Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Ann Noninvasive Electrocardiol
; 26(4): e12813, 2021 07.
Article
en 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
6_ODS3_enfermedades_notrasmisibles
Problema de salud:
6_endocrine_disorders
Asunto principal:
Ataxia de Friedreich
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
Idioma:
En
Revista:
Ann Noninvasive Electrocardiol
Asunto de la revista:
CARDIOLOGIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Italia