Cardiomyopathy in Friedreich's ataxia: assessment by echocardiography and cardiac magnetic resonance imaging

Cardiomyopathy is an important and frequently life limiting manifestation of Friedreich's ataxia (FA), the most prevalent form of autosomal recessive ataxia. FA associated cardiomyopathy is supposed to be of hypertrophic type. Recent therapeutical trials in FA aimed to reduce left ventricular mass by supplementation of the quinone coenzyme Q10 or its short-chain analogue idebenone with variable effects. To characterize FA associated cardiomyopathy and analyse cardiac parameters as potential outcome measures for therapeutical trials, we investigated 41 adult patients with genetically confirmed FA clinically, by e…