows the mixed blood to get to the left side
of the heart and pumped out to the rest of the body.
Some children can have other heart defects along with TAPVR, aside from the atrial septal
defect.
INCIDENCE:
CDC estimates that together, TAPVR and PAPVR occur in about one out of every 10,000 births.
32. Types of TAPVR:
There are different types of TAPVR, based on where the pulmonary veins connect:
•Supracardiac– In supracardiac TAPVR, the pulmonary veins come together and form an
abnormal connection above the heart to the superior venacava. In this type of TAPVR, a mixture of
Oxygenated & deoxygenated blood returns to the right atrium through the superior venacava.
•Cardiac – In cardiac TAPVR, the pulmonary veins meet behind the heart and connect to the right
atrium. The coronary sinus, helps connect the pulmonary veins to the right atrium in this type of
TAPVR.
•Infracardiac – In infracardiac TAPVR, the pulmonary veins come together and form abnormal
connections below the heart. A mixture of oxygenated & deoxygenated blood returns to the right
atrium from the veins of the liver and the inferior venacava.
33. SIGNS & SYMPTOMS:
Symptoms usually occur at birth or very soon afterwards. Infants with TAPVR can have cyanosis.
Infants with TAPVR can have symptoms such as:
•Problems breathing
•Pounding heart
•Weak pulse
•Ashen or bluish skin color
•Poor feeding
•Extreme sleepiness
We can often hear a heart murmur (caused by blood flowing through the atrial septal defect). However,
it is not uncommon for a heart murmur to be absent right at birth.
34. Treatment
Medical management may be tried in patients with TAPVC without obstruction, in the form of diuretics,
digoxin and correction of metabolic acidosis. PGE-1 causes pulmonary vasodilatation and may worsen
the CHF and should be avoided.
Babies with TAPVR will need surgery to repair the defect. The age at which the surgery is done
depends on how sick the child is and the specific structure of the abnormal connections between the
pulmonary veins and the right atrium.
The goal of the surgical repair of TAPVR is to restore normal blood flow through the heart. To repair
this defect, surgeons usually connect the pulmonary veins to the left atrium, close off any abnormal
connections between blood vessels, and close the atrial septal defect.
Diagnosis:
•CXR shows near normal sized
heart and pulmonary edema.
•Cardiomegaly with a
"snowman" sign in supra-
cardiac type.
35. d - TRANSPOSITION OF THE GREAT ARTERIES
Dextro-Transposition of the Great Arteries (d-TGA)
is a birth defect of the heart in which - the main
pulmonary artery and the aorta – are switched in
position, or “transposed.”
In transposition of the great arteries, the aorta is in
front of the pulmonary artery and is either primarily
to the right (dextro) or to the left (levo) of the
pulmonary artery. D-TGA is often simply called
“TGA.”
However, “TGA” is a broader term that includes both
dextro-TGA (d-TGA) and a rarer heart defect called
levo-TGA (l-TGA), or congenitally corrected TGA.
36. PATHOPHYSIOLOGY:
In babies with d-TGA, de-oxygenated blood from the body enters the right side of the heart. But, instead
of going to the lungs, the blood is pumped directly back out to the rest of the body through the aorta.
oxygenated blood from the lungs entering the heart is pumped straight back to the lungs through the
main pulmonary artery.
Often, babies with d-TGA have other heart defects, such as a ventricular septal defect or an atrial septal
defect that allow blood to mix so that some oxygenated blood can be pumped to the rest of the body.
The patent ductus arteriosus also allows some oxygenated blood to be pumped to the rest of the body.
INCIDENCE:
CDC estimates that about 1,250 babies are born with TGA each year in the United States. This means
that every 1 in 3,300 babies born in the US is affected by this defect.
37. SIGNS & SYMPTOMS:
Symptoms occur at birth or very soon afterwards. How severe the symptoms are will depend on whether
there is a way for blood to mix and for oxygenated blood to get out to the rest of the body.
For example, if an infant with d-TGA has another defect, like an ASD, the ASD forms a passageway for
some oxygenated blood to be pumped to the rest of the body. This infant with both d-TGA and an ASD
may not have as severe symptoms as infants whose hearts don’t have any mixing of blood.
The physical examination is usually benign except for severe cyanosis and a single loud S2 at
the upper left sternal border.
• Cyanosis
• Problems breathing
• Pounding heart
• Weak pulse
• Ashen or bluish skin color
• Poor feeding
Because the infant might be cyanotic and have trouble breathing, d-TGA is usually diagnosed within the
first week of life.
