title: Cardiac dysfunction exacerbated by endocrinopathies in Friedreich ataxia: a case series.
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.
authors.affiliation: Department of Neurology, University of South Florida College of Medicine, Parkinson's Disease and Movement, Disorders Center, Tampa, FL 33612, USA. msnyder1@health.usf.edu
authors.forename: Madeline
authors.initials: M
authors.lastname: Snyder
authors.forename: Lauren
authors.initials: L
authors.lastname: Seyer
authors.forename: David R
authors.initials: DR
authors.lastname: Lynch
authors.forename: Andrew
authors.initials: A
authors.lastname: Resnick
authors.forename: Theresa A
authors.initials: TA
authors.lastname: Zesiewicz
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000150:complications*; D048909:Diabetes Complications / Q000188:drug therapy; D004562:Electrocardiography; D005621:Friedreich Ataxia / Q000150:complications* / Q000188:drug therapy; D006111:Graves Disease / Q000209:etiology; D006801:Humans; D007328:Insulin / Q000627:therapeutic use; D008297:Male; D018754:Ventricular Dysfunction / Q000209:etiology*
chemical_list: D007328:Insulin