Management and therapy for cardiomyopathy in Friedreich’s ataxia
Expert Review of Cardiovascular Therapy2012Vol. 10(6), pp. 767–777
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David R. Lynch, Sean R. Regner, Kimberly Schadt, Lisa S. Friedman, Kimberly Y. Lin, Martin G. St. John Sutton
Abstract
The autosomal-recessive disorder Friedreich's ataxia is characterized by progressive ataxia, often in association with cardiomyopathy. The most frequent cause of death is cardiac dysfunction, reflecting congestive heart failure, ventricular arrhythmias and cardio-embolic stroke. With the discovery of the underlying genetic mutation, a variety of novel therapies are now progressing into clinical trials. Consequently, it is crucial to understand the features of cardiomyopathy in this disease and how new treatments may improve cardiac function. The present artcle reviews the molecular basis of the disease, the clinical features of cardiomyopathy in Friedreich's ataxia and the upcoming therapies.
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