Case report on Friedreich ataxia with coronary artery disease and structural heart disease

Approximately 50% of patients with Friedreich's ataxia exhibit cardiomyopathy on echocardiography, making it the most prevalent genetic neurodegenerative condition. Since coronary artery disease has historically been discounted, even when angina has been documented in these people, its significance is understated. Angiographically, patients with Friedreich's ataxia have rarely shown evidence of premature obstructive coronary disease. Here, we present an unusual case of a 35-year-old man with Friedreich's ataxia who presented with severe central compressive chest pain associated with dyspnea and diaphoresis and was finally diagnosed as a case of acute myocardial infarction of the anterior wall. Due to the likelihood of underdiagnosing coronary artery disease in this population, this case highlights the significance of thoroughly examining anginal symptoms in individuals with Friedreich's ataxia. An aggressive treatment plan and a delay in the development of end-stage cardiomyopathy may be made possible by an early diagnosis. Hypertrophic cardiomyopathy • Frataxin • Friedreich ataxia • Echocardiogram