Prognostic value of longitudinal strain and ejection fraction in Friedreich's ataxia

Background Friedreich's ataxia (FA) is a rare autosomal recessive mitochondrial disease most commonly due to triplet repeat expansion guanine-adenine-adenine (GAA) in the FXN gene. Cardiac major cause of death, patients with reduced left ventricular ejection fraction (LVEF) having worse prognosis. Longitudinal strain (LS) appeared be better predictor outcome than LVEF different diseases. We compared prognostic value LS measured from 4 chambers view LVEF. Methods From 2003 2017 consecutive FA were included and analysis was retrospectively performed. Results studied 140 patients, median age 34 (26–41) years (Q1–Q3) at onset 14 (11–19) GAA repeats on shorter allele 600 (467–783) pb. Mean 19.9 ± 5.0% 64 8%. After mean follow-up 7.4 3.9 years, died. In univariate Cox analysis, all-cause mortality associated with: (HR 0.83; 95%CI, 0.75–0.91, p = 0.0002), 0.30; 0.19–0.49, < 0.0001), 1.29; 1.10–1.51, 0.002), 0.87; 0.77–0.98, 0.018), LVSystolic Diameter 1.17; 1.09–1.26, LVMass index 1.02; 1.00–1.04, 0.027), LVDiastolic (HR1.12; 1.01–1.23, 0.028). multivariate only independent 0.41; 0.23–0.74, 0.0029). Conclusion FA, not an mortality, remained present study.