Saha S, Jha A, Yadaw M, Tiwari B. Hypertrophic cardiomyopathy with ataxic gait: a cardiac clue to a neurologic diagnosis. BMJ Case Rep. 2025 Aug 4;18(8):e265662. doi: 10.1136/bcr-2025-265662. PMID: 40759502.
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.
Hypertrophic cardiomyopathy with ataxic gait: a cardiac clue to a neurologic diagnosis