Overview
Definition
A cyanotic congenital heart defect characterized by four classic anomalies: ventricular septal defect (VSD), pulmonary stenosis, right ventricular hypertrophy, and overriding aorta.
Epidemiology
The most common cyanotic congenital heart disease in newborns.
Etiology & Risk Factors
- Anterosuperior deviation of the infundibular septum during embryogenesis
- Association with DiGeorge Syndrome (22q11 deletion)
Clinical Symptoms
- Cyanosis ('blue baby')
- 'Tet spells' (hypercyanotic episodes triggered by crying/feeding, relieved by squatting)
- Systolic ejection murmur at left sternal border
- Clubbing of fingers
Clinical Approach
Diagnosis
- Echocardiography
- Chest X-Ray showing a classic 'boot-shaped heart' (due to RV hypertrophy and small pulmonary artery)
Management
- Surgical correction (VSD closure and pulmonary valve relief) in infancy
- Oxygen, knee-to-chest position, and beta-blockers for Tet spells
Complications
- Arrhythmias
- Sudden death
- Right heart failure
- Infective endocarditis