alexa Clinical Implication of Genetic Testing for Hypertrophic Cardiomyopathy

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Clinical Implication of Genetic Testing for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) with left ventricular hypertrophy of unknown cause accounts for approximately one third of sudden cardiac deaths in young athletes [1]. We believe that sudden death in young people due to this disease could be reduced if a system were to be established to genetically test patients and blood relatives to make diagnosis prior to the onset of symptoms. Hypertrophic cardiomyopathy is caused by a dominant mutation of the sarcomere protein gene in approximately 60% of cases [2]. At present there have been over 1,000 different types of gene mutations reported. In Japan the comprehensive sequencing of the sarcomere protein gene excluding titin has been analyzed in patients with HCM, revealing a high incidence of MTBPC3, MTH7 and TNNT2.

 

Citation: Komamura K (2013) Clinical Implication of Genetic Testing for Hypertrophic Cardiomyopathy. Human Genet Embryol 3:114

 
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