Prognostic value of longitudinal strain and ejection fraction in Friedreich's ataxia. (1st May 2021) - Legrand, L.
Abstract: Background: Friedreich's ataxia (FA) is a rare autosomal recessive mitochondrial disease most commonly due to a triplet repeat expansion guanine-adenine-adenine (GAA) in the FXN gene. Cardiac disease is the major cause of death, patients with reduced left ventricular ejection fraction (LVEF) having the worse prognosis. Longitudinal strain (LS) appeared to be a better predictor of outcome than LVEF in different diseases. We compared the prognostic value of LS measured from the 4 chambers view to LVEF. Methods: From 2003 to 2017 consecutive patients with FA were included and LS analysis was retrospectively performed. Results: We studied 140 patients, with a median age of 34 (26–41) years (Q1–Q3) with age at onset of 14 (11–19) years and GAA repeats on the shorter allele of 600 (467–783) pb. Mean LS was 19.9 ± 5.0% and LVEF 64 ± 8%. After a mean follow-up of 7.4 ± 3.9 years, 14 patients died. In univariate Cox analysis, all-cause mortality was associated with: LS (HR 0.83; 95%CI, 0.75–0.91, p = 0.0002), LVEF (HR 0.30; 95%CI, 0.19–0.49, p < 0.0001), GAA repeats on the shorter allele (HR 1.29; 95%CI, 1.10–1.51, p = 0.002), age at onset (HR 0.87; 95%CI, 0.77–0.98, p = 0.018), LVSystolic Diameter (HR 1.17; 95%CI, 1.09–1.26, p < 0.0001), LVMass index (HR 1.02; 95%CI, 1.00–1.04, p = 0.027), and LVDiastolic Diameter (HR1.12; 95%CI, 1.01–1.23, p = 0.028). In multivariate analysis, LVEF was the only independent predictor of mortality (HR 0.41; 95%CI, 0.23–0.74, p = 0.0029). Conclusion: In FA, LS was not an independent predictor of mortality, LVEF remained the only independent predictor in the present study. Highlights: Longitudinal strain correlates with the length of both alleles of the FXN gene in Friedreich Ataxia (FA). Longitudinal strain (LS) is a strong prognostic factor in univariate analysis in FA. LS is not an independent predictor of mortality when LVEF is included in the analysis in FA patients. The role of longitudinal strain in the management of FA patients remains to be defined.