Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy

Sandra Mastroianno, Michele Germano, Angela Maggio, Raimondo Massaro, Domenico Rosario Potenza, Aldo Russo, Massimo Carella, Giuseppe Di Stolfo

Research output: Contribution to journalArticlepeer-review


Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of lower limb reflexes; cardiac involvement is represented by hypertrophic cardiomyopathy, ventricular arrhythmias, and sudden cardiac deaths. Currently, no definite therapy is available, while many drugs are under investigation; for this reasons, we need markers of short- and long-term treatment efficacy acting on different tissue for trial evaluation. We describe the case of a 21-year-old patient affected by Friedreich's ataxia on wheel-chair, with initial cardiac involvement and electrocardiographic features characterized by thiamine treatment-related negative T wave and QTc variations. We discuss plausible physiopathology and potential ECG role implications as an intermediate marker of treatment response in future clinical trials considering patients affected by Friedreich's ataxia.

Original languageEnglish
JournalAnnals of Noninvasive Electrocardiology
Publication statusAccepted/In press - 2020


  • electrocardiogram
  • Friedreich's ataxia
  • treatment

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

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