title: Familial supravalvular aortic stenosis. Report of a large family and review of the literature.
abstract: Familial supravalvular aortic stenosis has been recognized as a distinct syndrome. A large family with five proven cases and a review of the literature on familial supravalvular aortic stenosis are presented. The diagnosis was substantiated in all 63 cases by cardiac catheterization, surgery, or postmortem examination.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001018:Aortic Diseases / Q000150:complications / Q000235:genetics* / Q000601:surgery; D001021:Aortic Valve / Q000002:abnormalities; D001024:Aortic Valve Stenosis / Q000235:genetics; D001027:Aortography; D002648:Child; D002675:Child, Preschool; D003251:Constriction, Pathologic / Q000235:genetics / Q000601:surgery; D003330:Coronary Vessel Anomalies / Q000150:complications; D005260:Female; D006350:Heart Valve Prosthesis; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011651:Pulmonary Artery / Q000002:abnormalities