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00925njm 22002777a 4500 dc Lopes, Luis R author Garcia-Hernández, Soledad author Lorenzini, Massimiliano author Futema, Marta author Chumakova, Olga author Zateyshchikov, Dmitry author Isidoro-Garcia, Maria author Villacorta, Eduardo author Escobar-Lopez, Luis author Garcia-Pavia, Pablo author Bilbao, Raquel author Dobarro, David author Sandin-Fuentes, Maria author Catalli, Claudio author Gener Querol, Blanca author Mezcua, Ainhoa author Garcia Pinilla, Jose author Bloch Rasmussen, Torsten author Ferreira-Aguar, Ana author Revilla-Martí, Pablo author Basurte Elorz, Maria Teresa author Bautista Paves, Alicia author Ramon Gimeno, Juan author Figueroa, Ana Virginia author Franco-Gutierrez, Raul author Fuentes-Cañamero, Maria Eugenia author Martinez Moreno, Marina author Ortiz-Genga, Martin author Piqueras-Flores, Jesus author Analia Ramos, Karina author Rudzitis, Ainars author Ruiz-Guerrero, Luis author Stein, Ricardo author Triguero-Bocharán, Mayte author de la Higuera, Luis author Ochoa, Juan Pablo author Abu-Bonsrah, Dad author Kwok, Cecilia Y T author Smith, Jacob B author Porrello, Enzo R author Akhtar, Mohammed M author Jager, Joanna author Ashworth, Michael author Syrris, Petros author Elliott, David A author Monserrat, Lorenzo author Elliott, Perry M author 2021 The aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing in independent cohorts and family co-segregation studies. In a discovery cohort of 770 index patients with HCM, 12 (1.56%) were heterozygous for ALPK3tv [odds ratio(OR) 16.11, 95% confidence interval (CI) 7.94-30.02, P = 8.05e-11] compared to the Genome Aggregation Database (gnomAD) population. In a validation cohort of 2047 HCM probands, 32 (1.56%) carried heterozygous ALPK3tv (OR 16.17, 95% CI 10.31-24.87, P  Heterozygous ALPK3tv are pathogenic and segregate with a characteristic HCM phenotype. 10.1093/eurheartj/ehab424 1522-9645 European heart journal http://hdl.handle.net/10668/18201 34263907 http://hdl.handle.net/20.500.12105/18230 ALPK3 Genetics Hypertrophic cardiomyopathy Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.