{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T19:57:47Z","timestamp":1780430267557,"version":"3.54.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Clinical Medical Technology Innovation Guidance Project of Hunan Science and Technology Agency","award":["2021SK53519"],"award-info":[{"award-number":["2021SK53519"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070356"],"award-info":[{"award-number":["82070356"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Key Project of Hunan Provincial Science and Technology Innovation","award":["2020SK1013"],"award-info":[{"award-number":["2020SK1013"]}]},{"DOI":"10.13039\/501100004735","name":"Hunan Provincial Natural Science Foundation of China","doi-asserted-by":"crossref","award":["2021JJ30033"],"award-info":[{"award-number":["2021JJ30033"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"DOI":"10.1186\/s12887-024-05216-w","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T04:53:17Z","timestamp":1731473597000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["A case of pioneering subcutaneous implantable cardioverter defibrillator intervention in Timothy syndrome"],"prefix":"10.1186","volume":"24","author":[{"given":"Zixi","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keke","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunbin","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yefeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiuzhen","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cancan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingyi","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yichao","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiming","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,13]]},"reference":[{"issue":"1","key":"5216_CR1","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1002\/ajmg.a.34355","volume":"158A","author":"J Gillis","year":"2012","unstructured":"Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D. Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. Am J Med Genet A. 2012;158A(1):182\u20137.","journal-title":"Am J Med Genet A"},{"key":"5216_CR2","doi-asserted-by":"crossref","unstructured":"Shah SR, Park K, Alweis R, Long QT. Syndrome: a Comprehensive Review of the literature and current evidence. Curr Probl Cardiol. 2019;44(3).","DOI":"10.1016\/j.cpcardiol.2018.04.002"},{"key":"5216_CR3","doi-asserted-by":"crossref","unstructured":"Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005;102(23).","DOI":"10.1073\/pnas.0502506102"},{"issue":"1","key":"5216_CR4","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.cell.2004.09.011","volume":"119","author":"I Splawski","year":"2004","unstructured":"Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004;119(1):19\u201331.","journal-title":"Cell"},{"issue":"8","key":"5216_CR5","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/S1471-4914(01)02089-5","volume":"7","author":"D Sanoudou","year":"2001","unstructured":"Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy\u2013a disease of skeletal muscle thin filaments. Trends Mol Med. 2001;7(8):362\u20138.","journal-title":"Trends Mol Med"},{"issue":"10","key":"5216_CR6","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1038\/nrcardio.2012.93","volume":"9","author":"L Venetucci","year":"2012","unstructured":"Venetucci L, Denegri M, Napolitano C, Priori SG. Inherited calcium channelopathies in the pathophysiology of arrhythmias. Nat Rev Cardiol. 2012;9(10):561\u201375.","journal-title":"Nat Rev Cardiol"},{"key":"5216_CR7","doi-asserted-by":"crossref","unstructured":"Hotka M, Cagalinec M, Hilber K, Hool L, Boehm S, Kubista H. L-type Ca2\u2009+\u2009channel-mediated Ca2\u2009+\u2009influx adjusts neuronal mitochondrial function to physiological and pathophysiological conditions. Sci Signal. 2020;13(618).","DOI":"10.1126\/scisignal.aaw6923"},{"issue":"4","key":"5216_CR8","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1016\/j.jacep.2017.08.007","volume":"4","author":"KA Dufendach","year":"2018","unstructured":"Dufendach KA, Timothy K, Ackerman MJ, Blevins B, Pflaumer A, Etheridge S, Perry J, Blom NA, Temple J, Chowdhury D, Skinner JR, Johnsrude C, Bratincsak A, Bos JM, Shah M. Clinical outcomes and modes of death in Timothy Syndrome: a Multicenter International Study of a rare disorder. JACC Clin Electrophysiol. 