{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T05:20:31Z","timestamp":1782796831594,"version":"3.54.5"},"reference-count":24,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T00:00:00Z","timestamp":1590624000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Seventh Framework Programme","award":["HEALTH-F22010-242193"],"award-info":[{"award-number":["HEALTH-F22010-242193"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Friedreich\u2019s ataxia (FA) is a rare autosomal recessive mitochondrial disease resulting of a triplet repeat expansion guanine-adenine-adenine (GAA) in the frataxin (FXN) gene, exhibiting progressive cerebellar ataxia, diabetes and cardiomyopathy. We aimed to determine the relationship between cardiac biomarkers, serum N-terminal pro-brain natriuretic peptide (NT-proBNP), and serum cardiac high-sensitivity troponin (hsTnT) concentrations, and the extent of genetic abnormality and cardiac parameters. Methods: Between 2013 and 2015, 85 consecutive genetically confirmed FA adult patients were prospectively evaluated by measuring plasma hsTnT and NT-proBNP concentrations, electrocardiogram, and echocardiography. Results: The 85 FA patients (49% women) with a mean age of 39 \u00b1 12 years, a mean disease onset of 17 \u00b1 11 years had a mean SARA (Scale for the Assessment and Rating of Ataxia) score of 26 \u00b1 10. The median hsTnT concentration was 10 ng\/L (3 to 85 ng\/L) and 34% had a significant elevated hsTnT \u2265 14 ng\/L. Increased septal wall thickness was associated with increased hsTnT plasma levels (p &lt; 0.001). The median NT-proBNP concentration was 31 ng\/L (5 to 775 ng\/L) and 14% had significant elevated NT-proBNP \u2265 125 ng\/L. Markers of increased left ventricular filling pressure (trans mitral E\/A and lateral E\/E\u2019 ratio) were associated with increased NT-proBNP plasma levels (p = 0.01 and p = 0.01). Length of GAA or the SARA score were not associated with hsTnT or NT-proBNP plasma levels. Conclusion: hsTnT was increased in 1\/3 of the adult FA and associated with increased septal wall thickness. Increased NT-proBNP remained a marker of increased left ventricular filling pressure. This could be used to identify patients that should undergo a closer cardiac surveillance.<\/jats:p>","DOI":"10.3390\/jcm9061630","type":"journal-article","created":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T00:44:02Z","timestamp":1590713042000},"page":"1630","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Significance of NT-proBNP and High-Sensitivity Troponin in Friedreich Ataxia"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4580-8471","authenticated-orcid":false,"given":"Lise","family":"Legrand","sequence":"first","affiliation":[{"name":"Cardiology Department, AP-HP, Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"ICAN (Institute for Cardiometabolism and Nutrition), Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75651 Paris, France"},{"name":"ACTION (Allies in Cardiovascular Trials Initiatives and Organized Networks) Group, URC Lariboisi\u00e8re University Hospital, 75475 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Maupain","sequence":"additional","affiliation":[{"name":"Cardiology Department, AP-HP, Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"ICAN (Institute for Cardiometabolism and Nutrition), Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75651 Paris, France"},{"name":"ACTION (Allies in Cardiovascular Trials Initiatives and Organized Networks) Group, URC Lariboisi\u00e8re University Hospital, 75475 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Lorraine","family":"Monin","sequence":"additional","affiliation":[{"name":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM), AP-HP, INSERM, CNRS, Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Ewenczyk","sequence":"additional","affiliation":[{"name":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM), AP-HP, INSERM, CNRS, Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Isnard","sequence":"additional","affiliation":[{"name":"Cardiology Department, AP-HP, Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"ICAN (Institute for Cardiometabolism and Nutrition), Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75651 Paris, France"},{"name":"ACTION (Allies in Cardiovascular Trials Initiatives and Organized Networks) Group, URC Lariboisi\u00e8re University Hospital, 75475 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rana","family":"Alkouri","sequence":"additional","affiliation":[{"name":"Metabolic Biochemistry Department, Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[{"name":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM), AP-HP, INSERM, CNRS, Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francoise","family":"Pousset","sequence":"additional","affiliation":[{"name":"Cardiology Department, AP-HP, Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"ICAN (Institute for Cardiometabolism and Nutrition), Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75651 Paris, France"},{"name":"ACTION (Allies in Cardiovascular Trials Initiatives and Organized Networks) Group, URC Lariboisi\u00e8re University Hospital, 75475 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1056\/NEJM199610173351601","article-title":"Clinical and genetic abnormalities in patients with Friedreich\u2019s ataxia","volume":"335","author":"Durr","year":"1996","journal-title":"N. 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