The Complicated Genetics Behind Uncomplicated Type B Aortic Dissection.

IF 1.4 4区医学 Q3 PERIPHERAL VASCULAR DISEASE Annals of vascular surgery Pub Date : 2025-03-07 DOI:10.1016/j.avsg.2025.02.007

Ella Auton, Mohiuddin Kamal, Matti Jubouri, Mohamad Bashir

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Abstract

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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来源期刊

Annals of vascular surgery 医学-外科

CiteScore

3.00

自引率

13.30%

发文量

603

审稿时长

50 days

期刊介绍： Annals of Vascular Surgery, published eight times a year, invites original manuscripts reporting clinical and experimental work in vascular surgery for peer review. Articles may be submitted for the following sections of the journal: Clinical Research (reports of clinical series, new drug or medical device trials) Basic Science Research (new investigations, experimental work) Case Reports (reports on a limited series of patients) General Reviews (scholarly review of the existing literature on a relevant topic) Developments in Endovascular and Endoscopic Surgery Selected Techniques (technical maneuvers) Historical Notes (interesting vignettes from the early days of vascular surgery) Editorials/Correspondence

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