Cardiomyopathy in the Friedreich ataxia: Clinical presentation and diagnostics of complications

Abstract

Friedreich’s ataxia (FA) is one of the most prevalent variants of the inherited ataxias. The disease is characterized by complicated phenotype that includes neurological signs (ataxia, sensory polyneuropathy, dysarthria, disorders of deep sensitivity, areflexia, pyramid symptoms with lower extremities involvement, vegetative disorders, sometimes — psychopathological symptoms), cardiological disorders (cardiomyopathy, heart failure, arrhythmias), and disorders of carbohydrate metabolism, and skeletal deformities. If neurological disorders lead to significant decrease of life quality and disability, cardiovascular complications are the main cause of fatal outcome in FA. It is worthy to mention that involvement of the heart into pathological process might long remain undiagnosed. Recently, most of abroad and local publications on FA are related to neurological presentation. Cardiovascular side of the problem in the scientific society remains underestimated, regardless the risk of sudden death and of heart failure (due to symmetric myocardial hypertrophy with the areas of intramyocardial fibrosis) being high. We present clinical and genetic observation of a 27-year old patient with FA, moderate neurological disorders and severe myocardial hypertrophy. The article is focused on the contemporary clinical and diagnostic aspects of FA associated cardiomyopathy.