Journal article
Age and Sex Differences in the Genetics of Cardiomyopathy
Abstract
Cardiomyopathy has variable penetrance. We analyzed age and sex-related genetic differences in 1,397 cardiomyopathy patients (Ontario, UK) with whole genome sequencing. Pediatric cases (n = 471) harbored more deleterious protein-coding variants in Tier 1 cardiomyopathy genes compared to adults (n = 926) (34.6% vs 25.9% respectively, p = 0.0015), with variant enrichment in constrained coding regions. Pediatric patients had a higher burden of …
Authors
Akinrinade O; Lesurf R; Lougheed J; Mondal T; Smythe J; Altamirano-Diaz L; Oechslin E; Mital S
Journal
Journal of Cardiovascular Translational Research, Vol. 16, No. 6, pp. 1287–1302
Publisher
Springer Nature
Publication Date
12 2023
DOI
10.1007/s12265-023-10411-8
ISSN
1937-5387