Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Ann Noninvasive Electrocardiol
; 26(4): e12813, 2021 07.
Article
em En
| MEDLINE
| ID: mdl-33151022
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia de Friedreich
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
Idioma:
En
Revista:
Ann Noninvasive Electrocardiol
Assunto da revista:
CARDIOLOGIA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Itália