Genetics of hypertrophic cardiomyopathy in Norway

Authors

  • K.E. Berge,

    Corresponding author
    1. Department of Medical Genetics, Oslo University Hospital Ullevaal, Oslo, Norway
    • Corresponding author: Knut Erik Berge, Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Ullevaal, Nydalen, NO-0424 Oslo, Norway.

      Tel.: +47 23026388;

      fax: +47 22118699;

      e-mail: knut.erik.berge@OUS-hf.no [PO BOX 4956]

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  • T.P. Leren

    1. Department of Medical Genetics, Oslo University Hospital Ullevaal, Oslo, Norway
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  • There are no conflicts of interest.

Abstract

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 (±15 years) and 55 years (±16 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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