Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy |
| |
Authors: | Sandra Mastroianno MD Michele Germano MD Angela Maggio MD Raimondo Massaro MD Domenico Rosario Potenza MD Aldo Russo MD Massimo Carella PhD Giuseppe Di Stolfo MD PhD |
| |
Affiliation: | 1. Cardiology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy;2. Child Neuropsychiatry Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy;3. Paediatric Oncology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy;4. Medical Genetic Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy |
| |
Abstract: | 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. |
| |
Keywords: | electrocardiogram Friedreich's ataxia treatment |
|
|