2024
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
2020
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
Landim-Vieira M, Johnston JR, Ji W, Mis EK, Tijerino J, Spencer-Manzon M, Jeffries L, Hall EK, Panisello-Manterola D, Khokha MK, Deniz E, Chase PB, Lakhani SA, Pinto JR. Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants. Frontiers In Physiology 2020, 10: 1612. PMID: 32038292, PMCID: PMC6990120, DOI: 10.3389/fphys.2019.01612.Peer-Reviewed Original ResearchCardiac muscle preparationsIsometric forcePatient variantsEarly-onset DCMDilated Cardiomyopathy AssociatedCompound heterozygous variantsSteady-state isometric forceCardiomyopathy AssociatedContractile functionMuscle preparationsCardiomyopathy phenotypeHeterozygous variantsCardiac phenotypeMyofilament CaSarcomeric genesFurther studies
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply