| The pathogenesis of aortopathy in Marfan syndrome and related diseases. | |
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MedLine Citation:
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PMID: 20425163 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Marfan syndrome is a systemic connective tissue disorder that is inherited in an autosomal-dominant pattern with variable penetrance. Although there are many clinical manifestations of this disease, the most life threatening are cardiovascular complications, including mitral valve prolapse and aortic root aneurysm. When the primary defect was discovered in the fibrillin-1 gene, it was hypothesized that mutations in fibrillin-1 resulted in a weakened and disordered elastic architecture. However, recent evidence has suggested that the Marfan syndrome is caused by more than just a disordered microfibril matrix. Interest was stimulated when it was discovered that fibrillin-1 mutations enhanced the release of sequestered latent transforming growth factor-beta, a well-described mediator of vascular remodeling. This article focuses on the pathophysiology of aortopathy in the Marfan syndrome and related diseases, with special emphasis on the role of transforming growth factor-beta in mediating the pathogenesis of this disease. |
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Authors:
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Jeffrey A Jones; John S Ikonomidis |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Current cardiology reports Volume: 12 ISSN: 1534-3170 ISO Abbreviation: Curr Cardiol Rep Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-04-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100888969 Medline TA: Curr Cardiol Rep Country: United States |
Other Details:
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Languages: eng Pagination: 99-107 Citation Subset: IM |
Affiliation:
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Medical University of South Carolina, Charleston, 29425-2950, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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