{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T02:46:45Z","timestamp":1788058005716,"version":"build-2784847793"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100002108","name":"Friedreich's Ataxia Research Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Cardiol"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1007\/s00246-024-03429-5","type":"journal-article","created":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T14:02:01Z","timestamp":1709301721000},"page":"379-382","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia"],"prefix":"10.1007","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7168-214X","authenticated-orcid":false,"given":"David R.","family":"Lynch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sub","family":"Subramony","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly Y.","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Mathews","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Perlman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Rummey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,1]]},"reference":[{"key":"3429_CR1","unstructured":"Bidichandani SI, Delatycki MB. Friedreich Ataxia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993 [cited 2023 Nov 13]. Available from: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1281\/"},{"issue":"5254","key":"3429_CR2","doi-asserted-by":"publisher","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","volume":"271","author":"V Campuzano","year":"1996","unstructured":"Campuzano V, Montermini L, Molt\u00f2 MD, Pianese L, Coss\u00e9e M, Cavalcanti F et al (1996) Friedreich\u2019s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271(5254):1423\u20131427","journal-title":"Science"},{"issue":"11","key":"3429_CR3","doi-asserted-by":"publisher","first-page":"1771","DOI":"10.1093\/hmg\/6.11.1771","volume":"6","author":"V Campuzano","year":"1997","unstructured":"Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S et al (1997) Frataxin is reduced in friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 6(11):1771\u20131780","journal-title":"Hum Mol Genet"},{"issue":"2","key":"3429_CR4","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1002\/ana.25934","volume":"89","author":"DR Lynch","year":"2021","unstructured":"Lynch DR, Chin MP, Delatycki MB, Subramony SH, Corti M, Hoyle JC et al (2021) Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe study). Ann Neurol 89(2):212\u2013225","journal-title":"Ann Neurol"},{"key":"3429_CR5","unstructured":"The FA Clinical Outcome Measures Study (FA-COMS) - ClinicalTrials.gov [Internet]. Available from: https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03090789"},{"key":"3429_CR6","unstructured":"R Core Team. R: A language and environment for statistical computing [Internet]. Vienna, Austria; 2023. Available from: https:\/\/www.R-project.org\/"},{"issue":"375","key":"3429_CR7","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1016\/j.jns.2017.01.027","volume":"15","author":"A McCormick","year":"2017","unstructured":"McCormick A, Shinnick J, Schadt K, Rodriguez R, Addonizio L, Hirano M et al (2017) Cardiac transplantation in Friedreich ataxia: extended follow-up. J Neurol Sci 15(375):471\u2013473","journal-title":"J Neurol Sci"},{"key":"3429_CR8","first-page":"322455","volume":"2021","author":"G Norrish","year":"2021","unstructured":"Norrish G, Rance T, Montanes E, Field E, Brown E, Bhole V et al (2021) Friedreich\u2019s ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study. Arch Dis Child 2021:322455","journal-title":"Arch Dis Child"},{"issue":"2","key":"3429_CR9","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1136\/adc.84.2.167","volume":"84","author":"H Leonard","year":"2001","unstructured":"Leonard H, Forsyth R (2001) Friedreich\u2019s ataxia presenting after cardiac transplantation. Arch Dis Child 84(2):167\u2013168","journal-title":"Arch Dis Child"},{"issue":"14","key":"3429_CR10","doi-asserted-by":"publisher","first-page":"e1499","DOI":"10.1212\/WNL.0000000000200913","volume":"99","author":"C Rummey","year":"2022","unstructured":"Rummey C, Corben LA, Delatycki M, Wilmot G, Subramony SH, Corti M et al (2022) Natural history of Friedreich ataxia: heterogeneity of neurologic progression and consequences for clinical trial design. Neurology 99(14):e1499\u2013e1510","journal-title":"Neurology"},{"issue":"1\u20132","key":"3429_CR11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jns.2011.01.010","volume":"303","author":"AH