title: Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI.
abstract: Cardiomyopathy is an important and frequently life limiting manifestation of Friedreich's ataxia (FA), the most prevalent form of autosomal recessive ataxia. Left ventricular mass is used as primary outcome measure in recent intervention studies but systematic analyses of FA cardiomyopathy are sparse. To assess cardiac hypertrophy by cardiac magnetic resonance imaging (MRI) in vivo, we assessed 41 adult patients with genetically confirmed FA and 33 age- and sex-matched healthy controls by cardiac MRI and echocardiogarphy. Septal hypertrophy and left ventricular mass index were determined by two independent raters. MRI revealed hypertrophy of the interventricular septum in 40% and increased left ventricular mass index in 29% of patients. Interobserver variability was less than 5% for both measures. GAA repeat length had only minor influence on interventricular septum thickness. Left ventricular mass index decreased with age. Severity of ataxia did not correlate with cardiac disease. In echocardiography wall diameter was assessable only in 31 of 41 FA patients with 32% of patients presenting septal hypertrophy and 6% increased left ventricular mass index. We conclude that cardiac hypertrophy is present only in a minority of adult FA patients. If despite this limitation intervention studies use left ventricular mass as outcome measure, MRI is recommended as the most accurate assessment of cardiac anatomy in vivo.
authors.affiliation: Department of Neurology, St. Josef Hospital, Ruhr-University Bochum, Germany.
authors.forename: Chris
authors.initials: C
authors.lastname: Meyer
authors.forename: Gebhard
authors.initials: G
authors.lastname: Schmid
authors.forename: Sabine
authors.initials: S
authors.lastname: Görlitz
authors.forename: Monika
authors.initials: M
authors.lastname: Ernst
authors.forename: Christian
authors.initials: C
authors.lastname: Wilkens
authors.forename: Inga
authors.initials: I
authors.lastname: Wilhelms
authors.forename: Peter H
authors.initials: PH
authors.lastname: Kraus
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Jürgen
authors.initials: J
authors.lastname: Tomiuk
authors.forename: Horst
authors.initials: H
authors.lastname: Przuntek
authors.forename: Andreas
authors.initials: A
authors.lastname: Mügge
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
mesh_terms: D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000209:etiology* / Q000235:genetics / Q000473:pathology*; D016022:Case-Control Studies; D004452:Echocardiography; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications* / Q000235:genetics; D006346:Heart Septum / Q000473:pathology; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology*; D018911:Trinucleotide Repeats / Q000235:genetics