{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T21:49:33Z","timestamp":1773956973906,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,6,22]],"date-time":"2023-06-22T00:00:00Z","timestamp":1687392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in the <jats:italic>TTN<\/jats:italic> gene, encoding the muscle filament titin, are a major cause of inherited dilated cardiomyopathy. Early\u2010onset skeletal muscle disorders due to recessive <jats:italic>TTN<\/jats:italic> mutations have recently been described, sometimes associated with cardiomyopathies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Description<\/jats:title><jats:p>We report the case of a boy with congenital core myopathy due to compound heterozygosity for <jats:italic>TTN<\/jats:italic> variants. He presented in infancy with rapidly evolving restrictive cardiomyopathy, requiring heart transplantation at the age of 5\u2009years with favorable long\u2010term cardiac and neuromuscular outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Heart transplantation may have a role in selected patients with <jats:italic>TTN<\/jats:italic>\u2010related congenital myopathy with disproportionally severe cardiac presentation compared to skeletal and respiratory muscle involvement.<\/jats:p><\/jats:sec>","DOI":"10.1111\/petr.14561","type":"journal-article","created":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T18:36:18Z","timestamp":1687631778000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Successful heart transplant in a child with congenital core myopathy and delayed\u2010onset restrictive cardiomyopathy due to recessive mutations in the titin (<i>TTN<\/i>) gene"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5408-1107","authenticated-orcid":false,"given":"Julie","family":"Wacker","sequence":"first","affiliation":[{"name":"Pediatric Cardiology Unit, University Hospitals of Geneva, Faculty of Medicine University of Geneva  Geneva Switzerland"},{"name":"Centre Universitaire Romand de Cardiologie et Chirurgie Cardiaque P\u00e9diatrique University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Di\u00a0Bernardo","sequence":"additional","affiliation":[{"name":"Centre Universitaire Romand de Cardiologie et Chirurgie Cardiaque P\u00e9diatrique University Hospitals of Geneva  Geneva Switzerland"},{"name":"Pediatric Cardiology, Department of Pediatrics Lausanne University Hospital  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes Alexander","family":"Lobrinus","sequence":"additional","affiliation":[{"name":"Neuropathology Unit, Department of Clinical Pathology University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Neuromuscular Service, Evelina's Children Hospital, Guy's &amp; St. Thomas' Hospital NHS Foundation Trust  London UK"},{"name":"Randall Centre for Cell and Molecular Biophysics, King's College London BHF Centre of Research Excellence  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathias","family":"Gautel","sequence":"additional","affiliation":[{"name":"Randall Centre for Cell and Molecular Biophysics, King's College London BHF Centre of Research Excellence  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1841-0927","authenticated-orcid":false,"given":"Maurice","family":"Beghetti","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, University Hospitals of Geneva, Faculty of Medicine University of Geneva  Geneva Switzerland"},{"name":"Centre Universitaire Romand de Cardiologie et Chirurgie Cardiaque P\u00e9diatrique University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joel","family":"Fluss","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, University Hospitals of Geneva, Faculty of Medicine University of Geneva  Geneva Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.106.5.1563"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/jeb.124941"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000117769.88862.F8"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1110186"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00059-019-4825-4"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2013.11.037"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000850"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25241"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-020-02257-0"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a6ca62"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0914-2"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt494"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21089"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3010134"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.191"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14365"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.01.009"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btx424"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190423"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2017.4899"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00045-0"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2009.08.030"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-012-0258-z"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000526"}],"container-title":["Pediatric Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/petr.14561","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T13:01:11Z","timestamp":1725627671000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/petr.14561"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,22]]},"references-count":24,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1111\/petr.14561"],"URL":"https:\/\/doi.org\/10.1111\/petr.14561","archive":["Portico"],"relation":{},"ISSN":["1397-3142","1399-3046"],"issn-type":[{"value":"1397-3142","type":"print"},{"value":"1399-3046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,22]]},"assertion":[{"value":"2023-04-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e14561"}}