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. 2018 Feb;6(1):13-20.
doi: 10.1055/s-0038-1639612. Epub 2018 Jul 27.

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications

Adam J Brownstein  1 , Valentyna Kostiuk  1 , Bulat A Ziganshin  1   2 , Mohammad A Zafar  1 , Helena Kuivaniemi  3 , Simon C Body  4 , Allen E Bale  5 , John A Elefteriades  1
Affiliations

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications

Adam J Brownstein et al. Aorta (Stamford). 2018 Feb.

Abstract

Thoracic aortic aneurysms, with an estimated prevalence in the general population of 1%, are potentially lethal, via rupture or dissection. Over the prior two decades, there has been an exponential increase in our understanding of the genetics of thoracic aortic aneurysm and/or dissection (TAAD). To date, 30 genes have been shown to be associated with the development of TAAD and ∼30% of individuals with nonsyndromic familial TAAD have a pathogenic mutation in one of these genes. This review represents the authors' yearly update summarizing the genes associated with TAAD, including implications for the surgical treatment of TAAD. Molecular genetics will continue to revolutionize the approach to patients afflicted with this devastating disease, permitting the application of genetically personalized aortic care.

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Conflict of interest statement

The authors declare no conflict of interest related to this manuscript.

Figures

Fig. 1
Fig. 1
Ascending aorta dimensions for prophylactic surgical intervention. (Data derived from Table 1 and modified with permission from Brownstein et al. 1 ) Any gene newly reported during the past year to be associated with TAAD is highlighted in red. Abbreviations: ECM, extracellular matrix; SMC, smooth muscle cell; TAAD, thoracic aortic aneurysm and/or dissection; TGF, transforming growth factor.
See this image and copyright information in PMC

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