{"title":"蒂莫西综合征皮下植入式心律转复除颤器介入治疗先驱病例。","authors":"Zixi Zhang, Keke Wu, Zhihong Wu, Yunbin Xiao, Yefeng Wang, Qiuzhen Lin, Cancan Wang, Qingyi Zhu, Yichao Xiao, Qiming Liu","doi":"10.1186/s12887-024-05216-w","DOIUrl":null,"url":null,"abstract":"<p><p>This case report presents a notable instance of subcutaneous implantable cardioverter defibrillator (S-ICD) implantation in a 9-year-old patient diagnosed with Timothy syndrome (TS), which is a rare condition characterized by mutations in the CACNA1c gene. Conventional therapies often have limited efficacy in managing TS. This case is significant, as it represents the youngest age for S-ICD implantation recorded in mainland China. While the absence of ventricular arrhythmias during hospitalization and follow-up is encouraging, it is not sufficient to conclusively establish the safety and feasibility of this intervention in young TS patients. Further research is needed to evaluate the long-term outcomes and to consider S-ICD as a potential standard treatment option for TS. Additionally, there is a need for a more detailed exploration of the molecular mechanisms underlying gene therapy and personalized interventions.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0000,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558885/pdf/","citationCount":"0","resultStr":"{\"title\":\"A case of pioneering subcutaneous implantable cardioverter defibrillator intervention in Timothy syndrome.\",\"authors\":\"Zixi Zhang, Keke Wu, Zhihong Wu, Yunbin Xiao, Yefeng Wang, Qiuzhen Lin, Cancan Wang, Qingyi Zhu, Yichao Xiao, Qiming Liu\",\"doi\":\"10.1186/s12887-024-05216-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>This case report presents a notable instance of subcutaneous implantable cardioverter defibrillator (S-ICD) implantation in a 9-year-old patient diagnosed with Timothy syndrome (TS), which is a rare condition characterized by mutations in the CACNA1c gene. Conventional therapies often have limited efficacy in managing TS. This case is significant, as it represents the youngest age for S-ICD implantation recorded in mainland China. While the absence of ventricular arrhythmias during hospitalization and follow-up is encouraging, it is not sufficient to conclusively establish the safety and feasibility of this intervention in young TS patients. Further research is needed to evaluate the long-term outcomes and to consider S-ICD as a potential standard treatment option for TS. Additionally, there is a need for a more detailed exploration of the molecular mechanisms underlying gene therapy and personalized interventions.</p>\",\"PeriodicalId\":9144,\"journal\":{\"name\":\"BMC Pediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-11-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558885/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMC Pediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s12887-024-05216-w\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12887-024-05216-w","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
A case of pioneering subcutaneous implantable cardioverter defibrillator intervention in Timothy syndrome.
This case report presents a notable instance of subcutaneous implantable cardioverter defibrillator (S-ICD) implantation in a 9-year-old patient diagnosed with Timothy syndrome (TS), which is a rare condition characterized by mutations in the CACNA1c gene. Conventional therapies often have limited efficacy in managing TS. This case is significant, as it represents the youngest age for S-ICD implantation recorded in mainland China. While the absence of ventricular arrhythmias during hospitalization and follow-up is encouraging, it is not sufficient to conclusively establish the safety and feasibility of this intervention in young TS patients. Further research is needed to evaluate the long-term outcomes and to consider S-ICD as a potential standard treatment option for TS. Additionally, there is a need for a more detailed exploration of the molecular mechanisms underlying gene therapy and personalized interventions.
期刊介绍:
BMC Pediatrics is an open access journal publishing peer-reviewed research articles in all aspects of health care in neonates, children and adolescents, as well as related molecular genetics, pathophysiology, and epidemiology.