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

Genetic testing in aortic aneurysm disease: PRO

Dianna M Milewicz  1 , Alicia A Carlson, Ellen S Regalado
Affiliations
Review

Genetic testing in aortic aneurysm disease: PRO

Dianna M Milewicz et al. Cardiol Clin. 2010 May.

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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References

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