CONGENITAL DISEASES

Dr. Meg-angela Christi Amores

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%

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

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-

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Fetal circulation

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

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

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

2 major groups

1. Acyanotic Congenital heart lesions2. Cyanotic Congenital heart lesions

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

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

PDA (patent ductus arteriosus)

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

Manifestations

small patent ductus does not usually have any symptoms

large PDA will result in heart failure Cardiac enlargement Classic continuous murmur (machinery-

like)

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

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

Other congenital lesions - acyanotic

Other congenital lesions - acyanotic

Other congenital lesions - acyanotic

Other congenital lesions - cyanotic

Other congenital lesions - cyanotic