title: Normal left ventricular ejection fraction and mass but subclinical myocardial dysfunction in patients with Friedreich's ataxia.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  There is evidence of morphological and functional abnormalities in FRDA patients with normal LVEF and mass.
authors: Department of Cardiology, Erasme Hospital, Université Libre de Bruxelles, 808 Route de Lennik, Brussels, Belgium. chantal.dedobbeleer@erasme.ulb.ac.be
authors: Chantal
authors: C
authors: Dedobbeleer
authors: Myriam
authors: M
authors: Rai
authors: Erwan
authors: E
authors: Donal
authors: Massimo
authors: M
authors: Pandolfo
authors: Philippe
authors: P
authors: Unger
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology*; D006305:Health Status Indicators; D006801:Humans; D008297:Male; D009206:Myocardium / Q000473:pathology*; D011446:Prospective Studies; D013223:Statistics as Topic; D018709:Statistics, Nonparametric; D013318:Stroke Volume; D014463:Ultrasonography; D016277:Ventricular Function, Left; D020257:Ventricular Remodeling