Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study. (Record no. 13525)
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fixed length control field | 05004nam a22007217a 4500 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 232233s20232023 xxu||||| |||| 00| 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 0009-7322 |
024 ## - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1161/CIRCULATIONAHA.123.064847 [doi] |
024 ## - OTHER STANDARD IDENTIFIER | |
Standard number or code | NIHMS1923894 [mid] |
024 ## - OTHER STANDARD IDENTIFIER | |
Standard number or code | PMC10530109 [pmc] |
040 ## - CATALOGING SOURCE | |
Original cataloging agency | Ovid MEDLINE(R) |
099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
PMID | 37641966 |
245 ## - TITLE STATEMENT | |
Title | Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study. |
251 ## - Source | |
Source | Circulation. 148(11):872-881, 2023 09 12. |
252 ## - Abbreviated Source | |
Abbreviated source | Circulation. 148(11):872-881, 2023 09 12. |
253 ## - Journal Name | |
Journal name | Circulation |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Year | 2023 |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Manufacturer | FY2024 |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Publication date | 2023 09 12 |
265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] | |
Publication status | ppublish |
265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] | |
Medline status | MEDLINE |
266 ## - Date added to catalog | |
Date added to catalog | 2023-11-22 |
520 ## - SUMMARY, ETC. | |
Abstract | BACKGROUND: Dilated cardiomyopathy (DCM) can lead to advanced disease, defined herein as necessitating a durable left ventricular assist device or a heart transplant (LVAD/HT). DCM is known to have a genetic basis, but the association of rare variant genetics with advanced DCM has not been studied. |
520 ## - SUMMARY, ETC. | |
Abstract | CLINICALTRIALS: gov; Unique identifier: NCT03037632. |
520 ## - SUMMARY, ETC. | |
Abstract | CONCLUSIONS: Advanced DCM was associated with higher odds of rare variants in DCM genes adjudicated as pathogenic or likely pathogenic, compared with individuals with less severe DCM. This finding may help assess the risk of outcomes in management of patients with DCM and their at-risk family members. |
520 ## - SUMMARY, ETC. | |
Abstract | METHODS: We analyzed clinical and genetic sequence data from patients enrolled between 2016 and 2021 in the US multisite DCM Precision Medicine Study, which was a geographically diverse, multiracial, multiethnic cohort. Clinical evaluation included standardized patient interview and medical record query forms. DCM severity was classified into 3 groups: patients with advanced disease with LVAD/HT; patients with an implantable cardioverter defibrillator (ICD) only; or patients with no ICD or LVAD/HT. Rare variants in 36 DCM genes were classified as pathogenic or likely pathogenic or variants of uncertain significance. Confounding factors we considered included demographic characteristics, lifestyle factors, access to care, DCM duration, and comorbidities. Crude and adjusted associations between DCM severity and rare variant genetic findings were assessed using multinomial models with generalized logit link. |
520 ## - SUMMARY, ETC. | |
Abstract | REGISTRATION: URL: https://www. |
520 ## - SUMMARY, ETC. | |
Abstract | RESULTS: Patients' mean (SD) age was 51.9 (13.6) years; 42% were of African ancestry, 56% were of European ancestry, and 44% were female. Of 1198 patients, 347 had LVAD/HT, 511 had an ICD, and 340 had no LVAD/HT or ICD. The percentage of patients with pathogenic or likely pathogenic variants was 26.2%, 15.9%, and 15.0% for those with LVAD/HT, ICD only, or neither, respectively. After controlling for sociodemographic characteristics and comorbidities, patients with DCM with LVAD/HT were more likely than those without LVAD/HT or ICD to have DCM-related pathogenic or likely pathogenic rare variants (odds ratio, 2.3 [95% CI, 1.5-3.6]). The association did not differ by ancestry. Rare variant genetic findings were similar between patients with DCM with an ICD and those without LVAD/HT or ICD. |
546 ## - LANGUAGE NOTE | |
Language note | English |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | *Cardiomyopathy, Dilated |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | *Precision Medicine |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Adult |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Aged |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Black or African American |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Black People |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cardiomyopathy, Dilated/eh [Ethnology] |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cardiomyopathy, Dilated/ep [Epidemiology] |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cardiomyopathy, Dilated/ge [Genetics] |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cardiomyopathy, Dilated/th [Therapy] |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Defibrillators, Implantable |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Drug Evaluation |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Female |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Humans |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Male |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Middle Aged |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | United States/ep [Epidemiology] |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | White |
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Indexing | Curated |
651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME | |
Institution | MedStar Heart & Vascular Institute |
656 ## - INDEX TERM--OCCUPATION | |
Department | MedStar Georgetown University Hospital/MedStar Washington Hospital Center |
656 ## - INDEX TERM--OCCUPATION | |
Department | Plastic Surgery Residency |
657 ## - INDEX TERM--FUNCTION | |
Medline publication type | Clinical Study |
657 ## - INDEX TERM--FUNCTION | |
Medline publication type | Journal Article |
657 ## - INDEX TERM--FUNCTION | |
Medline publication type | Multicenter Study |
657 ## - INDEX TERM--FUNCTION | |
Medline publication type | Research Support, N.I.H., Extramural |
657 ## - INDEX TERM--FUNCTION | |
Medline publication type | Research Support, Non-U.S. Gov't |
700 ## - ADDED ENTRY--PERSONAL NAME | |
Local Authors | Hofmeyer, Mark |
Institution Code | MHVI |
700 ## - ADDED ENTRY--PERSONAL NAME | |
Local Authors | Wang, Jessica |
Institution Code | MGUH |
Program | Plastic Surgery Residency |
Degree | MD |
790 ## - Authors | |
All authors | Hofmeyer M, Haas GJ, Jordan E, Cao J, Kransdorf E, Ewald GA, Morris AA, Owens A, Lowes B, Stoller D, Wilson Tang WH, Garg S, Trachtenberg BH, Shah P, Pamboukian SV, Sweitzer NK, Wheeler MT, Wilcox JE, Katz S, Pan S, Jimenez J, Smart F, Wang J, Gottlieb SS, Judge DP, Moore CK, Huggins GS, Kinnamon DD, Ni H, Hershberger RE |
856 ## - ELECTRONIC LOCATION AND ACCESS | |
DOI | <a href="https://dx.doi.org/10.1161/CIRCULATIONAHA.123.064847">https://dx.doi.org/10.1161/CIRCULATIONAHA.123.064847</a> |
Public note | https://dx.doi.org/10.1161/CIRCULATIONAHA.123.064847 |
858 ## - ORCID | |
ORCID text | Wang, Jessica |
Orcid | <a href="https://orcid.org/0000-0001-7348-0509">https://orcid.org/0000-0001-7348-0509</a> |
Name | https://orcid.org/0000-0001-7348-0509 |
942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
Koha item type | Journal Article |
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No items available.