A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

Francoise Pousset, MD; Lise Legrand, MD; Marie-Lorraine Monin, MD; Claire Ewenczyk, MD; Perrine Charles, MD, PhD; Michel Komajda, MD; Alexis Brice, MD; Massimo Pandolfo, MD; Richard Isnard, MD, PhD; Sophie Tezenas du Montcel, MD, PhD; Alexandra Durr, MD, PhD. JAMA Neurol. Published online September 28, 2015. doi:10.1001/jamaneurol.2015.1855

Survival in FRDA is determined by cardiac complications, which are dependent on the mutation. The patients with the worse cardiac evolution had longer GAA repeats. Neurological impairment was not predictive of cardiac change over time. Patients with progressive decline of the left ventricular ejection fraction had a worse prognosis. This finding demonstrates that cardiac follow-up is important in FRDA to identify individuals at risk for further cardiac complications.

 A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia