Publication Date
8-1-2023
Journal
Circulation: Genomic and Precision Medicine
DOI
10.1161/CIRCGEN.122.003912
PMID
37395136
PMCID
PMC10528350
PubMedCentral® Posted Date
8-1-2024
PubMedCentral® Full Text Version
Author MSS
Published Open-Access
yes
Keywords
Multicenter Studies as Topic, Male, Transcription Factors, Mice, Knockout, Female, Chromosomes, Human, Pair 1, Humans, DNA-Binding Proteins, Cardiomyopathies, Mice, Chromosome Deletion, Retrospective Studies, Chromosome Disorders, Animals, Fibrosis
Abstract
BACKGROUND: 1p36 deletion syndrome can predispose to pediatric-onset cardiomyopathy. Deletion breakpoints are variable and may delete the transcription factor
METHODS: This retrospective cohort included subjects with 1p36 deletion syndrome from 4 hospitals. Prevalence of cardiomyopathy and freedom from death, cardiac transplantation, or ventricular assist device were analyzed. A systematic review cohort was derived for further analysis. A cardiac-specific
RESULTS: The retrospective cohort included 71 patients. Among individuals with
CONCLUSIONS:
Included in
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