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 pu lmonary valve annulus associated with a multiple aneurysmal compensatory dy splasia was found. This patient had been followed since the age of seven ye ars for a congenital asymmetric hypertrophic cardiomyopathy. Cardiac Dopple r 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 Eur opean 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 pa rt for some of the signs associated with congenital hypertrophic cardiomyop athy is unclear. However, its role might be disclosed by a rigorous investi gation of the patient's family.