| Autor: |
Mastroianno, Sandra, Germano, Michele, Maggio, Angela, Massaro, Raimondo, Potenza, Domenico Rosario, Russo, Aldo, Carella, Massimo, Di Stolfo, Giuseppe |
| Zdroj: |
Annals of Noninvasive Electrocardiology; Jul2021, Vol. 26 Issue 4, p1-4, 4p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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