title: The evaluation of left ventricular systolic and diastolic functions in patients with Friedreich ataxia. A pulse tissue Doppler study.
abstract: Friedreich's ataxia (FRDA), the most common subtype of early onset hereditary ataxia, is an autosomal recessive neurodegenerative disorder caused by unstable GAA expansions. Two-dimensional, pulse, and pulse tissue Doppler echocardiographic examinations were performed on 21 patients with GAA expansion. There was no association between left ventricle ejection fraction, tissue Doppler systolic s wave, and left ventricle diastolic functions examined by pulse and tissue Doppler. The septum thickness of patients with Friedreich's ataxia was significantly increased when compared with that of the control group and wall thickness was found to be associated with GAA repeats. In patients with FRDA, despite a correlation between genetic abnormality with left ventricular early and late diastolic parameters, global diastolic functions were preserved when examined by tissue Doppler.
authors.affiliation: Department of Neurology, School of Medicine, Cukurova University, Adana, Turkey.
authors.forename: Filiz
authors.initials: F
authors.lastname: Koc
authors.forename: Onur
authors.initials: O
authors.lastname: Akpinar
authors.forename: Deniz
authors.initials: D
authors.lastname: Yerdelen
authors.forename: Mesut
authors.initials: M
authors.lastname: Demir
authors.forename: Yakup
authors.initials: Y
authors.lastname: Sarica
authors.forename: Mehmet
authors.initials: M
authors.lastname: Kanadasi
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D003971:Diastole; D018619:Echocardiography, Doppler, Pulsed; D005621:Friedreich Ataxia / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D013599:Systole; D016277:Ventricular Function, Left