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Aim: Hypertrophic cardiomyopathy (HCM) exhibits genetic heterogeneity that is dominated by variation in eight sarcomeric genes. Genetic variation in a large number of non-sarcomeric genes has also been implicated in HCM but not formally assessed. Here we used very large case and control cohorts to determine the extent to which variation in non-sarcomeric genes contributes to HCM. Methods and results: We sequenced known and putative HCM genes in a new large prospective HCM cohort (n = 804) and analysed data alongside the largest published series of clinically genotyped HCM patients (n = 6179), previously published HCM cohorts and reference population samples from the exome aggregation consortium (ExAC, n = 60 706) to assess variation in 31 genes implicated in HCM. We found no significant excess of rare (minor allele frequency 

Original publication




Journal article


Eur Heart J

Publication Date





3461 - 3468


ExAC, HCM genetics, Hypertrophic cardiomyopathy, Mendelian genetics, Rare genetic variation, Cardiomyopathy, Hypertrophic, Case-Control Studies, Female, Genes, Genetic Variation, Humans, Male, Mutation, Prospective Studies, Sarcomeres