Hypertrophic cardiomyopathy with ataxic gait: a cardiac clue to a neurologic diagnosis

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiac myocyte disease characterised by left ventricular hypertrophy that develops in the absence of causative haemodynamic factors. In addition to mutations in sarcomeric genes, which are the most significant cause of HCM in adults and children, paediatric HCM also exhibits a high prevalence of non-sarcomeric causes. These include inherited metabolic disorders, malformation syndromes, neuromuscular diseases and mitochondrial diseases collectively accounting for about 35% of cases. In this case report, we describe a case of non-sarcomeric paediatric HCM associated with mitochondrial disorder (Friedreich’s ataxia). Friedreich’s ataxia is a neurodegenerative disorder caused by a homozygous GAA triplet repeat expansion in the Frataxin gene. Symptoms include progressive ataxia, dysarthria, peripheral neuropathy and diabetes mellitus. Cardiovascular involvement, often presenting as HCM, emerges during adolescence and affects nearly two-thirds of patients. This case also highlights the importance of genetic analysis in paediatric cardiomyopathies.