The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance

A series of 10 patients with supravalvular aortic stenosis and a similar facial appearance with mental retardation is described. The patients have identical dental malformations in addition, and 7 patients examined by right heart angiocardiography have multiple, bilateral peripheral pulmonary stenosis. Peripheral pulmonary stenosis is also expected to be present in the remaining patients. The clinical features and the findings obtained at cardiac catheterization, angiocardiography and operation are discussed. Chromosome studies on 3 of these patients have been negative. It is suggested that defective formation of the aortic septum is responsible for the coexistence of peripheral stenosis in both great vessels. The malformation is characterized by hypoplasia of several organs. The findings represent a new syndrome: supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation, a certain facial appearance and complex dental malformations.