1. CONGENITAL HEART DISEASES
Francis G. Moria, MD

2. CHD
Abnormalities of the heart or great vessels that are present from birth
Most arise from faulty embryogenesis
Morphologic defects of individual chambers or regions of the heart

3. CHD Atrial septal defect (ASD) Ventricular septal defect (VSD)
Patent ductus arteriosus (PDA)
Atrioventricular septal defect
Tetralogy of Fallot (TOF)
Transposition of the great arteries (TGA)
Truncus arteriosus
Tricuspid atresia
Total anomalous pulmonary venous connection
Coarctation of the aorta
Pulmonary stenosis and atresia
Aortic stenosis and atresia

4. Epidemiology Most common type of heart disease among children
1% of live births
Philippine prevalence: 317,065

5. Frequencies of CHD VSD 42% ASD 10% Pulmonary stenosis 8% PDA 7% TOF 5%
Coarctation of aorta
AV septal defect 4%
Others
11%

6. Etiology Caused by developmental abnormalities
Well-defined genetic or environmental factors are identifiable in only about 10% of cases
Genetic factors:
Familial forms
Certain chromosomal abnormilities
Environmental factors:
Congenital rubella infection
teratogens

7. Genetics Mutation in transcription factors
TBX5: associated with ASD and VSD
NKX2.5: associated with ASD
Deletions in chromosome 22q11.2: associated with outflow tract defects
Single gene defects: situs and looping defects

8. Clinical Features Malformations causing
Left-to-right shunt (ASD, VSD, PDA)
Right-to-left-shunt (TOF, TGA)
Obstruction (coarctation of the aorta)

9. Left-to-Right Shunts

10. Atrial Septal Defect Abnormal opening in the atrial septum
Usually asymptomatic until childhood
Survival comparable to normal individuals

11. Ventricular Septal Defect
Incomplete closure of the ventricular septum
Most common congenital cardiac anomaly
Frequently associated with TOF
May spontaneously close or progress to irreversible cardiopulmonary dysfunction

12. Patent Ductus Arteriosus
Ductus arteriosus remains open after birth
Characteized by a “machinery-like” murmur
Most often does not produce functional difficulties at birth

13. Right-to-Left Shunts

14. Tetralogy of Fallot
Most common form of cyanotic congenital heart disease
4 features
Ventricular septal defect
Pulmonary stenosis
Overriding of the aorta
Right ventricular hypertrophy

15. TGA Aorta arises from the right ventricle
Pulmonary artery arises from the left ventricle
Without surgery, most patients die within the first few months of life

16. Obstructive Congenital Anomaly

17. Coarctation of the Aorta
Narrowing of the aorta
Males affected twice as females
Present in females with Turner syndrome
Hypertension in the upper extremities
Weak pulses and lower blood pressure in the lower extremities

18. Management Surgery may fully correct the hemodynamic abnormalities
The heart following repair may not be fully normal

19. Thank you