Identification of a mutation in the β cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy

Objective - To investigate the molecular genetic basis of the cause of disease in a family with hypertrophic cardiomyopathy. Background - Mutation within the β cardiac myosin heavy chain gene has been shown to be the pathogenetic mechanism underlying the disease in several families, though clear evidence of heterogeneity has been reported. Patients - A family with a history of hypertrophic cardiomyopathy. Results and conclusion - This paper reports a mutation at amino acid position 908 within exon 23 of the β cardiac myosin heavy chain gene, resulting in a conversion of a leucine to valine. This base substitution was identified in an individual with a confirmed family history but with equivocal symptoms of the disease. Inheritance of the mutation by his symptom free juvenile offspring demonstrates the application of the technique to presymptomatic diagnosis.