Hypertrophic cardiomyopathy in Friedreichʹs ataxia

Friedreichʹs ataxia is an autosomal recessive disorder characterized by spinocerebellar degeneration. It is caused by a mutation that consists of an unstable expansion of GAA repeats in the first intron of the gene encoding frataxin on chromosome 9 (9q13). We reported a case of hypertrophic cardiomyopathy associated with Friedreichʹs ataxia in a twenty year old patient.