The cardiomyopathy of Friedreich's ataxia common in a family: A case report

Abstract Introduction and importance Friedreich's Ataxia is an autosomal recessive disease and is usually associated with arterial dysfunction, muscle weakness, spasm in the lower extremities, scoliosis, bladder dysfunction, lack of reflexes in the lower extremities, and imbalance. Approximately 2.3 people have cardiomyopathy. In this article, we have reviewed a case of Friedreich's Ataxia with hypertrophic cardiomyopathy. Case presentation A 19-year-old woman with Friedreich's Ataxia has been protesting since she was 11 years old and complained of chest pains, dyspnea, and heart palpitations without a medical history. In ECG, Asymmetrical invert T wave diffuse, diffuse ST-segment depression, and left ventricular hypertrophy were observed. In echocardiography, the left ventricle was reported as hyperimmobile with increased EF (70–75%). Clinical discussion In the present study, a patient with Friedrich Ataxia was diagnosed with chest pain, dyspnea, and palpitations without any medical history, and was discharged from the hospital after treatment. In the patients introduced and our patient, there was significant fibro-myocardial hypertrophy, in which the ventricular septal hypertrophy was marked by hypertrophic cardiomyopathy. Conclusion Because early diagnosis of the disease is difficult, clinical signs and the patient's current profile at the time of referral will be very helpful.