Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the beta-myosin heavy chain gene and cardiac arrest in childhood. A case report and family study.

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a myocardial disease with variable phenotpye and genotype. To demonstrate that the mutation Arg719Trp in the cardiac beta-myosin heavy chain (beta MHC) gene is a high risk factor for sudden death and can be associated with an unusual apical non-obstructive HCM, we report the case of a 6 1/2 year old boy, who suffered cardiac arrest. The proband had a de novo mutation of the...

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