@article{3adfdbae296542c790cc513bc8a8304f,
title = "Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility",
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.",
keywords = "arterial disease, familial thoracic aortic aneurysm and dissection, genetic susceptibility, spontaneous coronary artery dissection",
author = "Murad, {Andrea M.} and Hill, {Hannah L.} and Yu Wang and Michael Ghannam and Min-Lee Yang and Pugh, {Norma L.} and Asch, {Federico M.} and Whitney Hornsby and Anisa Driscoll and Jennifer McNamara and Willer, {Cristen J.} and {GenTAC Investigators} and Regalado, {Ellen S.} and Milewicz, {Dianna M.} and Eagle, {Kim A.} and Ganesh, {Santhi K.} and {Montalcino Aortic Consortium Investigators} and Barbara Kroner and Richard Devereux and William Ravekes and Pyeritz, {Reed E.} and LeMaire, {Scott A.} and Maslen, {Cheryl L.} and Ralph Shohet and Jennifer Habashi and Backer, {Julie d.} and Catherine Boileau and Guillaume Jondeau and Alan Braverman and Arturo Evangalista and Morris, {Shaine A.} and Maral Ouzounian and Anji Yetman and Lesley Ades and Eloisa Arbustini and Nanette Alvarez and Child, {Anne H.} and Bo Carlberg and Ismail el-Hamamsy and David Chitayat and Paepe, {Anne d.} and Bridget Fernandez and Josephine Grima and Maarten Groenink and Gabrielle Horne and Richmond Jeremy and {von Kodolitsch}, Yskert and Ronald Lacro and Levin, {Alex V.} and David Liang and Irene Maumenee and Vivienne McConnell",
note = "Funding Information: The GenTAC Registry was supported by the US Federal Government contracts HHSN268200648199C and HHSN268201000048C from the National Heart Lung and Blood Institute and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (Bethesda, MD). Subject enrollment and sample collection for the University of Michigan Health System CHIP biorepository was supported by the Frankel Cardiovascular Center. Study efforts were further supported by the Frankel Cardiovascular Center M-BRISC program, University of Michigan Taubman Institute, and National Heart, Lung, And Blood Institute of the National Institutes of Health under Award Numbers HL139672 / HL161016 (PI SKG) and HL109942 (PI DMM). The Montalcino Aortic Consortium is supported by Genetic Aortic Disorder Association Canada, Temerty Family Foundation, and John Ritter Foundation. Publisher Copyright: {\textcopyright} 2022 Wiley Periodicals LLC.",
year = "2022",
month = may,
doi = "https://doi.org/10.1002/ajmg.a.62661",
language = "English",
volume = "188",
pages = "1448--1456",
journal = "American journal of medical genetics. Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "5",
}