38. Treatments:
Medical management includes starting PGE-1 to keep the ductus open and treatment of
metabolic acidosis if present.
Surgery is required for all babies born with d-TGA. Other procedures may be done before surgery in
order to maintain, enlarge or create openings that will allow oxygenated blood to get out to the body.
There are two types of surgery to repair d-TGA:
Arterial Switch Operation
Atrial Switch Operation
After surgery, medications may be needed to help the heart pump better, control blood pressure, help
get rid of extra fluid in the body, and slow down the heart if it is beating too fast. If the heart is beating
too slowly, a pacemaker can be used.
Making the Diagnosis
•EKG usually shows right axis deviation and right ventricular hypertrophy (RVH).
•CXR may have the characteristic egg-shaped appearance (the great arteries are anterior posterior in
relationship and the thymus is usually small).
•Echocardiogram is diagnostic of dTGA. Echo is also important for identifying sites of communications
between the two circulations and in delineating the coronary artery anatomy which is important in surgical
repair.
•Cardiac catheterization may be needed to perform atrial septostomy; this allows mixing at the atrial level.
39. TRICUSPID ATRESIA
Tricuspid atresia is a birth defect of the tricuspid valve.
Tricuspid atresia occurs when this valve doesn’t form at
all, and no blood can go from the right atrium through the
right ventricle to the lungs for oxygen.
PATHOPHYSIOLOGY:
In babies with tricuspid atresia, the tricuspid valve that
controls blood flow from the right atrium to the right
ventricle is not formed, so blood is unable to get to the
right ventricle and out to the lungs. For this reason, the
right ventricle can be underdeveloped. The main
pulmonary artery may also be small with very little blood
going through it to the lungs.
40. In tricuspid atresia, since blood cannot directly flow from the right atrium to the right ventricle, blood must
use other routes to bypass the unformed tricuspid valve. Babies born with tricuspid atresia often also
have an atrial septal defect or a ventricular septal defect. These defects allow oxygenated blood to mix
with de-oxygenated blood, so that oxygenated blood has a way to get pumped to the rest of the body.
Additionally, doctors may give the baby medicine to keep the baby’s patent ductus arteriosus open, after
the baby’s birth. Keeping this connection open allows blood to get to the lungs for oxygen and bypass
the small right side of the heart.
Some babies with tricuspid atresia can also have other heart defects, including TGA. When a baby has
both tricuspid atresia and TGA, blood is able to get to the lungs because the main pulmonary artery
arises from the developed left ventricle.
However, blood cannot get out to the body because the aorta arises from the poorly formed right
ventricle and is small.
41. Signs and Symptoms:
Babies born with tricuspid atresia will show symptoms at birth or very soon afterwards. They may have
cyanosis. Infants with tricuspid atresia can have additional symptoms such as:
•Problems breathing
•Ashen or bluish skin color
•Poor feeding
•Extreme sleepiness
•Have a single S2 and a holosystolic murmur of VSD, and may have a PDA murmur.
DIAGNOSIS:
EKG classically shows a left superior axis deviation and diminished RV forces. LVH may be present.
Echo is diagnostic.
INCIDENCE:
In a 2012 study using data from birth defects surveillance systems across the United States, researchers
estimated that about 1 out of every 10,000 babies is born with tricuspid atresia
42. Treatment
Medicines:
Some babies and children will need medicines to help strengthen the heart muscle, lower their blood pressure, and
help the body get rid of extra fluid.
Management includes IV infusion of PGE-1 to maintain the ductal patency and to treat CHF.
Nutrition:
Some babies with tricuspid atresia become tired while feeding and do not eat enough to gain weight. To make sure
babies have a healthy weight gain, a special high-calorie formula might be prescribed. Some babies become extremely
tired while feeding and might need to be fed through a feeding tube.
Surgery:
Surgical treatment for tricuspid atresia depends on its severity and presence of other heart defects. Soon after a baby
with tricuspid atresia is born, one or more surgeries may be needed to increase blood flow to the lungs and bypass the
poorly functioning right side of the heart. Other surgeries or procedures may be needed later. Surgery do not cure
tricuspid atresia, but they help restore heart function. Sometimes medicines are given to help treat symptoms of the
defect before or after surgery.
Septostomy
Banding
Shunt Procedure
Bi-directional Glenn Procedure
Fontan Procedure
43. TRUNCUS ARTERIOSUS
Truncus arteriosus, also known as common truncus,
is a rare defect of the heart in which a single
common blood vessel comes out of the heart,
instead of the usual two vessels (the main
pulmonary artery and aorta).
