A Case Report of Cardiomyopathy in Friedreichʹʹs Ataxia and Literature Review

Introduction: Friedreichʹs ataxia is an autosomal recessive multisystem disease that leads to a mitochondrial dysfunction affecting nerve tissue and heart muscle. According to previous studies, cardiac dysfunction, predisposing to congestive heart failure and supraventricular arrhythmias, is the most frequent cause of death. Case presentation: We describe an 18-year-old female who presented with progressive weakness, vertigo, and loss of lower limb muscle force of one yearʹs duration. The patient had occasional respiratory distress of 6 monthsʹ duration, which was exacerbated with activity and improved with rest. She also had atypical chest pain. Given the patientʹs neurological findings, familial history of neurodegenerative disease, type 1 diabetes mellitus and cardiac involvement, and echocardiography, Friedreichʹs ataxia diagnosis was suggested and confirmed by the neurologist. Conclusion: Friedreichʹs ataxia is an autosomal recessive, spinocerebellar, degenerative disease characterized clinically by the ataxia of the limbs and trunk, dysarthria, loss of deep tendon reflexes, sensory abnormalities, skeletal deformities, diabetes mellitus, and cardiac involvement[1]. Friedreichʹs ataxia is generally associated with concentric hypertrophic cardiomyopathy. Cardiac death occurs primarily in those developing dilated cardiomyopathy[2]. These patients tend to do poorly with rapid progression to end-stage congestive heart failure [3]