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Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility
dc.contributor.authorMurad, Andrea M.
dc.contributor.authorHill, Hannah L.
dc.contributor.authorWang, Yu
dc.contributor.authorGhannam, Michael
dc.contributor.authorYang, Min-Lee
dc.contributor.authorPugh, Norma L.
dc.contributor.authorAsch, Federico M.
dc.contributor.authorHornsby, Whitney
dc.contributor.authorDriscoll, Anisa
dc.contributor.authorMcNamara, Jennifer
dc.contributor.authorWiller, Cristen J.
dc.contributor.authorRegalado, Ellen S.
dc.contributor.authorMilewicz, Dianna M.
dc.contributor.authorEagle, Kim A.
dc.contributor.authorGanesh, Santhi K.
dc.date.accessioned2022-05-06T17:28:22Z
dc.date.available2023-06-06 13:28:21en
dc.date.available2022-05-06T17:28:22Z
dc.date.issued2022-05
dc.identifier.citationMurad, Andrea M.; Hill, Hannah L.; Wang, Yu; Ghannam, Michael; Yang, Min-Lee ; 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. (2022). "Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility." American Journal of Medical Genetics Part A 188(5): 1448-1456.
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.urihttps://hdl.handle.net/2027.42/172312
dc.description.abstractSpontaneous 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.
dc.publisherJohn Wiley & Sons, Inc.
dc.subject.otherspontaneous coronary artery dissection
dc.subject.otherarterial disease
dc.subject.otherfamilial thoracic aortic aneurysm and dissection
dc.subject.othergenetic susceptibility
dc.titleSpontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelHuman Genetics
dc.subject.hlbsecondlevelGenetics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/172312/1/ajmga62661_am.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/172312/2/ajmga62661.pdf
dc.identifier.doi10.1002/ajmg.a.62661
dc.identifier.sourceAmerican Journal of Medical Genetics Part A
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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