CONGENITAL HEART DISEASES Francis G. Moria, MD

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

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

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

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

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

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

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

Left-to-Right Shunts

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

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

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

Right-to-Left Shunts

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

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

Obstructive Congenital Anomaly

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

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

Thank you