s Cardiology 11 OC-005 Hypertrophic Cardiomyopathy in Iceland: MYBPC3 Founder Mutation Adalsteinsdottir B.*1, Teekakirkul P.2, Maron B.J.3, Gudbjartsson D.F.4, Holm H.4, Danielsen R.1, Seidman J.G.2, Seidman C.S.2, Gunnarsson G.T.5 1The National University Hospital of Iceland, Iceland; 2Harvard Medical School, United States; 3Minneapolis Heart Institute Foundation, United States; 4Decode Geneti...

Principal Findings The authors identified mutations in almost half of children without a positive family history of cardiomyopathy (25 of 51 affected children) and in two thirds (21 of 33) of affected children with familial cardiomyopathy. Mutations in MYH7 (encoding -myosin heavy chain) and MYBPC3 (encoding myosin-binding protein C) were the most frequent variants identified in the children. I...

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%)...

Principal Findings The authors identified mutations in almost half of children without a positive family history of cardiomyopathy (25 of 51 affected children) and in two thirds (21 of 33) of affected children with familial cardiomyopathy. Mutations in MYH7 (encoding -myosin heavy chain) and MYBPC3 (encoding myosin-binding protein C) were the most frequent variants identified in the children. I...

Hypertrophic cardiomyopathy (HCM), one of the most common forms of myocardial diseases, is the major cause of sudden cardiac death in young adults and competitive athletes. Analyses of gene mutations associated with HCM are valuable for its molecular diagnosis, genetic counseling, and management of familial HCM. To dissect the relationship between the clinical presentation and gene mutations of...

AIMS We investigated the presence of a clinical diagnosis of hypertrophic cardiomyopathy (HCM) and of risk factors for sudden cardiac death (SCD) at the first cardiological evaluation after predictive genetic testing in asymptomatic carriers of an MYBPC3 gene mutation. METHODS AND RESULTS Two hundred and thirty-five mutation carriers were cardiologically evaluated on the presence of HCM and r...

BACKGROUND Available data suggests that double mutations in patients with hypertrophic cardiomyopathy are not rare and are associated with a more severe phenotype. Most of this data, however, is based on noncontemporary variant classification. METHODS AND RESULTS Clinical data of all hypertrophic cardiomyopathy patients with 2 rare genetic variants were retrospectively reviewed and compared w...