Open AccessElectrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy
Author(s) -
Mastroianno Sandra,
Germano Michele,
Maggio Angela,
Massaro Raimondo,
Potenza Domenico Rosario,
Russo Aldo,
Carella Massimo,
Di Stolfo Giuseppe
Publication year - 2021
Publication title -
annals of noninvasive electrocardiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.494
H-Index - 48
eISSN - 1542-474X
pISSN - 1082-720X
DOI - 10.1111/anec.12813
Subject(s) - medicine , frataxin , ataxia , gait ataxia , cardiology , cardiomyopathy , dysarthria , heart failure , surrogate endpoint , physical medicine and rehabilitation , pediatrics , audiology , psychiatry , iron binding proteins , transferrin
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.