Document Detail

Management and therapy for cardiomyopathy in Friedreich's ataxia.
MedLine Citation:
PMID:  22894632     Owner:  NLM     Status:  In-Data-Review    
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.
David R Lynch; Sean R Regner; Kimberly A Schadt; Lisa S Friedman; Kimberly Y Lin; Martin G St John Sutton
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Expert review of cardiovascular therapy     Volume:  10     ISSN:  1744-8344     ISO Abbreviation:  Expert Rev Cardiovasc Ther     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-08-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101182328     Medline TA:  Expert Rev Cardiovasc Ther     Country:  England    
Other Details:
Languages:  eng     Pagination:  767-77     Citation Subset:  IM    
Department of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA.
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