Document Detail

Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia: A Case Series.
MedLine Citation:
PMID:  22408141     Owner:  NLM     Status:  Publisher    
Friedreich ataxia is a neurodegenerative disease characterized by gait abnormalities, cardiomyopathy, and diabetes. Congestive heart failure was recently reported as the most frequent cause of Friedreich ataxia mortality. Cardiac dysfunction is suspected to result from a frataxin deficiency that leads to oxidative damage in cardiac tissues and possible metabolic syndrome characteristics. In this report, we describe 2 patient cases whose cardiac function worsened dramatically in the presence of underlying endocrinopathies. We report on one Friedreich ataxia teenager with previously undiagnosed diabetes that resulted in diabetic ketoacidosis and rapid progression to severe left ventricular dysfunction. We also describe a Friedreich ataxia teenager whose underlying Graves disease led to rapid worsening of known cardiomyopathy. Cardiac management and treatment for the endocrinopathies returned cardiac function to baseline. We conclude that screening for and awareness of underlying endocrinopathies in Friedreich ataxia may provide novel therapeutic targets for preventing Friedreich ataxia-associated cardiac dysfunction.
Madeline Snyder; Lauren Seyer; David R Lynch; Andrew Resnick; Theresa A Zesiewicz
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-8
Journal Detail:
Title:  Journal of child neurology     Volume:  -     ISSN:  1708-8283     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-3-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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