Tetralogy of Fallot

Patient presentation:
A.B. is a 23 year-old university student from Indonesia presenting to the ER with complaints of chest pain of 19 months duration.  Chest pain was retrosternal, sharp in character, non-radiating, and aggravated by strenuous activities and moderately relieved with rest and taking analgesia.  Pt stated a history of dyspnea on exertion and effort intolerance since childhood.  Pt remembered frequent squatting to relieve episodes of breathlessness following exertion.  Pt also states occasional palpitations lasting 5 minutes or more and associated with dizziness and syncopal attacks. Pt denies history of cough, change in urine or bowels, leg swelling, nocturia or oliguria.  General examination showed central cyanosis with grade 4 digital clubbing.  A.B.'s pulse was regular with a rate of 80 BPM.   BP was 120/70 mmHg.  Cardiac examination did not show displacement of apex but found palpable systolic thrills over the left sternal border and pulmonary areas.  A soft first heart sounds and a pansystolic murmur over the left parasternal area and an ejection systolic murmur over the pulmonary area were heard.  The lungs were clear and abdomen was non-tender.

Diagnosis:
Chest radiograph showed enlarged boot shaped heart with pulmonary oligemia. Electrocardiogram showed sinus rhythm, normal PR interval, right atrial enlargement, right ventricular hypertrophy, and inverted T-waves in the anterior and inferior leads.  The echocardiogram revealed a non-restrictive ventricular septal defect with a large aortic override.  Left ventricular systolic function was impaired with right ventricular hypertrophy.  There was no aortic or mitral regurgitation. Pt Hct was 72%, and a blood film showed polycythemia. 

Pt was diagnosed with Tetralogy of Fallot.

Treatment:
Pt was placed on beta blockers and low dose aspirin.  Pt had a serial venesection to reduce his packed cell volume, which slightly helped to reduce his symptoms.  Ultimately, the pt. required a total intra-cardiac repair.

Outcome:
A.B will require significant follow-up in the future.