Comparison of Genes Associated with Thoracic and Abdominal Aortic Aneurysms

Argyrios Gyftopoulos; Bulat A. Ziganshin; John A. Elefteriades; Cassius I. Ochoa Chaar

doi:10.1055/s-0043-57266

AORTA, Table of Contents

CC BY-NC-ND 4.0 · Aorta (Stamford) 2023; 11(03): 125-134
DOI: 10.1055/s-0043-57266

State-of-the-Art-Review

Comparison of Genes Associated with Thoracic and Abdominal Aortic Aneurysms

Authors

Argyrios Gyftopoulos

¹National Kapodistrian University of Athens, School of Medicine, Athens, Greece
Bulat A. Ziganshin

²Aortic Institute, Yale University School of Medicine, New Haven, Connecticut
John A. Elefteriades

²Aortic Institute, Yale University School of Medicine, New Haven, Connecticut
Cassius I. Ochoa Chaar

³Division of Vascular Surgery and Endovascular Therapy, Department of Surgery, Yale University School of Medicine, New Haven, Connecticut

Abstract

Aneurysms impacting the ascending thoracic aorta and the abdominal aorta affect patient populations with distinct clinical characteristics. Through a literature review, this paper compares the genetic associations of ascending thoracic aortic aneurysm (ATAA) with abdominal aortic aneurysms (AAA). Genes related to atherosclerosis, lipid metabolism, and tumor development are associated specifically with sporadic AAA, while genes controlling extracellular matrix (ECM) structure, ECM remodeling, and tumor growth factor β function are associated with both AAA and ATAA. Contractile element genes uniquely predispose to ATAA. Aside from known syndromic connective tissue disease and poly-aneurysmal syndromes (Marfan disease, Loeys–Dietz syndrome, and Ehlers–Danlos syndrome), there is only limited genetic overlap between AAA and ATAA. The rapid advances in genotyping and bioinformatics will elucidate further the various pathways associated with the development of aneurysms affecting various parts of the aorta.

Keywords

abdominal aortic aneurysm - thoracic aortic aneurysm - genetics - mutation - polymorphism

Full Text

References

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