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- W1966301500 abstract "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." @default.
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- W1966301500 date "2012-03-08" @default.
- W1966301500 modified "2023-09-27" @default.
- W1966301500 title "Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia" @default.
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- W1966301500 doi "https://doi.org/10.1177/0883073811435242" @default.
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