Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI ( MYO6 )

Abstract excerpt

Familial hypertrophic cardiomyopathy (FHC) is typically characterised by left ventricular hypertrophy, diastolic dysfunction, and hypercontractility, and is often associated with disabling symptoms, arrhythmias, and sudden death.1 FHC shows both non-allelic and allelic genetic heterogeneity, and results from any one of more than 100 mutations in genes encoding sarcomeric proteins.2 Identified genes include those...

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