4.2 Article

Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility

Journal

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 188, Issue 5, Pages 1448-1456

Publisher

WILEY
DOI: 10.1002/ajmg.a.62661

Keywords

arterial disease; familial thoracic aortic aneurysm and dissection; genetic susceptibility; spontaneous coronary artery dissection

Funding

  1. Frankel Cardiovascular Center
  2. John Ritter Foundation
  3. NHLBI [R01 HL109942, R01 HL139672]
  4. University of Michigan Taubman Institute
  5. US Federal Government Contracts from National Heart Lung and Blood Institute and National Institute of Arthritis and Musculoskeletal and Skin Diseases [HHSN268200648199C, HHSN268201000048C]
  6. Temerty Family Foundation
  7. Genetic Aortic Disorder Association of Canada

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Spontaneous coronary artery dissection (SCAD) is a potential cause of myocardial infarction and sudden death, and it is related to genetic vascular and connective tissue disorders (TAD). The prevalence of SCAD is low in TAD patients, but the identified pathogenic gene variants are consistent with prior clinical reports on SCAD.
Spontaneous coronary artery dissection (SCAD) is a potential precipitant of myocardial infarction and sudden death for which the etiology is poorly understood. Mendelian vascular and connective tissue disorders underlying thoracic aortic disease (TAD), have been reported in similar to 5% of individuals with SCAD. We therefore hypothesized that patients with TAD are at elevated risk for SCAD. We queried registries enrolling patients with TAD to define the incidence of SCAD. Of 7568 individuals enrolled, 11 (0.15%) were found to have SCAD. Of the sequenced cases (9/11), pathogenic variants were identified (N = 9), including COL3A1 (N = 3), FBN1 (N = 2), TGFBR2 (N = 2), TGFBR1 (N = 1), and PRKG1 (N = 1). Individuals with SCAD had an increased frequency of iliac artery dissection (25.0% vs. 5.1%, p = 0.047). The prevalence of SCAD among individuals with TAD is low. The identification of pathogenic variants in genes previously described in individuals with SCAD, particularly those underlying vascular Ehlers-Danlos, Marfan syndrome, and Loeys-Dietz syndrome, is consistent with prior reports from clinical SCAD series. Further research is needed to identify specific genetic influences on SCAD risk.

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