Management and therapy for cardiomyopathy in Friedreich's ataxia.
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.
Department of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA. lynchd@mail.med.upenn.edu
David R
DR
Lynch
Sean R
SR
Regner
Kimberly A
KA
Schadt
Lisa S
LS
Friedman
Kimberly Y
KY
Lin
Martin G
MG
St John Sutton
D000818:Animals; D001145:Arrhythmias, Cardiac / Q000209:etiology / Q000628:therapy; D009202:Cardiomyopathies / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D002986:Clinical Trials as Topic; D018450:Disease Progression; D005621:Friedreich Ataxia / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D006333:Heart Failure / Q000209:etiology / Q000628:therapy; D006801:Humans; D009154:Mutation; D020521:Stroke / Q000209:etiology / Q000628:therapy