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Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility
Author(s) -
Murad Andrea M.,
Hill Hannah L.,
Wang Yu,
Ghannam Michael,
Yang MinLee,
Pugh Norma L.,
Asch Federico M.,
Hornsby Whitney,
Driscoll Anisa,
McNamara Jennifer,
Willer Cristen J.,
Regalado Ellen S.,
Milewicz Dianna M.,
Eagle Kim A.,
Ganesh Santhi K.
Publication year - 2022
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62661
Subject(s) - scad , medicine , marfan syndrome , etiology , cardiology , aortic dissection , myocardial infarction , coronary artery disease , incidence (geometry) , dissection (medical) , disease , aorta , surgery , physics , optics
Abstract 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 ~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.