Management and therapy for cardiomyopathy in Friedreich's ataxia

Expert Rev Cardiovasc Ther. 2012 Jun;10(6):767-77. doi: 10.1586/erc.12.57.


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.

Publication types

  • Review

MeSH terms

  • Animals
  • Arrhythmias, Cardiac / etiology
  • Arrhythmias, Cardiac / therapy
  • Cardiomyopathies / etiology*
  • Cardiomyopathies / physiopathology
  • Cardiomyopathies / therapy
  • Clinical Trials as Topic
  • Disease Progression
  • Friedreich Ataxia / genetics
  • Friedreich Ataxia / physiopathology*
  • Friedreich Ataxia / therapy
  • Heart Failure / etiology
  • Heart Failure / therapy
  • Humans
  • Mutation
  • Stroke / etiology
  • Stroke / therapy