Recent Advances on the Genetics of Spontaneous Coronary Artery Dissection

Abstract

Spontaneous coronary artery dissection (SCAD) has been acknowledged as a significant cause of acute myocardial infarction, predominantly in young to middle-aged women. SCAD often occurs in patients with fewer cardiovascular risk factors than atherosclerotic acute myocardial infarction. Unfortunately, SCAD remains underdiagnosed due to a lack of awareness among health care providers leading to misdiagnosis. The underlying pathophysiological mechanisms of SCAD are not well understood. SCAD occurring in members of the same family has been described, suggesting a potentially identifiable genetically triggered cause in at least some cases. However, thus far, the search for highly penetrant mutations in candidate pathways has had a low yield, often pointing to genes involved in other clinically undiagnosed hereditary syndromes manifesting as SCAD. Recent exploratory efforts using exome sequencing and genome-wide association studies have provided several interesting leads toward understanding the pathogenesis of SCAD. Here, we review recent publications where rare and common genetic factors were reported to associate with a predisposition to SCAD and indicate suggestions for the future strategies and approaches needed to fully address the genetic basis of this intriguing and atypical cause of acute myocardial infarction.

Keywords: acute coronary syndrome; cardiovascular diseases; genetics; mutation; myocardial infarction.