Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy
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 inv...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-07-01
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| Series: | Annals of Noninvasive Electrocardiology |
| Subjects: | |
| Online Access: | https://doi.org/10.1111/anec.12813 |
| _version_ | 1818455642380173312 |
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| author | Sandra Mastroianno Michele Germano Angela Maggio Raimondo Massaro Domenico Rosario Potenza Aldo Russo Massimo Carella Giuseppe Di Stolfo |
| author_facet | Sandra Mastroianno Michele Germano Angela Maggio Raimondo Massaro Domenico Rosario Potenza Aldo Russo Massimo Carella Giuseppe Di Stolfo |
| author_sort | Sandra Mastroianno |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T22:14:01Z |
| format | Article |
| id | doaj.art-85d001a1c4cd4b0aaeb0b54ad9d82e2f |
| institution | Directory Open Access Journal |
| issn | 1082-720X 1542-474X |
| language | English |
| last_indexed | 2024-12-14T22:14:01Z |
| publishDate | 2021-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Noninvasive Electrocardiology |
| spelling | doaj.art-85d001a1c4cd4b0aaeb0b54ad9d82e2f2022-12-21T22:45:40ZengWileyAnnals of Noninvasive Electrocardiology1082-720X1542-474X2021-07-01264n/an/a10.1111/anec.12813Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacySandra Mastroianno0Michele Germano1Angela Maggio2Raimondo Massaro3Domenico Rosario Potenza4Aldo Russo5Massimo Carella6Giuseppe Di Stolfo7Cardiology Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo ItalyChild Neuropsychiatry Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo ItalyPaediatric Oncology Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo ItalyCardiology Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo ItalyCardiology Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo ItalyCardiology Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo ItalyMedical Genetic Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo ItalyCardiology Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo ItalyAbstract 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.https://doi.org/10.1111/anec.12813electrocardiogramFriedreich's ataxiatreatment |
| spellingShingle | Sandra Mastroianno Michele Germano Angela Maggio Raimondo Massaro Domenico Rosario Potenza Aldo Russo Massimo Carella Giuseppe Di Stolfo Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy Annals of Noninvasive Electrocardiology electrocardiogram Friedreich's ataxia treatment |
| title | Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy |
| title_full | Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy |
| title_fullStr | Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy |
| title_full_unstemmed | Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy |
| title_short | Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy |
| title_sort | electrocardiogram in friedreich s ataxia a short term surrogate endpoint for treatment efficacy |
| topic | electrocardiogram Friedreich's ataxia treatment |
| url | https://doi.org/10.1111/anec.12813 |
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