Koeppen","year":"2011","unstructured":"Koeppen AH (2011) Friedreich\u2019s ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 303(1\u20132):1\u201312","journal-title":"J Neurol Sci"},{"key":"3429_CR12","doi-asserted-by":"publisher","first-page":"181","DOI":"10.2147\/TACG.S383446","volume":"16","author":"HJ Tadros","year":"2023","unstructured":"Tadros HJ, Miyake CY, Kearney DL, Kim JJ, Denfield SW (2023) The many faces of arrhythmogenic cardiomyopathy: an overview. Appl Clin Genet 16:181\u2013203","journal-title":"Appl Clin Genet"},{"key":"3429_CR13","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.ijcard.2021.11.033","volume":"346","author":"JG Lees","year":"2022","unstructured":"Lees JG, Napierala M, P\u00e9bay A, Dottori M, Lim SY (2022) Cellular pathophysiology of Friedreich\u2019s ataxia cardiomyopathy. Int J Cardiol. 346:71\u201378","journal-title":"Int J Cardiol."},{"issue":"3","key":"3429_CR14","doi-asserted-by":"publisher","first-page":"e0116396","DOI":"10.1371\/journal.pone.0116396","volume":"10","author":"AH Koeppen","year":"2015","unstructured":"Koeppen AH, Ramirez RL, Becker AB, Bjork ST, Levi S, Santambrogio P et al (2015) The pathogenesis of cardiomyopathy in Friedreich ataxia. PLoS One. 10(3):e0116396","journal-title":"PLoS One."},{"issue":"4","key":"3429_CR15","doi-asserted-by":"publisher","first-page":"1622","DOI":"10.1016\/j.ijcard.2012.04.159","volume":"167","author":"LS Friedman","year":"2013","unstructured":"Friedman LS, Schadt KA, Regner SR, Mark GE, Lin KY, Sciascia T et al (2013) Elevation of serum cardiac troponin I in a cross-sectional cohort of asymptomatic subjects with Friedreich ataxia. Int J Cardiol 167(4):1622\u20131624","journal-title":"Int J Cardiol"},{"issue":"3","key":"3429_CR16","doi-asserted-by":"publisher","first-page":"e0246633","DOI":"10.1371\/journal.pone.0246633","volume":"16","author":"KAG Takazaki","year":"2021","unstructured":"Takazaki KAG, Quinaglia T, Venancio TD, Martinez ARM, Shah RV, Neilan TG et al (2021) Pre-clinical left ventricular myocardial remodeling in patients with Friedreich\u2019s ataxia: a cardiac MRI study. PLoS One. 16(3):e0246633","journal-title":"PLoS One."},{"issue":"15","key":"3429_CR17","doi-asserted-by":"publisher","first-page":"1123","DOI":"10.1161\/CIRCULATIONAHA.121.058457","volume":"146","author":"AS Lota","year":"2022","unstructured":"Lota AS, Hazebroek MR, Theotokis P, Wassall R, Salmi S, Halliday BP et al (2022) Genetic architecture of acute myocarditis and the overlap with inherited cardiomyopathy. Circulation 146(15):1123\u20131134","journal-title":"Circulation"},{"key":"3429_CR18","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1111\/jnc.12217","volume":"126","author":"F Weidemann","year":"2013","unstructured":"Weidemann F, St\u00f6rk S, Liu D, Hu K, Herrmann S, Ertl G et al (2013) Cardiomyopathy of Friedreich Ataxia. J Neurochem 126:88\u201393","journal-title":"J Neurochem"},{"key":"3429_CR19","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.pcad.2023.08.002","volume":"80","author":"A Del Franco","year":"2023","unstructured":"Del Franco A, Menale S, Chiti C, Biagioni G, Tomberli A, Zampieri M et al (2023) The evolving paradigm and current perception of hypertrophic cardiomyopathy: implications for management. Prog Cardiovasc Dis 80:8\u201313","journal-title":"Prog Cardiovasc Dis"}],"container-title":["Pediatric Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00246-024-03429-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00246-024-03429-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00246-024-03429-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T08:41:08Z","timestamp":1738399268000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00246-024-03429-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,1]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["3429"],"URL":"https:\/\/doi.org\/10.1007\/s00246-024-03429-5","relation":{},"ISSN":["0172-0643","1432-1971"],"issn-type":[{"value":"0172-0643","type":"print"},{"value":"1432-1971","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,1]]},"assertion":[{"value":"26 November 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 January 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 March 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The present work was sponsored by grants from the Friedreich Ataxia Research Alliance to each of the authors.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}