TY  - BOOK
AU  - Asch, Federico M
TI  - Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility
PY  - 2022///
KW  - *Coronary Vessel Anomalies
KW  - *Ehlers-Danlos Syndrome
KW  - *Loeys-Dietz Syndrome
KW  - *Vascular Diseases
KW  - Coronary Vessel Anomalies/ep [Epidemiology]
KW  - Coronary Vessel Anomalies/ge [Genetics]
KW  - Ehlers-Danlos Syndrome/ge [Genetics]
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Loeys-Dietz Syndrome/co [Complications]
KW  - Loeys-Dietz Syndrome/ep [Epidemiology]
KW  - Loeys-Dietz Syndrome/ge [Genetics]
KW  - Risk Factors
KW  - Vascular Diseases/cn [Congenital]
KW  - Vascular Diseases/ep [Epidemiology]
KW  - Vascular Diseases/ge [Genetics]
KW  - MedStar Heart & Vascular Institute
KW  - Journal Article
N2  - 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. Copyright (c) 2022 Wiley Periodicals LLC
UR  - https://dx.doi.org/10.1002/ajmg.a.62661
ER  -