Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

ABSTRACT:

Background

Mutations in MYBPC3 encoding myosin binding protein C belong to the most frequent causes of hypertrophic cardiomyopathy (HCM) and may also lead to dilated cardiomyopathy (DCM). MYBPC3 mutations initially were considered to cause a benign form of HCM. The aim of this study was to examine the clinical outcome of patients and their relatives with 18 different MYBPC3 mutations.

Methods

87 patients with HCM and 71 patients with DCM were screened for MYBPC3 mutations by denaturing gradient gel electrophoresis and sequencing. Close relatives of mutation carriers were genotyped for the respective mutation. Relatives with mutation were then evaluated by echocardiography and magnetic resonance imaging. A detailed family history regarding adverse clinical events was recorded

SUBMITTER: Ehlermann P 

PROVIDER: S-EPMC2584029 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature