title: Cardiomyopathy of Friedreich ataxia.
abstract: Friedreich's ataxia is a rare hereditary, predominantly neurologically defined multisystem disorder of mitochondrial function. Although the gene defect has been identified, the precise pathophysiology of the deficient mitochondrial protein, frataxin, is unknown. Besides the characteristic features of spinocerebellar ataxia the heart may also be affected, and patients may experience a hypertrophic cardiomyopathy eventually progressing toward heart failure and death. So far, research focused on the neurological aspects and little attention has been paid to better characterize and understand the cardiac involvement in Friedreich's ataxia. For that, a better understanding of longitudinal progression, cardiac complications and long-term cardiac outcome is warranted. In addition, the clinician should be familiar with the therapeutic option in Friedreich cardiomyopathy. This review discusses important clinical and diagnostic features of the cardiomyopathy in Friedreich's ataxia and potential therapeutic developments.
authors.affiliation: Department of Internal Medicine I, Comprehensive Heart Failure Center, University of Würzburg, Würzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de
authors.forename: Frank
authors.initials: F
authors.lastname: Weidemann
authors.forename: Stefan
authors.initials: S
authors.lastname: Störk
authors.forename: Dan
authors.initials: D
authors.lastname: Liu
authors.forename: Kai
authors.initials: K
authors.lastname: Hu
authors.forename: Sebastian
authors.initials: S
authors.lastname: Herrmann
authors.forename: Georg
authors.initials: G
authors.lastname: Ertl
authors.forename: Markus
authors.initials: M
authors.lastname: Niemann
mesh_terms: D009202:Cardiomyopathies / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D003937:Diagnosis, Differential; D004562:Electrocardiography; D005621:Friedreich Ataxia / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D008279:Magnetic Resonance Imaging; D014463:Ultrasonography
keywords: echocardiography; hypertrophy; typical features