Etiology of congenital heart disease
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Congenital heart defects affect about 8 in 1000 live births and are one of the most common birth anomalies in humans. They can be caused by genetic factors like autosomal dominant or recessive syndromes, chromosome abnormalities in 5-8% of cases, or environmental factors like viruses or teratogens in 2-3% of cases. The majority, around 76-82%, are thought to have a multifactorial or polygenic inheritance. Common congenital heart defects include ventricular septal defects, atrial septal defects, tetralogy of Fallot, and patent ductus arteriosus.
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Cardiovascular Embryology and Congenital abnormalities
1. Embryology of the heart involves formation of the heart tube from mesoderm layers, cardiac looping and septation to form the four chambers.
2. Congenital heart defects can occur during development and include ventricular septal defects, atrial septal defects, atrioventricular septal defects, patent ductus arteriosus, coarctation of the aorta, bicuspid valves, and tetralogy of Fallot.
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Development of heart
The development of the heart occurs in several key stages:
1. Angiogenic cell clusters form in the lateral plate mesoderm and proliferate to form the initial heart tube structure.
2. The heart tube fuses into a single tube and develops an inner endocardial layer and outer myocardial layer.
3. The heart tube loops from right to left, forming the basic four-chamber structure of the heart. Local expansions form the atria, ventricles, and outflow tracts.
4. Partitioning occurs - endocardial cushions form and divide the atria and ventricles, while ridges partition the outflow tracts into the aorta and pulmonary trunk. This
Anomalies of heart
Congenital heart defects are abnormalities in the structure of the heart that are present at birth. They affect approximately 9 in 1000 births and can cause obstructed or abnormal blood flow. Common types include septal defects, where the walls separating the left and right sides of the heart have holes, and obstructive defects, where arteries or valves are blocked. Congenital heart defects range from mild to complex and may require medication, surgery, or both for treatment depending on severity. Their causes are usually a combination of genetic and environmental factors.
Embryology of the heart
The development of the heart begins with the formation of blood islands and a cardiogenic area in the mesoderm of the early embryo. The heart tube forms from the cardiogenic area and bends into a U-shape. The primitive chambers of the heart including the atrium, ventricle, and arterial end develop within the heart tube. Partitioning forms the septa that divide the heart into four chambers. Defects in septal development can result in congenital heart diseases.
DIURETICS Part II - What Do They Do
Diuretics work by inhibiting sodium reabsorption in the kidneys, which leads to increased sodium and water excretion and a reduction in blood pressure and edema. The main classes of diuretics are loop diuretics, thiazide diuretics, potassium-sparing diuretics, and mineralocorticoid receptor antagonists. While diuretics are effective for treating issues like hypertension, heart failure, and liver cirrhosis, they can cause adverse effects such as hypokalemia, hypomagnesemia, and metabolic alterations if not carefully monitored.
Diuretics
This document discusses different classes of diuretic drugs, including their mechanisms of action, structures, and uses. It focuses on loop diuretics, describing how they work by inhibiting sodium reabsorption in the ascending limb of the loop of Henle. Adverse effects of loop diuretics include electrolyte abnormalities like hypokalemia. The structure-activity relationships of loop diuretics are also covered, noting features like the carbonyl group and sulfamoyl substituents that contribute to diuretic potency. Loop diuretics are used to treat various conditions involving edema.
hydrocephalus
Hydrocephalus is a condition where there is excess cerebrospinal fluid (CSF) in the brain. It occurs when there is an imbalance between the production and absorption of CSF, disrupting normal fluid flow. Symptoms vary depending on age but include headaches, nausea, vision problems, and developmental delays. Hydrocephalus is diagnosed using imaging tests like CT or MRI scans. Treatment involves surgically inserting a shunt to drain CSF from the brain to the abdomen where it can be absorbed. With proper treatment and management, hydrocephalus patients can often live normal lives.
Cardioversión (2)
El documento describe el procedimiento de cardioversión eléctrica. La cardioversión eléctrica consiste en la administración de un choque eléctrico sincronizado con la onda R del ECG para revertir una arritmia cardiaca y restaurar el ritmo sinusal. Se detallan las indicaciones, contraindicaciones, equipos necesarios y los pasos del procedimiento, que incluyen la preparación del paciente, colocación de electrodos, selección de energía en el desfibrilador y administración del choque eléctrico.
