Document Detail

Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.
MedLine Citation:
PMID:  8456853     Owner:  NLM     Status:  MEDLINE    
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.
A Kumar; H J Stalker; C A Williams
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  45     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Mar 
Date Detail:
Created Date:  1993-04-22     Completed Date:  1993-04-22     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  739-42     Citation Subset:  IM    
Department of Pediatrics, College of Medicine, University of Florida, Gainesville.
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MeSH Terms
Abnormalities, Multiple / embryology,  genetics*
Aortic Valve Stenosis / complications,  embryology,  genetics*
Child, Preschool
Genes, Dominant
Pulmonary Valve Stenosis / complications,  embryology,  genetics*
Comment In:
Am J Med Genet. 1994 Feb 15;49(4):454-5   [PMID:  8160744 ]

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