Genetic testing in aortic aneurysm disease: PRO.

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.

• Authors: Dianna M Milewicz, Alicia A Carlson, Ellen S Regalado
• Journal: Cardiology clinics (Cardiol Clin) Vol. 28 Issue 2 Pg. 191-7 (May 2010) ISSN: 1558-2264 [Electronic] Netherlands
• PMID: 20452526 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright 2010 Elsevier Inc. All rights reserved.

Topics

• Aortic Aneurysm (diagnosis, genetics)
• Genetic Predisposition to Disease
• Genetic Testing (methods)
• Humans
• Reproducibility of Results