Key result
Genetic testing for hypertrophic cardiomyopathy identified mutations in 29.2% of probands above 1 year of age and 15.4% of infants, with 42.5% of the 120 identified mutations being novel.
Why the study?
What is the mutation detection rate and spectrum of mutations in Norwegian probands with hypertrophic cardiomyopathy?
Observational (n=722)
What is the mutation detection rate and spectrum of mutations in Norwegian probands with hypertrophic cardiomyopathy?
Genetic testing in Norwegian HCM probands reveals a mutation in 29.2% of patients over 1 year of age, with a high proportion of novel mutations and younger age of onset in double mutation carriers.
Supports age-stratified testing in HCM probands; leaves open generalizability and clinical impact of novel variants.
Genetic testing for hypertrophic cardiomyopathy (HCM) became available in Norway in 2003. Here, we describe the results of this testing in probands with HCM referred until the end of 2012. The translated exons of MYBPC3, MYH7, TNNI3, TNNT2, MYL2 and MYL3 were analyzed in two groups of probands. In Group 1, comprising 696 probands above 1 year of age, a mutation was found in 203 patients (29.2%). Of those, 5.9% were carriers of two mutations. Mean age in double mutation carriers, single mutation carriers and mutation negative probands was 44 years (± 19 years), 50 years (± 5 years) and 55 years (± 6 years), respectively. In Group 2, comprising 26 infants below the age of 1, a mutation was found in 15.4%. A total of 120 different mutations were found of which 51 (42.5%) were novel.
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Berge et al. (2013) conducted an observational in Hypertrophic cardiomyopathy (n=722). Genetic testing was evaluated on Mutation detection. Genetic testing for hypertrophic cardiomyopathy identified mutations in 29.2% of probands above 1 year of age and 15.4% of infants, with 42.5% of the 120 identified mutations being novel.
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