It occurs when the blood vessel coming out of the
heart in the developing baby fails to separate
completely during development, leaving a
connection between the aorta and pulmonary artery.
There are several different types of truncus,
depending on how the arteries remain connected.
There is also usually ventricular septal defect
present here.
44. PATHOPHYSIOLOGY
In babies with a truncus arteriosus, de-oxygenated blood and oxygenated blood are mixed together as
blood flows to the lungs and the rest of the body. As a result, too much blood goes to the lungs and the
heart works harder to pump blood to the rest of the body.
Also, instead of having both an aortic valve and a pulmonary valve, babies with truncus arteriosus have
a single common valve (truncal valve) controlling blood flow out of the heart. The truncal valve is often
abnormal.
The valve can be thickened and narrowed, which can block the blood as it leaves the heart. It can also
leak, causing blood that leaves the heart to leak back into the heart across the valve.
INCIDENCE:
Truncus arteriosus occurs in less than one out of every 10,000 live births. It can occur by itself or as part
of certain genetic disorders. There are about 300 cases of truncus arteriosus per year in the United
States.
45. SIGNS & SYMPTOMS:
• Mild cyanosis
• wide pulse pressure and cardiomegaly
• A single S2, ejection systolic murmur (due to increased flow through the truncal valve)
• sometimes an apical diastolic murmur (due to increased flow through the mitral valve)
• An early diastolic murmur (may indicate truncal valve insufficiency)
Diagnosis:
•EKG may show biventricular hypertrophy.
•CXR show increased pulmonary vascular markings and prominent ascending aorta and may be
suggestive of right aortic arch (25% of cases).
•Echo is diagnostic and also shows associated cardiac anomalies.
46. Treatment
Surgery is needed to repair the heart and blood vessels. This is usually done in the first few months of
life. Options for repair depend on how sick the child is and the specific structure of the defect. The goal
of the surgery to repair truncus arteriosus is to create a separate flow of de-oxygenated blood to the
lungs and oxygenated blood to the body.
Some babies with truncus arteriosus also will need medicines to help strengthen the heart muscle, lower
their blood pressure, and help their body get rid of extra fluid.
Some babies with truncus arteriosus might become tired while feeding and might not eat enough to gain
weight. To make sure babies have a healthy weight gain, a special high-calorie formula might be
prescribed. Some babies become extremely tired while feeding and might need to be fed through a
feeding tube.
Most babies with truncus arteriosus survive the surgical repair, but may need more surgery or other
procedures as they get older. For example, the artificial tube doesn’t grow, so it will need to be replaced
as the child grows. There also may be blockages to blood flow which may need to be relieved, or
problems with the truncal valve.
47. PROGNOSIS:
Infants who have these surgeries are not cured; they may have lifelong
complications.
Infants with hypoplastic left heart syndrome will need regular follow-up visits with a
cardiologist to monitor their progress. If the defect is very complex, or the heart
becomes weak after the surgeries, a heart transplant may be needed.
Infants who receive a heart transplant will need to take medicines for the rest of their
lives to prevent their body from rejecting the new heart.
Changes in single genes have been associated with CCHD. Studies suggest that these genes are involved in normal heart development before birth. Most of the identified mutations reduce the amount or function of the protein that is produced from a specific gene, which likely impairs the normal formation of structures in the heart.
Studies have also suggested that having more or fewer copies of particular genes compared with other people, a phenomenon known as copy number variation, may play a role in CCHD. However, it is unclear whether genes affected by copy number variation are involved in heart development and how having missing or extra copies of those genes could lead to heart defects. Researchers believe that single-gene mutations and copy number variation account for a relatively small percentage of all CCHD.
CCHD is usually isolated, which means it occurs alone (without signs and symptoms affecting other parts of the body).
In a baby without a congenital heart defect, the right side of the heart pumps de-oxygenated blood from the heart to the lungs. The left side of the heart pumps oxygenated blood to the rest of the body. When a baby is growing in a mother’s womb during pregnancy, there are two small openings between the left and right sides of the heart: the patent ductus arteriosus and the patent foramen ovale. Normally, these openings will close a few days after birth.
Norwood ProcedureThis surgery usually is done within the first 2 weeks of a baby’s life. Surgeons create a “new” aorta and connect it to the right ventricle. They also place a tube from either the aorta or the right ventricle to the vessels supplying the lungs (pulmonary arteries). Thus, the right ventricle can pump blood to both the lungs and the rest of the body. This can be a very challenging surgery. After this procedure, an infant’s skin still might look bluish because oxygenated and de-oxygenated blood still mix in the heart.