2018;4(4):459\u201366.","journal-title":"JACC Clin Electrophysiol"},{"key":"5216_CR9","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/1750-1172-3-18","volume":"3","author":"L Crotti","year":"2008","unstructured":"Crotti L, Celano G, Dagradi F, Schwartz PJ. Congenital long QT syndrome. Orphanet J Rare Dis. 2008;3:18.","journal-title":"Orphanet J Rare Dis"},{"issue":"41","key":"5216_CR10","doi-asserted-by":"publisher","first-page":"2793","DOI":"10.1093\/eurheartj\/ehv316","volume":"36","author":"SG Priori","year":"2015","unstructured":"Priori SG, Blomstr\u00f6m-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, Elliott PM, Fitzsimons D, Hatala R, Hindricks G, Kirchhof P, Kjeldsen K, Kuck K-H, Hernandez-Madrid A, Nikolaou N, Norekv\u00e5l TM, Spaulding C, Van Veldhuisen DJ. 2015 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: the Task Force for the management of patients with ventricular arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J. 2015;36(41):2793\u2013867.","journal-title":"Eur Heart J"},{"issue":"7","key":"5216_CR11","doi-asserted-by":"publisher","first-page":"485","DOI":"10.2459\/JCM.0000000000000395","volume":"17","author":"F Migliore","year":"2016","unstructured":"Migliore F, Silvano M, Zorzi A, Bertaglia E, Siciliano M, Leoni L, De Franceschi P, Iliceto S, Corrado D. Implantable cardioverter defibrillator therapy in young patients with cardiomyopathies and channelopathies: a single Italian centre experience. J Cardiovasc Med (Hagerstown). 2016;17(7):485\u201393.","journal-title":"J Cardiovasc Med (Hagerstown)"},{"key":"5216_CR12","doi-asserted-by":"crossref","unstructured":"Migliore F, Biffi M, Viani S, Pittorru R, Francia P, Pieragnoli P, De Filippo P, Bisignani G, Nigro G, Dello Russo A, Pisan\u00f2 E, Palmisano P, Rapacciuolo A, Silvetti MS, Lavalle C, Curcio A, Rordorf R, Lovecchio M, Valsecchi S, D\u2019Onofrio A, Botto GL. Modern subcutaneous implantable defibrillator therapy in patients with cardiomyopathies and channelopathies: data from a large multicentre registry. Europace. 2023;25(9).","DOI":"10.1093\/europace\/euad239"},{"issue":"5","key":"5216_CR13","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/j.jacc.2023.05.034","volume":"82","author":"MR Gold","year":"2023","unstructured":"Gold MR, El-Chami MF, Burke MC, Upadhyay GA, Niebauer MJ, Prutkin JM, Herre JM, Kutalek S, Dinerman JL, Knight BP, Leigh J, Lucas L, Carter N, Brisben AJ, Aasbo JD, Weiss R. Postapproval Study of a Subcutaneous Implantable Cardioverter-Defibrillator System. J Am Coll Cardiol. 2023;82(5):383\u201397.","journal-title":"J Am Coll Cardiol"},{"key":"5216_CR14","first-page":"3907190","volume":"2019","author":"B Al-Ghamdi","year":"2019","unstructured":"Al-Ghamdi B. Right-sided Subcutaneous Implantable Cardioverter Defibrillator System Implantation in a patient with complex congenital heart Disease and Dextrocardia: a Case Report and Literature Review. Case Rep Cardiol. 2019;2019:3907190.","journal-title":"Case Rep Cardiol"},{"issue":"1","key":"5216_CR15","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1055\/s-0039-1697914","volume":"68","author":"A Ferreiro-Marzal","year":"2020","unstructured":"Ferreiro-Marzal A, Rodr\u00edguez-Serrano F, Esteban-Molina M, Gonz\u00e1lez-Vargas T, Perin F, Garrido JM. Intermuscular S-ICD implantation in Pediatric patients. Thorac Cardiovasc Surg. 2020;68(1):68\u201371.","journal-title":"Thorac Cardiovasc Surg"},{"issue":"FI2","key":"5216_CR16","doi-asserted-by":"publisher","first-page":"f248","DOI":"10.1093\/europace\/euy001","volume":"20","author":"S-Y Kwok","year":"2018","unstructured":"Kwok S-Y, Yam N, Lun K-S, Chen RH, Au TW, Yung T-C. Abdominal submuscular implant of subcutaneous implantable cardioverter-defibrillator in a young child. Europace. 2018;20(FI2):f248.","journal-title":"Europace"},{"issue":"6","key":"5216_CR17","doi-asserted-by":"publisher","first-page":"854","DOI":"10.1111\/jce.13894","volume":"30","author":"F Migliore","year":"2019","unstructured":"Migliore F, Mattesi G, De Franceschi P, Allocca G, Crosato M, Calzolari V, Fantinel M, Ortis B, Facchin D, Daleffe E, Fabris T, Marras E, De Lazzari M, Zanon F, Marcantoni L, Siciliano M, Corrado D, Iliceto S, Bertaglia E, Zecchin M. Multicentre experience with the second-generation subcutaneous implantable cardioverter defibrillator and the intermuscular two-incision implantation technique. J Cardiovasc Electrophysiol. 2019;30(6):854\u201364.","journal-title":"J Cardiovasc Electrophysiol"},{"issue":"2","key":"5216_CR18","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.hrcr.2022.11.009","volume":"9","author":"CM Pearman","year":"2023","unstructured":"Pearman CM, Popal S, Hawkins NM, Andrade JG. Shockingly shiny shoes-inappropriate discharge from a subcutaneous defibrillator. HeartRhythm Case Rep. 2023;9(2):101\u20134.","journal-title":"HeartRhythm Case Rep"},{"issue":"6","key":"5216_CR19","first-page":"274","volume":"10","author":"M Frutos","year":"2010","unstructured":"Frutos M, Pedrote A, Arana E, Sanchez-Brotons J. T-wave oversensing with inappropriate therapy in remote monitoring. Indian Pacing Electrophysiol J. 2010;10(6):274\u20137.","journal-title":"Indian Pacing Electrophysiol J"},{"key":"5216_CR20","doi-asserted-by":"crossref","unstructured":"Sakhi R, Yap S-C, Michels M, Schinkel AFL, Kauling RM, Roos-Hesselink JW, Theuns DAMJ. Evaluation of a novel automatic screening tool for determining eligibility for a subcutaneous implantable cardioverter-defibrillator. Int J Cardiol. 