CONGENITAL DISEASES Dr. Meg-angela Christi Amores

Congenital Heart Disease  % 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 Others5-10

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 lesions 2. 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 - cyanotic