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

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
 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

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 (ductus arteriosus
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
1. Acyanotic Congenital heart lesions
2. Cyanotic Congenital heart lesions

10. 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

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

12. PDA (patent ductus arteriosus)

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