Article
Age and Sex Differences in the Genetics of Cardiomyopathy.
Journal of cardiovascular translational research - 1 Dec 2023
Akinrinade Oyediran, Lesurf Robert, Lougheed Jane, Mondal Tapas, Smythe John, Altamirano-Diaz Luis, Oechslin Erwin, Mital Seema
Abstract excerpt
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...
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