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Cardiol Clin. 2010 May;28(2):191-7. doi: 10.1016/j.ccl.2010.01.017.

Genetic testing in aortic aneurysm disease: PRO.

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  • 1Department of Internal Medicine, University of Texas Health Science Center at Houston, 6431 Fannin Street MSB 6.100, Houston, TX 77030, USA. Dianna.m.milewicz@uth.tmc.edu

Abstract

Thoracic aortic aneurysms leading to type A dissections (TAAD) are the major diseases affecting the aorta. A genetic predisposition for TAAD can occur as part of a genetic syndrome. It can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Genetic heterogeneity for familial TAAD has been demonstrated with the identification of four genes leading to TAAD. Genetic testing for TAAD and the phenotype and management of patients harboring mutations in these genes are addressed in this article.

Copyright 2010 Elsevier Inc. All rights reserved.

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PMID:
20452526
[PubMed - indexed for MEDLINE]
PMCID:
PMC3615454
Free PMC Article
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