1. Congenital Diseases
Dr. Gerrard Uy

2. Congenital Heart Disease
% 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. Etiology
Result of aberrant embryonic development of a normal structure or failure to progress beyond an early stage of embryonic or fetal development

4. Pathophysiology
The anatomic and physiologic changes in the heart and circulation due to any CHD are not static
Progress from prenatal life to adulthood
Consequences:
Pulmonary hypertension
Erythrocytosis
Pregnancy related complications
Infective endocarditis

5. Relative frequency of Major Congenital lesions
Ventricular septal defect25-30
Atrial septal defect (secundum)6-8
Patent ductus arteriosus6-8
Coarctation of aorta5-7
Tetralogy of Fallot5-7
Pulmonary valve stenosis5-7
Aortic valve stenosis4-7

6. 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

7. Fetal circulation

8. 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 (ductus arteriosus and foramen ovale) are closed that the full hemodynamic impact of an anatomic abnormality becomes apparent

9. 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

10. 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

11. 2 major groups Acyanotic Congenital heart lesions

12. Acyanotic Congenital heart lesions
Increased volume load:
ASD (atrial septal defect)
VSD (ventricular septal defect)
AV septal defects
PDA (patent ductus arteriosus)
Increased pressure load:
valvular pulmonic stenosis
valvular aortic stenosis
coarctation of the aorta

13. 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
Tetralogy of Fallot
single ventricle with pulmonary stenosis
Increased Pulmonary Blood flow
Transposition of the great vessels
Total anomalous pulmonary venous return
Truncus arteriosus

14. PDA (patent ductus arteriosus)

15. 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

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

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

18. 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

19. Atrial Septal Defect

20. Atrial Septal Defect Occurs more frequently in females 3 types:
Sinus venosus – near the entry of the superior vena cava into the right atrium
Ostium primum – lie adjacent to the atrioventricular valves, common in Down’s syndrome
Ostium secundum – most common and involves the fossa ovalis

21. Ventricular Septal Defect

22. Ventricular Septal Defect
Opening is usually single
Situated in the membranous portion of the septum
Spontaneous closure is more common in patients born with a small VSD
Operative correction or transcatheter closure is indicated when there is moderate to large left to right shunt

23. Acyanotic CHD without a shunt
Valvular aortic stenosis
More common in males than in females
One of the most common congenital malformations of the heart

24. Coarctation of the Aorta

25. Acyanotic CHD without a shunt – Coarctaion of the Aorta
Coarctation of the Aorta
May occur anywhere but is most common distal to the origin of the left subclavian artery
Occurs in ~7% of patients with CHD
More common in males
Frequent in patients with Turner’s syndrome
10% have circle of willis aneurysms
Manifestations:
Epistaxis, headahce, cold extremities, and claudication
Hypertension in the upper extremities
Absence or delayed pulsations in the femoral arteries

26. Cyanotic CHD – Tetralogy of Fallot

27. Tetralogy of Fallot 4 components: ECG shows RV hypertrophy
Malaligned ventricular septal defect
Obstruction to RV outflow
Aortic override of the VSD
RV hypertrophy
ECG shows RV hypertrophy
CXR shows boot shaped heart (coeur en sabot)

29. Cyanotic CHD- Transposition of the Great Arteries

30. Transposition of the Great Arteries
Commonly called dextro- or D-transposition of the great arteries
The aorta arises rightward anteriorly from the right ventricle and the pulmonary artery from the left ventricle
More common in males
Accounts for ~10% of cyanotic CHD

31. Other Cyanotic Congenital Heart Disease
Single Ventricle
Tricuspid Atresia
Characterized by atresia of the tricuspid valve, interatrial communication and hypoplasia of the right ventricle and pulmonary artery
Ebstein Anomaly
Characterized by downward displacement of the tricuspid valve into the right ventricle