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Prog Cardiovasc Dis. 2013 Jul-Aug;56(1):57-67. doi: 10.1016/j.pcad.2013.06.002.

Practical genetics of thoracic aortic aneurysm.

Author information

1
Aortic Institute at Yale-New Haven, Yale University School of Medicine, New Haven, CT 06510, USA. john.elefteriades@yale.edu

Abstract

This chapter will provide a practical look at the rapidly evolving field regarding the genetics of thoracic aortic aneurysm. It will start with a look at the history of the genetics of thoracic aortic aneurysm and will then move on to elucidating the discovery of familial patterns of thoracic aortic aneurysm. We will next review the Mendelian genetics of transmission of thoracic aortic aneurysm. We will move on to the molecular genetics at the DNA level and finish with a discussion of the molecular genetics at the RNA level, including a promising investigational "RNA Signature" test that we have been developing at Yale.

KEYWORDS:

Aneurysm; Aortic dissection; Bicuspid aortic valve; Genetics; IMT; MMPs; Marfan disease; Mutations; intimal–medial thickness; matrix metalloproteinases

PMID:
23993238
DOI:
10.1016/j.pcad.2013.06.002
[Indexed for MEDLINE]
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