Early onset development of hypertrophic cardiomyopathy in less than 1 year in a patient with familial Friedrich's ataxia: Case report

Friedreich's ataxia (FRDA) is a neurodegenerative disease characterized by progressive ataxia, dysarthria, sensory loss. While neurological symptoms are prominent, cardiac manifestations significantly contribute to mortality. Cardiomyopathy in Friedreich's disease results from mitochondrial dysfunction, loss of contractile proteins and an accumulation of fibrosis in heart. To better characterize the severity of cardiac involvement, the MICONOS study group developed a classification system categorizing FRDA cardiomyopathy as "no," "mild," "intermediate," "severe." We report an uncommon case of early-onset development of hypertrophic cardiomyopathy (HCM) in a 25-year-old female diagnosed with Friedreich's ataxia (FRDA) at age 12. Through annual cardiac evaluations, no signs of cardiac disease were noted. Until presenting with dyspnea and palpitations. Clinical examination revealed truncal ataxia and dysarthria, but no signs of heart failure. However, a transthoracic echocardiography demonstrated nonobstructive hypertrophic cardiomyopathy with a maximal wall thickness of 20 mm, incomplete anterior systolic motion of the mitral valve, a significant development in less than 1 year after last normal cardiac assessment. Left ventricular systolic function was preserved (ejection fraction 50%). She was prescribed bisoprolol and dapagliflozin, with significant improvement at her latest checkup. Family screening revealed HCM in her 30 year female sibling, who also has FRDA. No cardiac abnormalities were detected in her younger brother or parents. Friedreich's hypertrophic cardiomyopathy has been reported as the most significant cause of mortality, especially among younger patients with early onset disease manifestations.