Bi-directional Glenn Shunt ProcedureThis usually is performed when an infant is 4 to 6 months of age. This procedure creates a direct connection between the pulmonary artery and the vessel (the superior vena cava) returning de-oxygenated blood from the upper part of the body to the heart. This reduces the work the right ventricle has to do by allowing blood returning from the body to flow directly to the lungs.
Fontan ProcedureThis procedure usually is done sometime during the period when an infant is 18 months to 3 years of age. Doctors connect the pulmonary artery and the vessel (the inferior vena cava) returning de-oxygenated blood from the lower part of the body to the heart, allowing the rest of the blood coming back from the body to go to the lungs. Once this procedure is complete, oxygenated and de-oxygenated blood no longer mix in the heart and an infant’s skin will no longer look bluish.
Arterial Switch Operation: This is the most common procedure and it is usually done in the first month of life. It restores usual blood flow through the heart and out to the rest of the body. During this surgery, the arteries are switched to their usual positions—the pulmonary artery arising from the right ventricle and the aorta from the left ventricle. The coronary arteries (small arteries that provide blood to the heart muscle) also must be moved and reattached to the aorta.
Atrial Switch Operation: This procedure is less commonly performed. During this surgery, the arteries are left in place, but a tunnel (baffle) is created between the top chambers (atria) of the heart. This tunnel allows de-oxygenated blood to move from the right atrium to the left ventricle and out the pulmonary artery to the lungs. Returning oxygenated blood moves through the tunnel from the left atrium to the right ventricle and out the aorta to the body. Although this repair helps blood to go to the lungs and then out to the body, it also makes extra work for the right ventricle to pump blood to the entire body. Therefore, this repair can lead to difficulties later in life.
Surgical treatment for tricuspid atresia depends on its severity and presence of other heart defects. Soon after a baby with tricuspid atresia is born, one or more surgeries may be needed to increase blood flow to the lungs and bypass the poorly functioning right side of the heart. Other surgeries or procedures may be needed later. These surgeries, described below, do not cure tricuspid atresia, but they help restore heart function. Sometimes medicines are given to help treat symptoms of the defect before or after surgery.
Septostomy
This procedure may be done within the first few days or weeks of a baby’s life, and creates or enlarges the atrial septal defect, the hole between the right and left upper chambers (atria). This is done so that more de-oxygenated blood can mix with oxygenated blood, so that more oxygenated blood can get to the body.
Banding
If the baby has other heart defects along with tricuspid atresia, sometimes there is too much blood flowing to the lungs and not enough going out to the rest of the body. Too much blood in the lungs can damage them. If this is the problem, surgery may be done within the first few weeks of a baby’s life to place a band around the artery going to the lungs (main pulmonary artery) to control the blood flow to the lungs. This banding is a temporary procedure and will likely be removed.
Shunt Procedure
This surgery usually is done within the first 2 weeks of a baby’s life. Surgeons create a bypass (shunt) from the aorta to the main pulmonary artery, allowing blood to get to the lungs. If the aorta is small, as occurs when the baby also has transposition of the great arteries, the surgeon will also enlarge the aorta at this time. After this procedure, an infant’s skin still might look bluish because oxygenated and de-oxygenated blood still mix in the heart.
Bi-directional Glenn Procedure
This usually is performed when an infant is 4 to 6 months of age. This procedure creates a direct connection between the main pulmonary artery and the superior vena cava, the vessel returning de-oxygenated blood from the upper part of the body to the heart. This allows blood returning from the body to flow directly to the lungs and bypass the heart.
Fontan Procedure
This procedure usually is done sometime around 2 years of age. Doctors connect the main pulmonary artery and the inferior vena cava, the vessel returning de-oxygenated blood from the lower part of the body to the heart, allowing the rest of the blood coming back from the body to go to the lungs. Once this procedure is complete, oxygenated and de-oxygenated blood no longer mix in the heart and an infant’s skin will no longer look bluish.
Usually, surgery to repair this defect involves the following steps:
Close the hole between the bottom chambers of the heart (ventricular septal defect) usually with a patch.
Use the original single blood vessel to create a new aorta to carry oxygenated blood from the left ventricle out to the body.
Use an artificial tube (conduit) with an artificial valve to connect the right ventricle to the arteries going to the lungs in order to carry de-oxygenated blood to the lungs.