| Unicuspid aortic valve, hand anomalies: a heart-hand syndrome. | |
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MedLine Citation:
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PMID: 20090511 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Embryonic heart and limb development are closely related with >100 known inherited disorders affecting both. Common limb defects include duplication, deficiencies, and hypoplasia. Ventricular septal defects and atrial septal defects are the commonest associated cardiac conditions. A positive association exists between heart defects and limb disorders when these disorders are analyzed separately. Closer associations exist between heart defects and upper limb defects compared with lower limb defects. The majority of limb defects occur in the more distal parts of the affected limb. Genes expressed in both the heart and limb development include TGF-beta, BMP4, Msx transcription factor, HAND gene, retinoic acid receptor, and sonic hedgehog gene. Radial ray-heart syndromes are better described than ulnar ray-hand syndromes. There is significant variability of malformations. Partial phenocopies that are not genetically linked are well documented. An appreciation of ulnar anomalies should always provoke an evaluation of the heart for potential abnormalities. Although heart-hand syndromes are rare, valvular abnormalities and aortic aneurysms can lead to significant complications unless identified in time. The presence of radial or ulnar ray anomalies merit a detailed cardiac examination and a low threshold for cardiac imaging. |
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Authors:
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Sudip Nanda; Santo Longo; Mohammad I Arastu |
Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: The American journal of the medical sciences Volume: 339 ISSN: 1538-2990 ISO Abbreviation: Am. J. Med. Sci. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-12 Completed Date: 2010-04-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0370506 Medline TA: Am J Med Sci Country: United States |
Other Details:
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Languages: eng Pagination: 296-9 Citation Subset: AIM; IM |
Affiliation:
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Department of Internal Medicine, Saint Luke's Hospital, Bethlehem, Pennsylvania, USA. sudipnanda2000@yahoo.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
physiopathology Adult Aortic Valve / abnormalities* Hand Deformities, Congenital / diagnosis*, physiopathology Humans Male Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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