Early dilated cardiomyopathy and cardioembolic stroke as atypical initial manifestations of clinically suspected friedreich ataxia: a case report

Friedreich Ataxia (FRDA) is an autosomal recessive hereditary neurological disorder caused by the GAA trinucleotide expansion mutation within the frataxin (FXN) gene. It usually presents in children/adolescents as progressive ataxia; heart involvement usually occurs as hypertrophic cardiomyopathy. The patient is a 14-year-old male presenting with breathlessness, leg swelling, pain in the upper right part of abdomen and decreased urine output due to a previous diagnosis of dilated cardiomyopathy along with ischemic stroke. The phenotype of the patient includes dilated cardiomyopathy, formation of intracardiac clots, ischemic stroke and neurological-muscular symptoms including Pes Cavus, Scoliosis and Muscle Weakness. Clinical diagnosis of Friedreich Ataxia has been done based on the phenotype; FXN genetic testing was not available at our center, therefore, the diagnosis is clinically suspected (probable) rather than genetically confirmed. The current case report presents an interesting case of suspected FRDA which manifests with early dilated cardiomyopathy and stroke prior to the neurologic features. In the absence of genetic confirmation, we have made the diagnosis of FRDA tentatively, described the differential diagnoses, and advised that the disorder be entertained as a possible cause of cardiomyopathy and musculoskeletal manifestations in children.