International Heart Journal
Online ISSN : 1349-3299
Print ISSN : 1349-2365
ISSN-L : 1349-2365
Clinical Studies
The Evaluation of Left Ventricular Systolic and Diastolic Functions in Patients With Friedreich Ataxia
A Pulse Tissue Doppler Study
Filiz KocOnur AkpinarDeniz YerdelenMesut DemirYakup SaricaMehmet Kanadasi
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JOURNAL FREE ACCESS

2005 Volume 46 Issue 3 Pages 443-452

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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.

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© 2005 by the International Heart Journal Association
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