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PMID: 41845085 已发表 · ppublish 英语

Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.

European journal of human genetics : EJHG ·第 34 卷 ·第 6 期 ·2026-06-00

Ghali N, Angwin C, Liebert S, Deaner A, von Klemperer K, Wheeldon N, Johnson D, Sobey G, Samani NJ, Webb TR, Baranowska A, Velvet A, Keigwin S, Baker D, Read K, van Dijk FS, Adlam D

摘要

Spontaneous coronary artery dissection (SCAD) is a cause of acute myocardial infarction predominantly affecting adult women. A proportion of SCAD cases are associated with rare heritable connective tissue disorders. Vascular EDS (vEDS), due to deleterious variants in COL3A1, is one of the most common of these. Our aim was to identify specific features of SCAD in vEDS which may aid patient selection for genetic testing. A systematic review of published cases of individuals with SCAD and vEDS was conducted. Additionally, patients with SCAD and genetically confirmed vEDS (SCAD-vEDS) were identified through the UK national EDS service and UK SCAD registry. Data were collected on presentation, management and extra-cardiac findings. Angiography was compared with an age and sex-matched, exome sequenced, control cohort with SCAD but without vEDS (SCAD-nonvEDS). Data from ten SCAD-vEDS patients were identified. There was a lower average age of SCAD and higher proportion of males in individuals with SCAD-vEDS, however differences should be interpreted carefully given cohort size. Fifty-six cases of SCAD-vEDS were identified through systematic review. Systemic features were present in most but not all cases. This report presents a new, angiographically characterised case-control cohort along with a systematic review of the current literature. Whilst clinical differences appear between the SCAD-vEDS and SCAD-nonvEDS groups, these are insufficient to accurately distinguish SCAD-vEDS from the general SCAD population. All individuals with SCAD should be evaluated for underlying vEDS but clinical assessment will miss some cases. Wider genetic testing in some SCAD patients may be merited to enable appropriate management. Systematic review registration: https://www.crd.york.ac.uk/prospero/536751 Identifier: 536751.

文献信息
期刊
European journal of human genetics : EJHG
期刊简称
Eur J Hum Genet
ISSN
1476-5438
发表日期
2026-06-00
语言
英语
国家/地区
England
NLM ID
9302235
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