Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection

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Abstract
Spontaneous coronary artery dissection (SCAD) is a nonatherosclerotic cause of acute myocardial infarction (MI) frequently affecting young women.1-6 Up to 35% of women younger than 50 years presenting with MI may be due to SCAD.4,7,8 Other risk factors include fibromuscular dysplasia, pregnancy,9 and excessive emotional and/or physical stress.10 Imaging often identifies aneurysms, dissections, or luminal abnormalities in other arterial territories, suggesting a background of systemic arteriopathy. However, well-established genetically triggered arteriopathies are not the predominant cause of SCAD and familial cases are extremely rare,11-16 prompting further exploration to define the genetic architecture of SCAD. In this study, we perform prospective exome sequencing in a group of patients with SCAD, filtering variants to high confidence putative disruptive alleles in coronary artery–expressed genes and demonstrate enrichment within collagen genes of the extracellular matrix.

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