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