Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study. (Record no. 13525)

MARC details
000 -LEADER
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.
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Abstract CLINICALTRIALS: gov; Unique identifier: NCT03037632.
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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.
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Abstract REGISTRATION: URL: https://www.
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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]
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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
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Department Plastic Surgery Residency
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Medline publication type Clinical Study
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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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