Journal of child neurology
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Biography Historical Article
In Memorium: Bhuwan Garg, MBBS (1944-2012).
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Case Reports
Cardiac dysfunction exacerbated by endocrinopathies in Friedreich ataxia: a case series.
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. ⋯ 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.