Abstract 9993: Friedreich Ataxia is Associated with Endothelial Dysfunction and Increased Arterial Stiffness
Purpose: Friedreich's ataxia (FA) is an autosomal recessive disorder characterized by spinocerebellar degeneration and increased oxidative status. However, vascular function in the syndrome remains unknown. In this study we assessed the hypothesis that FA patients have impaired vascular function.
Methods: Nine teen FA patients diagnosed by molecular genetic analysis (aged 30 ± 10.88 years) were compared with thirty five age and sex matched healthy subjects. Endothelial function was evaluated by flow mediated dilation (FMD) in the brachial artery and arterial stiffness was evaluated by augmentation index (AIx). Left ventricle end diastolic diameter, intra ventricular septum and posterior wall were measured by echocardiography examination and left ventricle (LV) mass was calculated by Penn’s formula. LV mass index was calculated by subdivided LV mass with body surface area.
Results: FA patients, compared to healthy subjects, had significantly lower FMD values (4.08 ± 1.08 % vs 9.46 ± 3.76 %, p<0.001) and higher AIx values (10.93 ± 16.56 % vs 0.98 ± 14.19 %, p=0.05). FA patients also had significant thicker intra ventricular septum (9.8 ± 2.15 cm vs 8.2 ± 0.91 cm, p<0.05), posterior wall (10.12 ± 2.00 vs 8.10 ± 0.73 cm, p<0.05) and increased LV mass index (112.08±48,20 vs. 85.17±16.01, p=0.05).
Conclusion: Friedreich's ataxia patients have impaired endothelial function, increased arterial stiffness and increased LV mass index. These results highlight the need for intense modification of cardiovascular risk factors in this population.
- © 2011 by American Heart Association, Inc.