Genetic Testing in Aortic Aneurysm Disease: PRO

Overview

Journal Cardiol Clin

Publisher Elsevier

Specialty Cardiology & Vascular Diseases

Date 2010 May 11

PMID 20452526

Citations 15

Authors

Dianna M Milewicz

Alicia A Carlson

Ellen S Regalado

Affiliations

Soon will be listed here.

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.

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