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Levy et al. Vessel Plus 2024;8:4 Vessel Plus
DOI: 10.20517/2574-1209.2023.55

Review Open Access

Current understanding of the genetics of thoracic

aortic disease

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Lauren E. Levy , Megan Zak , Jason P. Glotzbach
Division of Cardiothoracic Surgery, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT 84106,
USA.
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Authors contributed equally.
Correspondence to: Dr. Jason P. Glotzbach, Division of Cardiothoracic Surgery, Department of Surgery, University of Utah
Health, 30 N 1900 E, 3C-127, Salt Lake City, UT 84132, USA. E-mail: jason.glotzbach@hsc.utah.edu

How to cite this article: Levy LE, Zak M, Glotzbach JP. Current understanding of the genetics of thoracic aortic disease. Vessel
Plus 2024;8:4. https://dx.doi.org/10.20517/2574-1209.2023.55
Received: 2 Jun 2023 First Decision: 17 Nov 2023 Revised: 23 Dec 2023 Accepted: 11 Jan 2024 Published: 22 Jan 2024

Academic Editors: Christopher Lau, Frank W. Sellke Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
Thoracic aortic dissection is a feared, highly lethal condition most commonly developing from aneurysmal dilation
of the thoracic aorta. Elective prophylactic replacement of thoracic aortic aneurysms dramatically mitigates this
risk. However, diagnosis of a thoracic aortic aneurysm can be challenging. Thoracic aortic disease - horacic aortic
aneurysm and dissection (TAAD) - can be sporadic or heritable. Patients with syndromic heritable TAAD present
with classic phenotype and clinical features correlating to their disease. In contrast, patients with non-syndromic
heritable disease are harder to diagnose due to their lack of defining uniform phenotypes. Recent advances in
genomics have begun to elucidate the genetic underpinnings of non-syndromic TAAD (ns-TAAD) for better
understanding this complex disease and improve diagnosis and management. Herein, we review the foundation of
knowledge in ns-TAAD heritability and key research studies identifying gene mutations in vascular smooth muscle
cells, the extracellular matrix, and TGF-beta signaling present in ns-TAAD. We summarize the current guidelines
for the diagnosis, screening, and surgical management of ns-TAAD including recommendations for genetic testing
of high-risk individuals. Finally, we highlight areas of future research that will continue to advance our
understanding of the complex genetic and epigenetic factors in TAAD.

Keywords: Thoracic aortic disease, genomics, thoracic aortic aneurysm, thoracic aortic dissection

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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