Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2019 Jun;7(4):99-107.
doi: 10.1055/s-0039-3400233. Epub 2019 Dec 16.

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications

Thais Faggion Vinholo  1 , Adam J Brownstein  2 , Bulat A Ziganshin  1   3 , Mohammad A Zafar  1 , Helena Kuivaniemi  4 , Simon C Body  5 , Allen E Bale  6 , John A Elefteriades  1
Affiliations

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications

Thais Faggion Vinholo et al. Aorta (Stamford). 2019 Jun.

Abstract

Thoracic aortic aneurysm is a typically silent disease characterized by a lethal natural history. Since the discovery of the familial nature of thoracic aortic aneurysm and dissection (TAAD) almost 2 decades ago, our understanding of the genetics of this disorder has undergone a transformative amplification. To date, at least 37 TAAD-causing genes have been identified and an estimated 30% of the patients with familial nonsyndromic TAAD harbor a pathogenic mutation in one of these genes. In this review, we present our yearly update summarizing the genes associated with TAAD and the ensuing clinical implications for surgical intervention. Molecular genetics will continue to bolster this burgeoning catalog of culprit genes, enabling the provision of personalized aortic care.

PubMed Disclaimer

Conflict of interest statement

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

Figures

Fig. 1
Fig. 1
Ascending aortic dimensions for prophylactic surgical intervention (Data derived from Table 1 and modified with permission from Brownstein et al 2 ). Any gene newly reported during the past year to be associated with TAAD is highlighted in red. ECM, extracellular matrix; SMC, smooth muscle cell; TGF, transforming growth factor.
See this image and copyright information in PMC

References

    1. Brownstein A J, Kostiuk V, Ziganshin B A et al.Genes associated with thoracic aortic aneurysm and dissection: 2018 update and clinical implications. Aorta (Stamford) 2018;6(01):13–20. - PMC - PubMed
    1. Brownstein A J, Ziganshin B A, Kuivaniemi H, Body S C, Bale A E, Elefteriades J A. Genes associated with thoracic aortic aneurysm and dissection: an update and clinical implications. Aorta (Stamford) 2017;5(01):11–20. - PMC - PubMed
    1. Verstraeten A, Luyckx I, Loeys B. Aetiology and management of hereditary aortopathy. Nat Rev Cardiol. 2017;14(04):197–208. - PubMed
    1. Zafar M A, Li Y, Rizzo J A et al.Height alone, rather than body surface area, suffices for risk estimation in ascending aortic aneurysm. J Thorac Cardiovasc Surg. 2018;155(05):1938–1950. - PubMed
    1. Ziganshin B A, Elefteriades J A, Eskandari M K, Pearce W K, Yao J ST.Genetic impact on thoracic aortic aneurysmsIn:, eds.Current Vascular Surgery: Northwestern Vascular Symposium Raleigh, NC: PMPH USA; 2017461, 480