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Presentation on theme: "CONGENITAL HEART DISEASES"— Presentation transcript:

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


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