Tetralogy of Fallot with absent pulmonary valve: definitive diagnosis by two-dimensional echocardiography

A case is presented of a 27-day-old boy with Tetralogy of Fallot and absent pulmonary valve. The two-dimensional echocardiographic examination demonstrated: subaortic ventricular septal defect, overriding aorta, absence of the pulmonary valve with restrictive anulus, and massive dilatation of the pulmonary artery. These anatomic details were then confirmed by angiography and surgery. The echocardiographic features of Tetralogy of Fallot with absent pulmonary valve are typical, and allow the correct diagnosis to be made noninvasively. The haemodynamic investigation becomes obviously easier, and angiocardiography may be devoted to the study of possible additional defects, that are difficult to detect by echocardiography, like multiple ventricular septal defects, or peripheral pulmonary branch anomalies.