NurseReview.Org - Diuretics Updates (pharmacology worksheets)
Diuretic agents work by increasing urine output and sodium excretion. There are several classes of diuretics including carbonic anhydrase inhibitors, loop diuretics, osmotic diuretics, potassium-sparing diuretics, and thiazide diuretics. Nursing care involves monitoring for therapeutic and adverse effects such as hypokalemia, hypotension, and fluid imbalance.
Cardioversión
La cardioversión puede ser eléctrica o farmacológica. La cardioversión eléctrica implica la aplicación de una descarga eléctrica sincronizada con la onda R para restaurar el ritmo sinusal, mientras que la farmacológica utiliza medicamentos. Algunos fármacos efectivos para la cardioversión farmacológica incluyen amiodarona, dofetilide, flecainida e ibutilide. La cardioversión requiere ciertos preparativos y el procedimiento debe realizarse de manera segura.
Diuretics
Diuretics
Pharmacology
Katzung
Abnormalities in fluid volume and electrolyte composition are common and important clinical disorders. Drugs that block specific transport functions of the renal tubules are valuable clinical tools in the treatment of these disorders. Although various agents that increase urine volume (diuretics) have been described since antiquity, it was not until 1937 that carbonic anhydrase inhibitors were first described and not until 1957 that a much more useful and powerful diuretic agent (chlorothiazide) became available. Technically, a “diuretic” is an agent that increases urine volume, whereas a “natriuretic” causes an increase in renal sodium excretion and an “aquaretic” increases excretion of solute-free water. Because natriuretics almost always also increase water excretion, they are usually called diuretics. Osmotic diuretics and antidiuretic hormone antagonists (see Agents That Alter Water Excretion) are aquaretics that are not directly natriuretic.
Hydrocephalus and Shunts: Sean's Story
Information from Kelley Whisler: Sean is my nephew, he and his twin sister Kaitlyn were born 10 weeks premature. He has Cerebral Palsy due to brain trauma at birth (like having a stroke on both sides of his brain) and acidosis due to his heart not converting to self-sufficiency at birth (PDA non-closure / therefore not enough oxygen in blood to brain/body). He also has some vision disability, due to ROP (retinopathy of prematurity - retina did not fully develop) as well as the stroke affected the vision area of his brain, which makes it hard for him to process what he does see. My sister made this powerpoint for me to share with my students as they have taken both Sean & Kaitlyn into their hearts, and they have wanted to know and understand what was happening with them.
Cardioversion
This document discusses cardioversion, which is a medical procedure used to restore a normal heart rhythm. It defines cardioversion and describes the different types (electrical and chemical). It outlines recommendations for pharmacological and electrical cardioversion of atrial fibrillation, including appropriate medications, energy requirements, and anticoagulation strategies before and after the procedure. The document provides details on preparing for and performing a cardioversion, and discusses differences between cardioversion and defibrillation.
Embryology of heart
The heart develops from mesodermal cardiogenic fields on either side of the embryo that fuse to form a primitive heart tube. This tube undergoes looping to the right, forming the chambers. Partitioning forms the atrial and ventricular septa, separating the chambers. In fetal circulation, blood is shunted away from the lungs through openings like the foramen ovale and ductus arteriosus. At birth, these close as the lungs become functional and circulation assumes the postnatal pattern. Defects can occur if septation or closure of passages is incomplete, leading to congenital heart diseases.
Austin Journal of Clinical Cardiology
Austin Journal of Clinical Cardiology is an open access, peer reviewed, scholarly journal dedicated to publish articles in all areas of cardiology and angiology. The aim of the journal is to provide a forum for cardiologists, researchers, physicians, and other health professionals to find most recent advances in the areas of cardiology and cardiovascular diseases.
Austin Journal of Clinical Cardiology accepts original research articles, review articles, case reports, clinical images and rapid communication on all the aspects of cardiology and circulatory system.
Austin Journal of Clinical Cardiology strongly supports the scientific upgradation and fortification in related scientific research community by enhancing access to peer reviewed scientific literary works. Austin Publishing Group also brings universally peer reviewed journals under one roof thereby promoting knowledge sharing, mutual promotion of multidisciplinary science.
