Table 1.
Clinical, genetic, electrocardiographic, and echocardiographic characteristics of 85 patients with Friedreich ataxia.
| Parameters | Patients (n = 85) Mean ± SD |
|---|---|
| Age (years) | 39 ± 12 |
| Male sex n (%) | 44 (51) |
| Body surface area (m2) | 1.8 ± 1.7 |
| GAA1 pb | 480 ± 300 |
| GAA2 pb (n = 83) | 750 ± 300 |
| Age at onset (years) (n = 83) | 17 ± 10 |
| Age at becoming wheelchair bound (years) (n = 53), | 26 ± 9 |
| Systolic blood pressure (mm Hg) | 117 ± 12 |
| Diastolic blood pressure (mm Hg) | 75 ± 13 |
| Heart rate (beats/min) | 77 ± 13 |
| Septal wall thickness (mm) | 11 ± 2 |
| Posterior wall thickness (mm) | 10 ± 2 |
| Relative wall thickness (RWT) > 0.42, n (%) | 60 (71%) |
| Left ventricular diastolic diameter (mm) | 45 ± 5 |
| Left ventricular systolic diameter (mm) (n = 82) | 27 ± 6 |
| Left ventricular ejection fraction (%) | 64 ± 6 |
| Left ventricular mass index (g/m2) | 98 ± 24 |
| Trans mitral E wave (cm/s) (n = 84) | 70 ± 10 |
| Trans mitral A wave (cm/s) (n = 81), | 60 ± 20 |
| Trans mitral E/A ratio (n = 81) | 1.3 ± 0.6 |
| Lateral E/E’ ratio (n = 84) | 6.2 ± 2.2 |
| Left atrial area (cm2) (n = 83) | 17 ± 5 |
GAA1 number of guanine-adenine-adenine (GAA). repeats in the shorter allele of the frataxin (FXN) gene; GAA2 number of GAA repeats in the larger allele of the FXN gene; E’ peak E’ velocity measured at the lateral wall (tissue Doppler imaging).