MARC details
| 000 -LEADER |
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| fixed length control field |
03338nam a22005057a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
220222s20222022 xxu||||| |||| 00| 0 eng d |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1002/ajmg.a.62661 [doi] |
| 040 ## - CATALOGING SOURCE |
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| Original cataloging agency |
Ovid MEDLINE(R) |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) |
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| PMID |
35092149 |
| 245 ## - TITLE STATEMENT |
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| Title |
Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility. |
| 251 ## - Source |
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| Source |
American Journal of Medical Genetics. Part A. 188(5):1448-1456, 2022 May. |
| 252 ## - Abbreviated Source |
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| Abbreviated source |
Am J Med Genet A. 188(5):1448-1456, 2022 May. |
| 252 ## - Abbreviated Source |
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| Former abbreviated source |
Am J Med Genet A. 2022 Jan 29 |
| 253 ## - Journal Name |
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| Journal name |
American journal of medical genetics. Part A |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Year |
2022 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Manufacturer |
FY2022 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Publication date |
2022 Jan 29 |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
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| Publication status |
ppublish |
| 266 ## - Date added to catalog |
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| Date added to catalog |
2022-02-22 |
| 268 ## - Previous citation |
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| -- |
American Journal of Medical Genetics. Part A. 2022 Jan 29 |
| 520 ## - SUMMARY, ETC. |
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| 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. Copyright (c) 2022 Wiley Periodicals LLC. |
| 546 ## - LANGUAGE NOTE |
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| Language note |
English |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Coronary Vessel Anomalies |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Ehlers-Danlos Syndrome |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Loeys-Dietz Syndrome |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Vascular Diseases |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Coronary Vessel Anomalies/ep [Epidemiology] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Coronary Vessel Anomalies/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Ehlers-Danlos Syndrome/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Genetic Predisposition to Disease |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Humans |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Loeys-Dietz Syndrome/co [Complications] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Loeys-Dietz Syndrome/ep [Epidemiology] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Loeys-Dietz Syndrome/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Risk Factors |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Vascular Diseases/cn [Congenital] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Vascular Diseases/ep [Epidemiology] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Vascular Diseases/ge [Genetics] |
| 651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME |
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| Institution |
MedStar Heart & Vascular Institute |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Journal Article |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Local Authors |
Asch, Federico M |
| 790 ## - Authors |
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| All authors |
Asch FM, Driscoll A, Eagle KA, Ganesh SK, GenTAC Investigators, Ghannam M, Hill HL, Hornsby W, McNamara J, Milewicz DM, Montalcino Aortic Consortium Investigators, Murad AM, Pugh NL, Regalado ES, Wang Y, Willer CJ, Yang ML |
| 856 ## - ELECTRONIC LOCATION AND ACCESS |
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| DOI |
<a href="https://dx.doi.org/10.1002/ajmg.a.62661">https://dx.doi.org/10.1002/ajmg.a.62661</a> |
| Public note |
https://dx.doi.org/10.1002/ajmg.a.62661 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Journal Article |
| Item type description |
Article |