Austin Journal of Clinical Cardiology is an open access, peer reviewed, scholarly journal dedicated to publish articles in all areas of cardiology and angiology
Approach to congenital cyanotic heart diseases
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
Development of the heart
The document summarizes the development of the heart from its initial formation as a heart tube through the development of its chambers, valves, and conducting system. Key stages include the fusion of the bilateral heart tubes, formation of the atria, bulbus cordis and ventricles, separation of the aorta and pulmonary trunk, development of the valves and septa that divide the chambers, and incorporation of veins and changes to the exterior shape. Potential congenital anomalies are also briefly outlined.
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NurseReview.Org - Diuretics Updates (pharmacology worksheets)
NurseReview.Org - Diuretics Updates (pharmacology worksheets)
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congenital-diseases.pptx
This document discusses congenital heart diseases, including:
- Congenital heart disease occurs in 0.5-0.8% of live births and is more common in stillborns, abortuses, and premature infants. Diagnosis is usually made within the first month of life.
- The most common congenital heart lesions are ventricular septal defects, atrial septal defects, patent ductus arteriosus, coarctation of the aorta, and tetralogy of Fallot.
- While most congenital defects are tolerated in utero due to the fetal circulatory system, after birth when these pathways close the full impact of defects becomes apparent.
- Congenital heart diseases can be
General Medicine for the Optometrist (3)
Genetic disorders are not rare and can be classified as cytogenetic, Mendelian, or multifactorial. Cytogenetic disorders involve changes in chromosome number or structure and examples include Down syndrome, Edwards syndrome, and Patau syndrome. Mendelian disorders can be autosomal dominant, autosomal recessive, or X-linked and examples are neurofibromatosis, cystic fibrosis, and retinitis pigmentosa. Multifactorial disorders are influenced by multiple genetic and environmental factors.
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Congenital heart diseases 1
This document discusses congenital heart diseases (CHD), which are the most common type of heart disease in children. CHD can be caused by genetic factors like chromosomal abnormalities or environmental factors like infections during pregnancy. They are classified as defects causing left-to-right shunts, right-to-left shunts, or obstructions. Common examples of each type are described along with their typical presentations, morphologies, and clinical outcomes. Surgical correction or intervention is often needed for severe defects.
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Arrhythmogenic right ventricular 2003
The document summarizes arrhythmogenic right ventricular dysplasia (ARVD), a condition where the right ventricle of the heart is replaced by fat and fibrous tissue. It affects mostly young males and can cause sudden cardiac death. Genetic factors are involved in many cases. The condition starts with fatty infiltration of the right ventricle and progresses to include fibrosis, thinning of the ventricular wall, and later involvement of the left ventricle. Diagnosis involves criteria related to structural changes, electrocardiogram abnormalities, arrhythmias, and family history.
Avaliação e tto de sc em criança
Heart murmurs are common in children but may indicate structural heart disease. A thorough history and physical exam is necessary to evaluate murmurs. Historical elements that increase likelihood of pathology include family history of sudden cardiac death or congenital heart disease, prenatal exposures, and certain genetic disorders. The physical exam should assess vital signs, exercise capacity, signs of heart failure, and characterize the murmur. Red flags include holosystolic, loud (> grade 3), harsh murmurs or those with maximal intensity standing or at the upper left sternal border. Echocardiography is recommended for potentially pathologic murmurs or neonatal murmurs to definitively diagnose any structural heart disease.
Revisão has 2011
Heart murmurs are common in children but may indicate structural heart disease. A thorough history and physical exam is necessary to evaluate murmurs. Historical elements suggesting pathology include family history of heart conditions, genetic disorders, or prenatal exposures. The exam should assess vital signs, exercise capacity, signs of heart failure, and characterize any murmurs heard. Red flags requiring pediatric cardiology referral include holosystolic, diastolic, or loud murmurs; abnormal heart sounds; or physical findings suggesting heart disease. Echocardiography can definitively diagnose structural issues.
Murmur
Heart murmurs are common in children but may indicate structural heart disease. A thorough history and physical exam is necessary to evaluate murmurs. Historical elements that increase likelihood of pathology include family history of sudden cardiac death or congenital heart disease, prenatal exposures, and certain genetic disorders. The physical exam should assess vital signs, exercise capacity, signs of heart failure, and characterize the murmur. Red flags include holosystolic, loud (> grade 3), harsh murmurs or those with maximal intensity standing or at the upper left sternal border. Echocardiography is recommended for murmurs with concerning history or exam findings or when the cause cannot be determined to make a definitive diagnosis.
