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Spontaneous Coronary Artery Dissection: Less Is More!

ABSTRACT: Spontaneous coronary artery dissection (SCAD) is a rare cause of acute myocardial infarction (ACS). We report a case of acute coronary syndrome due to SCAD of the right coronary artery. Diagnosis was based on clinical presentation and coronary angiography, and confirmed by optical coherence tomography which guided our treatment strategy. (Level of Difficulty: Beginner.).

SUBMITTER: Saighi Bouaouina M

PROVIDER: S-EPMC8305066 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Spontaneous Coronary Artery Dissection: Less Is More!

Saighi Bouaouina Mehdi M Motreff Pascal P Boussaada Mohamed Mehdi MM Perdrix Christel C Benamer Hakim H

JACC. Case reports 20201216 15

Spontaneous coronary artery dissection (SCAD) is a rare cause of acute myocardial infarction (ACS). We report a case of acute coronary syndrome due to SCAD of the right coronary artery. Diagnosis was based on clinical presentation and coronary angiography, and confirmed by optical coherence tomography which guided our treatment strategy. (<b>Level of Difficulty: Beginner.</b>). ...[more]

PMID: 34317191

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Project description:ImportanceSpontaneous coronary artery dissection (SCAD) is an increasingly recognized nonatherosclerotic cause of acute myocardial infarction enriched among individuals with early-onset myocardial infarction but is of unclear etiology.ObjectiveTo assess which genes contribute to the development of SCAD.Design, setting, and participantsTo prioritize genes influencing risk for SCAD, whole-exome sequencing was performed among individuals with SCAD in the discovery and replication cohorts from a tertiary care hospital outpatient specialty clinic, and gene set enrichment analyses were also performed for disruptive coding variants. All patients were sequentially enrolled beginning July 2013. Aggregate prevalence of rare disruptive variants for prioritized gene sets was compared between individuals with SCAD with population-based controls comprising 46 468 UK Biobank participants with whole-exome sequencing. Complementary mice models were used for in vivo validation. Analysis took place between June 2020 and January 2021.Main outcomes and measuresThe frequency and identity of rare genetic variants in individuals with SCAD.ResultsOf 130 patients, 109 (83.8%) were female (26 of 32 [81.2%] in the discovery cohort and 83 of 98 [84.7%] in the replication cohort) with mean (SD) age at first SCAD event of 48.41 (8.76) years in the discovery cohort and 47.74 (10.09) years in the replication cohort. Across all patients with SCAD, rare disruptive variants were found within 10 collagen genes (COL3A1, COL5A1, COL4A1, COL6A1, COL5A2, COL12A1, COL4A5, COL1A1, COL1A2, and COL27A1) were 17-fold (P = 1.5 × 10-9) enriched among individuals with SCAD compared with a background of 2506 constrained genes expressed in coronary artery. Furthermore, compared with individuals from the UK Biobank, individuals with SCAD were 1.75-fold (P = .04) more likely to carry disruptive rare variants within fibrillar collagen genes. Complementary mice models haploinsufficient for Col3a1 or Col5a1, the 2 most common collagen gene variants identified in SCAD cases, demonstrated increased risk of arterial dissection and increased size of arterial diameters especially in female mice, with resulting changes in collagen fibril organization and diameter.Conclusions and relevanceUnbiased gene discovery in patients with SCAD with independent human and murine validation highlights the role of the extracellular matrix dysfunction in SCAD.

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Spontaneous Coronary Artery Dissection: Less Is More!

Publications

Spontaneous Coronary Artery Dissection: Less Is More!

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