Abstract
Iron deposits, diffuse fibrosis and focal necrosis are found in Friedreich's cardiomyopathy. We hypothesized that subclinical left ventricular (LV) dysfunction might occur in patients with Friedreich ataxia (FA) who present with normal LV ejection fraction (LVEF) and mass. Twelve patients with FA (mean age: 36 ± 18 years) and twelve age-matched healthy controls (mean age: 36 ± 17 years) were submitted to standard echocardiography. Short axis basal and apical views were analyzed using speckle tracking software. LV twist was defined as the net difference between the apical and basal rotation. The two groups did not differ in terms of LVEF (65 ± 4% and 65 ± 6% in patients and in controls, respectively) and in systolic mitral annular velocities (7.6 ± 1.3 cm/s in patients and 8.3 ± 1.2 cm/s in controls). A slightly higher LV mass index (M-mode, American Society of Echocardiography convention) was observed in the patient group (93 ± 23 g/m_ versus 86 ± 18 g/m_, p = NS). The LV filling parameters did not differ between the 2 groups. However, early diastolic mitral annular velocity (Ea) was lower and the ratio of early transmitral flow velocity to Ea was higher in Friedreich ataxia patients (table). Peak LV twist was significantly reduced in patients as compared to controls, unlike early diastolic LV untwisting (at 5%, 10% and 15% of diastole) which was not significantly different. In patients with FA and normal LVEF and mass, the detection of a reduction in LV twist and an alteration in mitral annular diastolic velocities suggests the presence of subtle myocardial dysfunction. Evaluation of these parameters may prove useful as outcome measures for the assessment and follow-up of new therapies in the early stages of the disease.Empty CellFriedreich patientsControlsP valueE wave velocity (cm/s)73 ± 1073 ± 10NSE/A1.7 ± 0.71.95 ± 0.7NSEa (cm/s)9.3 ± 1.912.1 ± 3.40.02E/Ea8.6 ± 2.16.6 ± 1.90.03Peak LV twist (°)9.2 ± 3.412.1 ± 2.40.02
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