Congenital heart diseases
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  • 1.  Defects of the structure and great vessels of the heart present at birth  Classified into 2 categories o Cyanotic o Acyanotic (left-to-right shunts or obstructive)  Causes: o Chromosomal abnormalities e.g. trisomy 13, 18 & 21 o Genetic syndrome e.g. Holt- Oram, Noonan’s, Williams, 22q11 deletion o Maternal illnesses e.g. diabetes mellitus, rubella, SLE (Systemic Lupus Erythematosis) o Environmental exposure o Alcohol
  • 2.  ACYANOTIC HEART ANOMALITIES o Left-to-right shunts  Oxygenated blood shunts from LH (atrium, ventricle, aorta) to RH (atrium, ventricle) or pulmonary artery through opening in the heart  Blood shunts from left to right due to high systemic and vascular resistance than pulmonary pressure and resistance.  Shunt increases pulmonary artery pressure to a varying degree.  Greater the increase, the more severe the symptoms.  Small shunt is asymptomatic
  • 3.  High pressure shunts o Occur at the ventricular or great artery level o Apparent several days to weeks after birth  Low pressure shunts o Atrial septal defect o Apparent later in life o If untreated, elevated pulmonary artery pressure may lead to Eisenmenger’s syndrome (elevated pulmonary artery pressure may reverse left to right shunt to right to left shunt. Deoxygenate d blood gets into systemic circulation causing hypoxia.)
  • 4.  Large left-to-right shunts o E.g. large ventricular septal defect, patent ductus arteriosis causes volume overload o May lead to heart failure (HF) or failure to thrive o Decreases lung compliance, leading to frequent lower respiratory tract infections
  • 5. o Obstructive lesions  Blood flow is obstructed without shunting, causing a pressure gradient across the obstruction  Increase in pressure distal to the obstruction may cause ventricular hypertrophy and HF  Principle manifestation- heart murmur, result of turbulent blood flow through obstructed point.  E.g. congenital aortic stenosis, congenital pulmonary stenosis
  • 6.  CYANOTIC HEART ANORMALITIES o Right-to left shunting o Deoxygenated venous blood is shunted to the left heart o Reduces systemic arterial oxygen saturation o If >5L/dl of deoxygenated Hb, results in cyanosis o Infants with dark pigmentation-difficult to detect cyanosis
  • 7.  Complications of persistent cyanosis o Polycythemia (large number of RBC’s in the body) o Clubbing o Thromboembolism (including stroke) o Bleeding disorders o Brain abscess o Hyperuricemia (excess uric acid in the blood) o Pulmonary blood flow may be increased, normal or reduced (depends on the anormality), resulting in variety severities of cyanosis
  • 8.  Heart failure o Some congenital heart defects do not alter hemodynamics e.g. bicuspid aortic valve, mild aortic stenosis. o Others cause pressure or volume overload, sometimes causing HF o HF occurs when,  Low cardiac output to meet body’s metabolic activities  Body cannot handle venous return, leading to pulmonary congestion (in left ventricular failure), or edema(right ventricular failure)
  • 9.  Signs and symptoms of HF o Tachycardia o Tachypnea o Dyspnea with feeding o Diaphoresis o Restlessness o Irritability
  • 10.  Dyspnea with feeding;  Causes inadequate intake and poor growth  May worsen  Other manifestations  Circulatory shock- may be the first manifestation of any anormalities (e.g. hypoplastic left heart syndrome)  Critical aortic stenosis  Interrupted aortic arch  Chest pains may cause irritability
  • 11. o Murmurs  Left-to-right shunts and obstructive lesions cause systolic murmurs  Systolic murmurs and thrills most prominent at surface closest to point of origin making diagnosis helpful  Mid systolic(ejection systolic) murmur caused by increased flow across pulmonary or aortic valve  Holosystolic(pansystolic) murmur caused by regurgitant flow across atrioventricular valve or ventricular septal defect (VSD)
  • 12.  PDA (patent ductus arteriosis) causes continuous murmur, uninterrupted by the second heart sound because blood floes through DA during systole and diastole. o Cyanosis  Characterized by bluish discoloration of mucus membranes, nail beds or clubbing of nails, pulse oxymetry <93-95%
  • 13.  Diagnosis  Pulse oxymetry  ECG  C-xray  Endocardiography  Cardiac MRI/CT angigraphy- clarify anatomical details  Cardiac catheterization with angiocardiography- confirm diagnosis/assess severity of anomality
  • 14.  Medical Rx of HF  Oxygen  Diuretics-Furosemide 1mg/kg IV  ACE inhibitors  Digoxin  Dopamine/Dobutamine 5-15 micrograms/kg/min  Salt restriction  Surgical repair of anormality