Purpose of Review

Spontaneous coronary artery dissection (SCAD) is a significant cause of acute myocardial infarction that is increasingly recognized in young and middle-aged women. The etiology of SCAD is likely multifactorial and may include the interaction of environmental and individual factors. Here, we summarize the current understanding of the genetic factors contributing to the development of SCAD.

Recent Findings

The molecular findings underlying SCAD have been demonstrated to include a combination of rare DNA sequence variants with large effects, common variants contributing to a complex genetic architecture, and variants with intermediate impact. The genes associated with SCAD highlight the role of arterial cells and their extracellular matrix in the pathogenesis of the disease and shed light on the relationship between SCAD and other disorders, including fibromuscular dysplasia and connective tissue diseases.

Summary

While up to 10% of affected individuals may harbor a rare variant with large effect, SCAD most often presents as a complex genetic condition. Analyses of larger and more diverse cohorts will continue to improve our understanding of risk susceptibility loci and will also enable consideration of the clinical utility of genetic testing strategies in the management of SCAD.

中文翻译：

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自发性冠状动脉夹层的遗传学进展

审查目的

自发性冠状动脉夹层（SCAD）是急性心肌梗死的重要原因，在年轻和中年女性中越来越受到重视。SCAD 的病因可能是多因素的，可能包括环境因素和个体因素的相互作用。在此，我们总结了目前对 SCAD 发生的遗传因素的认识。

最近的发现

SCAD 的分子发现已被证明包括具有重大影响的罕见 DNA 序列变异、导致复杂遗传结构的常见变异以及具有中等影响的变异的组合。与 SCAD 相关的基因强调了动脉细胞及其细胞外基质在疾病发病机制中的作用，并揭示了 SCAD 与其他疾病（包括纤维肌性发育不良和结缔组织疾病）之间的关系。

概括

虽然多达 10% 的受影响个体可能携带具有重大影响的罕见变异，但 SCAD 最常表现为复杂的遗传状况。对更大、更多样化队列的分析将继续提高我们对风险易感性位点的理解，也将有助于考虑基因检测策略在 SCAD 管理中的临床效用。