Multiple aneurysmal dysplasia of pulmonary valvular sinuses with congenital focal aplasia of the annulus.

We report the case of a 22-year-old woman in whom a focal aplasia of the pulmonary valve annulus associated with a multiple aneurysmal compensatory dysplasia was found. This patient had been followed since the age of seven years for a congenital asymmetric hypertrophic cardiomyopathy. Cardiac Doppler analysis showed significant pulmonary valvular insufficiency. The patient underwent heart transplant surgery because of total and refractory cardiac insufficiency. Pathological examination of the explanted heart (at the European Homograft Bank) enabled us to describe this valvular malformation. To date, this anomaly has not been described in the literature. Whether it is a malformation discovered fortuitously, or whether it is responsible in part for some of the signs associated with congenital hypertrophic cardiomyopathy is unclear. However, its role might be disclosed by a rigorous investigation of the patient's family.