Venous thrombosis
A venous thrombosis occurs when a blood clot (thrombus) forms inside a vein. Certain genetic factors like mutations in Factor V and prothrombin genes can increase the risk of thrombosis by making the blood more likely to clot. Environmental factors like taking oral contraceptives also increase risk. Deep vein thrombosis, which often originates in the legs, is the most common type of thrombosis and can lead to potentially fatal pulmonary embolisms if clots break off and travel to the lungs. Testing for genetic mutations is recommended for those with a personal or family history of thrombosis, recurrent clots, or clots in unusual areas.
Venous thrombosis
A venous thrombosis occurs when a blood clot (thrombus) forms inside a vein. Certain genetic factors like mutations in Factor V and prothrombin genes can increase the risk of thrombosis by making the blood more likely to clot. Environmental factors like taking oral contraceptives also increase risk. Deep vein thrombosis (DVT) in the legs is a common type of thrombosis that can dislodge and become a potentially fatal pulmonary embolism. Testing for Factor V and prothrombin mutations is recommended for those with a history of unusual or recurrent thrombosis, especially at a young age or while taking oral contraceptives.
Atrial fibrillation &stroke feb 2015 ngh
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Cyanotic Heart Disease
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.
2. heart pathology; congenital disorders
This document summarizes congenital heart disease, noting that ventricular septal defects (VSDs) are the most common type. Causes are often multifactorial and developmental. Clinical features include left-to-right or right-to-left shunts, or obstruction. Common defects causing left-to-right shunts are VSDs, atrial septal defects (ASDs), and patent ductus arteriosus. Tetralogy of Fallot is the most common cyanotic congenital heart disease and involves pulmonary stenosis, ventricular hypertrophy, a VSD, and an overriding aorta. Transposition of the great arteries is also discussed.
Genetics of Congenital Heart Disease
This is presentation on the genetics of congenital heart diseases for any students interested in pediatric cardiology.
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Prenatal diagnosis of frequently seen fetal syndromes can be made based on characteristic ultrasound findings and further confirmed through genetic testing. For Noonan syndrome, mutations in genes such as PTPN11, KRAS, and RAF1 can be found in 17% of cases with increased nuchal translucency and other ultrasound abnormalities. Genetic testing for these and other genes associated with Noonan spectrum disorders can provide prenatal diagnosis. Chromosomal microarray analysis may also detect copy number variants not seen by karyotyping in some cases with abnormal cardiac ultrasound findings and a normal karyotype.
Comprehensive survey of human genetic diseases
This document provides an overview of the importance of genetics to medicine. It discusses that over 12 million Americans have genetic disorders, and genetics plays a role in many medical conditions. It then covers several key genetics topics including single gene defects, chromosomal abnormalities, inheritance patterns, genetic disorders, and birth defects. Specific genetic disorders like cystic fibrosis, Tay-Sachs disease, and phenylketonuria are summarized. Key genetic terminology is also defined.
6. genetic disorder
This document discusses genetic disorders, which are caused by mutations in genes or chromosomes inherited from a person's parents. It classifies genetic disorders into single gene defects, multifactorial disorders caused by multiple genes and environment, and chromosomal/cytogenic disorders involving changes in chromosome number or structure. Examples are provided for autosomal dominant and recessive disorders, sex-linked disorders, multifactorial disorders, and chromosomal disorders including Down syndrome, Klinefelter syndrome, and Turner syndrome.
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- 1. Could be caused by genetic transmission or environmental factors like virus and others teratogens
- 2. Congenital Heart defects affects about 8/1000 live birth constituing one of most commom congenital anomalies in human being
- 3. 13-15% associated to syndromes: autosomic dominant(AD) autosomic recessive (AR) and X linked (XL) syndrome of Marfan (AD) Noonan syndrome, holt-oram syndrome (AD)and Ellis von-Creveld syndrome all with variable expression 5-8% chromosome abnormalities 2-3% Environmental factors (Congenital Rubella) others virus chicken-pox teratogens :Feta alcohol syndrome and Fetal anticonvulsivant syndrome 76 -82% Multifactorial heritage (polygenic)
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