2018;272.","DOI":"10.1016\/j.ijcard.2018.07.037"},{"issue":"12","key":"5216_CR21","doi-asserted-by":"publisher","first-page":"2920","DOI":"10.19102\/icrm.2017.081203","volume":"8","author":"K Do","year":"2017","unstructured":"Do K, Chang P, Konecny T, Carlson SK, Tun H, Huntsinger M, Doshi RN. Predictors of elevated defibrillation threshold with the Subcutaneous Implantable Cardioverter-Defibrillator. J Innov Card Rhythm Manag. 2017;8(12):2920\u20139.","journal-title":"J Innov Card Rhythm Manag"},{"key":"5216_CR22","doi-asserted-by":"crossref","unstructured":"Knops RE, El-Chami MF, Marquie C, Nordbeck P, Quast A-FBE, Tilz RR, Brouwer TF, Lambiase PD, Cassidy CJ, Boersma LVA, Burke MC, Pepplinkhuizen S, de Veld JA, de Weger A, Bracke FALE, Manyam H, Probst V, Betts TR, Bijsterveld NR, Defaye P, Demming T, Elders J, Field DC, Ghani A, Golovchiner G, de Jong JSSG, Lewis N, Marijon E, Martin CA, Miller MA, Shaik NA, van der Stuijt W, Kuschyk J, Olde Nordkamp LRA, Arya A, A.E. Borger van der Burg, Boveda S, van Doorn DJ, Glikson M, Kaiser L, Maass AH, van Woerkens LJPM, Zaidi A, Wilde AAM, Smeding L. Predictive value of the PRAETORIAN score for defibrillation test success in patients with subcutaneous ICD: A subanalysis of the PRAETORIAN-DFT trial, Heart Rhythm. 2024;21(6):836\u2013844.","DOI":"10.1016\/j.hrthm.2024.02.005"},{"issue":"5","key":"5216_CR23","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1002\/joa3.12613","volume":"37","author":"MC Gatto","year":"2021","unstructured":"Gatto MC, De Sanctis V, Percoco F, Persi A, Dominici T, Moretti A, Evangelista F, Mantica M, Kol A. Combined therapy with subcutaneous implantable cardiac defibrillator and leadless pacemaker in a patient with persistent left superior vena cava and mega coronary sinus: a challenging case for the best treatment. J Arrhythm. 2021;37(5):1364\u20137.","journal-title":"J Arrhythm"},{"issue":"2","key":"5216_CR24","doi-asserted-by":"publisher","first-page":"26","DOI":"10.5339\/gcsp.2015.26","volume":"2015","author":"S Baskar","year":"2015","unstructured":"Baskar S, Aziz PF. Genotype-phenotype correlation in long QT syndrome. Glob Cardiol Sci Pract. 2015;2015(2):26.","journal-title":"Glob Cardiol Sci Pract"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-024-05216-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-024-05216-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-024-05216-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T04:54:23Z","timestamp":1731473663000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-024-05216-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,13]]},"references-count":24,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["5216"],"URL":"https:\/\/doi.org\/10.1186\/s12887-024-05216-w","relation":{},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,13]]},"assertion":[{"value":"7 December 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 November 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 November 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":"This study involving the collection and analysis of patient case data was conducted in accordance with ethical principles, and all procedures were carried out following the Declaration of Helsinki. The research protocol and data collection methods were assessed, and it was determined that formal ethics approval was not needed for this case report. The study strictly adhered to patient confidentiality and privacy standards. Written consent was obtained from the parents (also the legal guardians) of the child patient, and all the data were anonymized to ensure the protection of personal information.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed consent was obtained from the patient\u2019s parents (also the legal guardians), who fully understood the study\u2019s purpose and significance. They agreed to the use of their child\u2019s photos, laboratory data, and imaging results for clinical research purposes. All identifying information was removed to protect the patient\u2019s privacy. All the authors participated in the study and made significant intellectual contributions to the manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The patient\u2019s parents (also the legal guardians) consented to the publication of their child\u2019s anonymized data in a globally distributed medical journal. They were informed that the data would be used solely for scientific research by professionals, with no commercial interest or financial benefit to any parties involved, including the authors and the patient\u2019s family. The manuscript is not currently under consideration elsewhere, and the work reported will not be submitted for publication elsewhere until a final decision has been made as to its acceptability by the journal.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Consent for publication was obtained from the patient\u2019s parents.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Patient informed consent"}},{"value":"The authors declare no competing interests.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"729"}}