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Expert Review of Cardiovascular Therapy Volume 10, 2012 - Issue 6
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Theme: Pediatric & Geriatric Cardiology - Review

Management and therapy for cardiomyopathy in Friedreich’s ataxia

David R Lynch Department of Neurology, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Pediatrics, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Neurology, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA. [email protected]
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Sean R Regner Department of Neurology, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Pediatrics, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Neurology, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Pediatrics, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA
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Kimberly A Schadt Department of Neurology, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Pediatrics, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Neurology, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Pediatrics, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA
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Lisa S Friedman Department of Neurology, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Pediatrics, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Neurology, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Pediatrics, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA
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Kimberly Y Lin Department of Pediatrics, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA; Department of Pediatrics, Children’s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA
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Martin G St John Sutton Department of Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA
Pages 767-777 | Published online: 10 Jan 2014
 
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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.

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

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