Cardiac dysfunction exacerbated by endocrinopathies in Friedreich ataxia: a case series
Madeline Snyder1, Lauren Seyer, David R Lynch
1Department of Neurology, University of South Florida College of Medicine, Parkinson's Disease and Movement, Disorders Center, Tampa, FL 33612, USA. msnyder1@health.usf.edu
Insights
Friedreich ataxia patients with undiagnosed diabetes or Graves disease experienced rapid cardiac decline. Early screening and treatment of these endocrinopathies can improve cardiac function in Friedreich ataxia.
Area of Science:
- Neurodegenerative Diseases
- Cardiology
- Endocrinology
Background:
- Friedreich ataxia (FA) is a neurodegenerative disorder with frequent cardiac involvement, including cardiomyopathy and heart failure.
- Cardiac dysfunction in FA is linked to frataxin deficiency, oxidative stress, and metabolic issues.
- Congestive heart failure is a leading cause of mortality in FA patients.
Observation:
- Two teenage FA patients presented with dramatic cardiac function deterioration.
- One patient had undiagnosed diabetes mellitus leading to diabetic ketoacidosis and severe left ventricular dysfunction.
- The other patient's known cardiomyopathy rapidly worsened due to underlying Graves disease.
Findings:
- Endocrinopathies significantly exacerbate cardiac dysfunction in Friedreich ataxia.
- Prompt management of diabetes and Graves disease in these cases restored cardiac function to baseline.
- This highlights a critical interplay between endocrine disorders and FA-related cardiac pathology.
Implications:
- Screening for endocrinopathies in FA patients is crucial for identifying at-risk individuals.
- Addressing underlying endocrine disorders may represent a novel therapeutic strategy to prevent or manage FA-associated cardiac dysfunction.
- This approach could improve outcomes and reduce mortality in Friedreich ataxia.
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.
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