Unraveling the Genetic Complexity: A Case Report of MYLK Gene Mutation in a Patient with SCAD

Abstract

Spontaneous Coronary Artery Dissection (SCAD) is a rare and potentially fatal disorder characterized by a tear in the wall of a coronary artery, leading to reduced blood flow to the heart. Although its exact cause remains elusive, SCAD is often associated with fibromuscular dysplasia and other connective tissue disorders. Here, we present a case of a 34-year-old African-American male with SCAD, hypertension, and obesity, whose family history included myocardial infarction, hypertension, and diabetes mellitus. Extensive imaging and cardiovascular evaluation revealed severe stenosis in the left anterior descending artery and a dissection flap in the left main coronary artery. Further genetic testing identified a variant of uncertain significance (VUS) in the MYLK gene, which has been linked to aortic dissections. While MYLK gene mutations have been reported in some SCAD and thoracic aortic aneurysm and dissection (TAAD) patients, they appear to be relatively rare. This case underscores the potential genetic basis of SCAD and highlights the importance of continued research to understand the role of MYLK gene mutations in SCAD and TAAD pathogenesis. Further investigation is warranted to determine the significance of the VUS identified in this patient