Predictors of Left Ventricular Dysfunction in Friedreich’s Ataxia in a 16-Year Observational Study

Background Friedreich’s ataxia (FRDA) is a cerebellar ataxia due to GAA repeat expansions in the FXN gene, and in affected patients, lower left ventricular ejection fraction (LVEF) leads to poorer prognosis. We aimed to identify patients likely to develop worsening LVEF at an early stage. Methods We...

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Published in:American journal of cardiovascular drugs : drugs, devices, and other interventions devices, and other interventions, 2020-04, Vol.20 (2), p.209-216
Main Authors: Legrand, Lise, Diallo, Abdourahmane, Monin, Marie-Lorraine, Ewenczyk, Claire, Charles, Perrine, Isnard, Richard, Vicaut, Eric, Montalescot, Gilles, Durr, Alexandra, Pousset, Francoise
Format: Article
Language:English
Subjects:
Age
Ataxia
Cardiac arrhythmia
Cardiology
Cardiomyopathy
Diabetes
Ejection fraction
Flow velocity
Heart failure
Life Sciences
Medical prognosis
Medicine
Medicine & Public Health
Observational studies
Original Research Article
Patients
Pharmacology/Toxicology
Pharmacotherapy
Values
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Summary:Background Friedreich’s ataxia (FRDA) is a cerebellar ataxia due to GAA repeat expansions in the FXN gene, and in affected patients, lower left ventricular ejection fraction (LVEF) leads to poorer prognosis. We aimed to identify patients likely to develop worsening LVEF at an early stage. Methods We included 115 FRDA patients aged 30 ± 10 years with 620 ± 238 GAA repeats on the shorter allele and disease onset of 15 ± 7 years. Results At baseline, left ventricular (LV) hypertrophy was present in 53%, with LVEF 65 ± 7%, LV end diastolic diameter (LVEDD) 43 ± 5 mm, septal wall thickness (SWT) 11.8 ± 2.7 mm, and posterior wall thickness 11.1 ± 2.5 mm. After a mean follow-up of 13 ± 6 years, LVEF ≤ 50% was observed in 12 patients. The main determinants of LVEF ≤ 50% were GAA repeat number on the shorter allele (odds ratio [OR] 1.007, 95% confidence interval [CI] 1.003–1.012, p  = 0.002), LVEDD (OR 1.217, 95% CI 1.058–1.399, p  = 0.006), and SWT (OR 1.352, 95% CI 1.016–1.799, p  = 0.04). High-risk patients were predicted 5 years before LVEF ≤ 50% occurred: area under the curve of 0.91, 95% CI 0.85–0.97. Patients with GAA repeats > 800 were categorized as high risk, patients with 500 
ISSN:1175-3277
1179-187X
DOI:10.1007/s40256-019-00375-z