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Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite

Andrea M Murad1, Hannah L Hill2,3, Yu Wang2,3

  • 1Division of Genetic Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.

American Journal of Medical Genetics. Part A
|January 29, 2022
PubMed

Insights

Spontaneous coronary artery dissection (SCAD) is rare in thoracic aortic disease (TAD) patients, affecting 0.15%. Genetic variants linked to connective tissue disorders were found in SCAD patients with TAD, suggesting a potential genetic link.

Area of Science:

  • Cardiology
  • Genetics
  • Vascular Biology

Background:

  • Spontaneous coronary artery dissection (SCAD) can cause myocardial infarction and sudden death, with unclear etiology.
  • Mendelian vascular and connective tissue disorders are implicated in thoracic aortic disease (TAD) and have been reported in a small percentage of SCAD patients.

Purpose of the Study:

  • To investigate the hypothesis that patients with thoracic aortic disease (TAD) have an elevated risk for spontaneous coronary artery dissection (SCAD).

Main Methods:

  • A registry-based study was conducted, querying databases of patients with diagnosed TAD.
  • The incidence of SCAD was determined within this cohort.
  • Genetic sequencing was performed on SCAD patients identified within the TAD registry.

Main Results:

  • Out of 7568 individuals with TAD, 11 (0.15%) were diagnosed with SCAD.
  • Pathogenic variants in genes such as COL3A1, FBN1, TGFBR2, TGFBR1, and PRKG1 were identified in 9 of the 11 SCAD patients.
  • Individuals with SCAD exhibited a higher frequency of iliac artery dissection compared to those without SCAD.

Conclusions:

  • The prevalence of SCAD among individuals with TAD is low.
  • The identified pathogenic variants in genes associated with connective tissue disorders align with previous findings in SCAD cohorts.
  • Further research is necessary to elucidate the specific genetic factors contributing to SCAD risk.

Keywords:
arterial diseasefamilial thoracic aortic aneurysm and dissectiongenetic susceptibilityspontaneous coronary artery dissection

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