Supravalvular aortic and peripheral pulmonary arterial stenoses. A report of eight cases in two generations

Peripheral pulmonary arterial stenosis, either alone or in combination with supravalvular aortic stenosis, is described in two generations of one family. The last child born in the first generation ws the only fatal case and showed severe narrowing and thrombosis of the pulmonary arteries and significant narrowing of the descending aorta. Physical and mental development were normal in the seven surviving patients. Five had slight dyspnea on effort. Hemodynamic and angiocardiogrphic studies showed multiple peripheral pulmonary stenosis in six patients and supravalvular aortic stenosis or aortic hypoplasia in the last three of the first generation and in one of the second generation. The younger children were more severely affected. A marked systolodiastolic caliber variation of the main pulmonary arteries was noted angiographically in all those studied. We suggest that this finding can be used as an indirect sign of the presence of peripheral pulmonary arterial stenosis.