Abstract
Myocardial involvement in Friedreich's ataxia (FRDA) is characterized by iron deposits, diffuse fibrosis, and focal necrosis. We hypothesized that subclinical left ventricular (LV) dysfunction may occur in 'FRDA patients who have normal LV ejection fraction (LVEF) and mass. Twenty patients homozygous for the GAA expansion in the frataxin gene (mean age: 35 ± 16 years) and twenty age- and sex-matched controls (mean age: 34 ± 15 years) were studied using conventional echocardiography and speckle-tracking imaging. The two groups did not differ in terms of the LVEF (68 ± 6 vs. 67 ± 6%, in patients and controls, respectively) or LV mass (91 ± 20 vs. 82 ± 17 g/m(2)). Global systolic longitudinal (-15.3 ± 2.1 vs. -17.5 ± 1.6%, P = 0.001) and circumferential (-19.5 ± 2.9 vs. -21.4 ± 2.6%, P = 0.034) strain, and peak LV twist (9.2 ± 3.3 vs. 11.7 ± 2.3°, P = 0.008) were significantly reduced in patients compared with controls. Indexed stroke volume was also significantly lower in patients (36 ± 5 vs. 43 ± 8 mL/m(2), P = 0.0012) and this decreased LV pump performance was associated with a concentric remodelling pattern (relative wall thickness: 0.47 ± 0.08 vs. 0.35 ± 0.05, P < 0.001). There is evidence of morphological and functional abnormalities in FRDA patients with normal LVEF and mass.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.