Congenital Diseases

1. Congenital Diseases Dr. Meg-angela Christi Amores

2. Congenital Heart Disease • 0.5-0.8% of live births • incidence is higher in stillborns (3-4%), abortuses (10-25%), and premature infants (about 2%) • diagnosis is established by 1 wk of age in 40-50% of patients with congenital heart disease and by 1 mo of age in 50-60%

3. Relative frequency of Major Congenital lesions • Ventricular septal defect25-30 • Atrialseptal defect (secundum)6-8 • Patent ductus arteriosus6-8 • Coarctationof aorta5-7 • Tetralogyof Fallot5-7 • Pulmonary valve stenosis5-7 • Aortic valve stenosis4-7

4. Relative Frequency of Major Congenital lesions • d-Transposition of great arteries3-5 • Hypoplastic left ventricle1-3 • Hypoplastic right ventricle1-3 • Truncus arteriosus1-2 • Total anomalous pulmonary venous return1-2 • Tricuspid atresia1-2 • Single ventricle1-2 • Double-outlet right ventricle1-2 Others5-10

5. Fetal circulation

6. Congenital Disease • Most congenital defects are well tolerated in the fetus because of the parallel nature of the fetal circulation • only after birth when the fetal pathways (ductusarteriosus and foramen ovale) are closed that the full hemodynamic impact of an anatomic abnormality becomes apparent

7. Etiology • Cause is unknown • There is progress in identifying genetic basis of many congenital heart lesions • small percentage - related to chromosomal abnormalities, in particular, trisomy 21, 13, and 18 and Turner syndrome • 2-4% -associated with known environmental or adverse maternal conditions and teratogenic influences, including maternal diabetes mellitus, phenylketonuria, or systemic lupus erythematosus

8. diabetic mothers are five times more likely to have congenital cardiovascular malformations • most congenital heart disease is still relegated to a multifactorial inheritance pattern • Fetal echocardiography improves the rate of detection

9. 2 major groups • Acyanotic Congenital heart lesions • Cyanotic Congenital heart lesions

10. Acyanotic Congenital heart lesions • Increased volume load: • ASD (atrialseptal defect) • VSD (ventricular septal defect) • AV septal defects • PDA (patent ductusarteriosus) • Increased pressure load: • valvularpulmonicstenosis • valvularaortic stenosis • coarctationof the aorta

11. Cyanotic Congenital heart lesions • Decreased Pulmonary Blood Flow - obstruction to pulmonary blood flow and a pathway by which systemic venous blood can shunt from right to left and enter the systemic circulation • tricuspid atresia • Tetralogyof Fallot • single ventricle with pulmonary stenosis • Increased Pulmonary Blood flow • Transposition of the great vessels • Total anomalous pulmonary venous return • Truncusarteriosus

12. PDA (patent ductusarteriosus)

13. Pathophysiology • blood shunts left to right through the ductus • from the aorta to the pulmonary artery • pulmonary artery pressure may be elevated to systemic levels during both systole and diastole • risk for the development of pulmonary vascular disease if left unoperated

14. Manifestations • small patent ductus does not usually have any symptoms • large PDA will result in heart failure • Cardiac enlargement • Classic continuous murmur (machinery-like)

15. Diagnosis • ECG • Left ventricular hypertrophy • Xray • prominent pulmonary artery with increased intrapulmonary vascular markings • 2D echocardiography • left atrial and left ventricular dimensions are increased • Visualization of the patent ductus

16. Treatment • Irrespective of age, patients with PDA require surgical or catheter closure • should not be unduly postponed after adequate medical therapy for cardiac failure has been instituted • thoracoscopic techniques to minimize scarring and reduce postoperative discomfort

17. Other congenital lesions - acyanotic

18. Other congenital lesions - acyanotic

19. Other congenital lesions - acyanotic

20. Other congenital lesions - cyanotic

21. Other congenital lesions - cyanotic