The Complicated Genetics Behind Uncomplicated Type B Aortic Dissection.

Ann Vasc Surg

Vascular & Endovascular Surgery, Velindre, University NHS Trust, Cardiff, Wales, UK.

Published: March 2025

Introduction: Up to 50% of uncomplicated type B aortic dissection (unTBAD) cases progress to become complicated with a mortality rate of up to 42% within 5 years of onset. Morphological and clinical parameters have previously been defined for the decision of surgical intervention in unTBAD to improve clinical outcomes. The analysis of genetic variants in this risk stratification has demonstrated a lack of evidence to influence clinical decision-making.

Methods: A comprehensive literature review was conducted using multiple electronic databases. A selection of genes recognised in thoracic aortic aneurysms and dissections (TAAD) were investigated in association with clinical outcomes in type B aortic dissections (TBAD).

Results: Case studies highlighted the impact of variants in FBN1, COL3A1, ACTA2, MYH11, PRKG1, TGFB1, TGFBR1 and TGFBR2 on clinical outcomes in TBAD. Patients who carry variants in these genes experience more rapid disease progression and benefit from surgery.

Discussion: The presence of a variant in genes that underlie unTBAD aetiology could impact clinical decision-making and risk stratification in unTBAD. Emerging evidence supports TEVAR for unTBAD patients who have a higher risk of developing complications. The use of genetics in the management of unTBAD patients may help to improve the adverse clinical outcomes in unTBAD.

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Source
http://dx.doi.org/10.1016/j.avsg.2025.02.007DOI Listing

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