Genetic Causes of Thoracic Aortic Aneurysm: A Review

Rachel E. Wittenberg; Mark E. Lindsay

doi:10.14797/mdcvj.1908

Genetic Causes of Thoracic Aortic Aneurysm: A Review

Methodist DeBakey Cardiovascular Journal

Volume 22 (2026): Issue 4

By: Rachel E. Wittenberg and Mark E. Lindsay

Open Access

|Sep 2026

Abstract

Thoracic aortic aneurysm (TAA) is an important cause of cardiovascular morbidity and mortality. TAA may occur due to inheritable genetic variants affecting the TGFβ signaling cascade, the extracellular matrix, or smooth muscle contraction, which are essential to maintain connective tissue homeostasis and vascular wall integrity. In this review, we summarize the available evidence on the genetics of thoracic aortic aneurysm including known syndromic and non-syndromic hereditary thoracic aortic disorders, the increasingly recognized role of polygenic risk, and the association of TAA with other arteriopathies. We also discuss the evolving role of genetic testing for patients with TAA. A better understanding of genetic predictors for TAA has the potential to improve screening, risk stratification, and the medical and surgical management for this patient population.

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Articles in this issue

DOI: https://doi.org/10.14797/mdcvj.1908 | Journal eISSN: 1947-6108

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Language: English

Page range: 87 - 101

Submitted on: Jun 27, 2026

Accepted on: Aug 18, 2026

Published on: Sep 15, 2026

Published by: Houston Methodist DeBakey Heart & Vascular Center

In partnership with: Paradigm Publishing Services

Keywords:

thoracic aortic aneurysm,

cardiovascular genetics,

aortopathy,

polygenic risk scores

© 2026 Rachel E. Wittenberg, Mark E. Lindsay, published by Houston Methodist DeBakey Heart & Vascular Center
This work is licensed under the Creative Commons Attribution-NonCommercial 4.0 License.

Volume 22 (2026): Issue 4