Tetralogy of Fallot with absent pulmonary valve: diagnostic features and management.

Tetralogy of Fallot with absent pulmonary valve is a rare congenital malformation. The diagnostic features and surgical management in ten patients with this malformation have been described. There were five male and five female patients, (age 3 1/2 to 26 years). The common symptoms were recurrent respiratory tract infection and cyanosis. Examination revealed hyperdynamic precordial pulsations, single second heart sound and an early diastolic murmur along the left sternal border in all. Electrocardiograms were indistinguishable from typical tetralogy of Fallot. Chest X-ray revealed cardiomegaly, prominent pulmonary conus and dilated pulmonary arteries in all cases, lung vascularity being variable. Echocardiographic findings were diagnostic and are discussed in detail. Cardiac catheterization and angiocardiography revealed annular stenosis in all, along with aneurysmal dilatation of main and branch pulmonary arteries. Eight patients underwent intracardiac repair. There was no perioperative mortality. All patients have been followed up for 350 months (mean 29 months).