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Review
. 2023 Mar 7;19(2):24-28.
doi: 10.14797/mdcvj.1218. eCollection 2023.

Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?

Valeria E Duarte  1   2 , Raman Yousefzai  3 , Michael N Singh  4   5
Affiliations
Review

Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?

Valeria E Duarte et al. Methodist Debakey Cardiovasc J. .

Abstract

Up to 25% of patients with thoracic aortic disease have an underlying Mendelian pathogenic variant. This is a heterogeneous group of disorders known as heritable thoracic aortic diseases (HTAD). Diagnosing associated pathogenic gene variants and syndromes is critical, as the underlying genetics have an implication in medical management, surveillance, thresholds for surgical intervention, surgical risk, pregnancy risk, and risk of inheritance by the offspring. Recently released 2022 American College of Cardiology/American Heart Association guidelines for the diagnosis and management of aortic diseases provide specific recommendations to identify patients at risk for heritable conditions and who should undergo genetic testing.

Keywords: Marfan syndrome (MFS); genetic testing; genetic variants; heritable thoracic aortic diseases (HTAD); nonsyndromic HTAD; thoracic aortic aneurysms (TAD).

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Conflict of interest statement

The authors have no competing interests to declare.

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