title: Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.
abstract: Isolated supravalvular aortic stenosis (SVAS) commonly is an autosomal dominant trait; it may also occur in the Williams syndrome (WS). While peripheral pulmonary stenosis (PPS) can occur in the same individual with familial isolated SVAS, concurrence of these lesions in different relatives of a family is uncommon. We describe five affected individuals in one family; three had isolated SVAS, one had isolated PPS, and one had SVAS and PPS. Based on this family and review of literature, we suggest that SVAS is a form of arterial dysplasia encompassing PPS in its spectrum. It is developmentally distinct from other left heart obstructive lesions that are hypothesized to be related to blood flow abnormalities in the developing embryo. We also conclude that the clinical disorder in this family represents one that is distinct from WS.
authors.affiliation: Department of Pediatrics, College of Medicine, University of Florida, Gainesville.
authors.forename: A
authors.initials: A
authors.lastname: Kumar
authors.forename: H J
authors.initials: HJ
authors.lastname: Stalker
authors.forename: C A
authors.initials: CA
authors.lastname: Williams
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001024:Aortic Valve Stenosis / Q000150:complications / Q000196:embryology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000196:embryology / Q000235:genetics*