Cardiomyopathy in Friedreich's Ataxia: Exemplifying the Challenges Faced by the Cardiologists in the Management of Rare Diseases
Friedreich's ataxia (FA) is an autosomal recessively inherited neurodegenerative disease that most often presents in childhood or in young adults. A substantial proportion of the patients with FA also develops a cardiomyopathy that mainly presents as left ventricular hypertrophy (FA-CM). The mean life expectancy is significantly reduced to approximately 40 years, and approximately 60% of patients with FA die from cardiac causes1,2. The prevalence of FA is 0.1-4.7:100.000 and estimated 9.000 Americans are affected3. The potential ability to reduce the disease progression or even reverse the FA-CM by antioxidants underscores the importance of early identification of the disease and the development of clinically identifiable markers of cardiac involvement. In the current issue of Circulation the MICONOS study group investigated such markers4. (SELECT FULL TEXT TO CONTINUE)
- mitochondrial disease cardiomyopathy
- randomized controlled trial
- Received February 20, 2012.
- Accepted February 27, 2012.
- Copyright © 2012, American Heart Association, Inc. All rights reserved. Unauthorized use prohibited