Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy
Meisner J, Renberg A, Smith E, Tsan Y, Elder B, Bullard A, Merritt O, Zheng S, Lakdawala N, Owens A, Ryan T, Miller E, Rossano J, Lin K, Claggett B, Ashley E, Michels M, Lampert R, Stendahl J, Abrams D, Semsarian C, Parikh V, Wheeler M, Ingles J, Olivotto I, Day S, Saberi S, Russell M, Previs M, Ho C, Ware J, Helms A. Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy. Circulation 2024, 151: 783-798. PMID: 39633578, PMCID: PMC11913586, DOI: 10.1161/circulationaha.124.069398.Peer-Reviewed Original ResearchPathogenic sarcomeric variantsOvert hypertrophic cardiomyopathySarcomere variantsHypertrophic cardiomyopathyGeneral populationSarcomeric genesCardiac magnetic resonance imaging analysisSarcomeric Human Cardiomyopathy RegistryInduced pluripotent stem cell-derived cardiomyocytesPluripotent stem cell-derived cardiomyocytesStem cell-derived cardiomyocytesAssociated with disease severityDisease severityCardiac magnetic resonance imaging dataCell-derived cardiomyocytesMagnetic Resonance Imaging AnalysisMild hypertrophic cardiomyopathyIncreased disease severityCardiomyopathy RegistryDisease riskClinical outcomesAdverse eventsSignificant additive effectsEffect sizePolygenic contribution
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