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。

IF 2 3区 医学 Q2 PEDIATRICS BMC Pediatrics Pub Date : 2024-11-13 DOI:10.1186/s12887-024-05216-w
Zixi Zhang, Keke Wu, Zhihong Wu, Yunbin Xiao, Yefeng Wang, Qiuzhen Lin, Cancan Wang, Qingyi Zhu, Yichao Xiao, Qiming Liu
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引用次数: 0

摘要

蒂莫西综合征(Timothy Syndrome,TS)是一种以 CACNA1c 基因突变为特征的罕见疾病,本病例报告介绍了为一名 9 岁的蒂莫西综合征患者植入皮下植入式心律转复除颤器(S-ICD)的显著病例。传统疗法对治疗 TS 的疗效往往有限。这个病例意义重大,因为它是中国大陆有记录的年龄最小的 S-ICD 植入患者。虽然住院和随访期间未出现室性心律失常的情况令人鼓舞,但还不足以最终确定这种干预措施对年轻 TS 患者的安全性和可行性。还需要进一步的研究来评估长期疗效,并将 S-ICD 作为 TS 的潜在标准治疗方案。此外,还需要对基因治疗和个性化干预的分子机制进行更详细的探索。
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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.

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来源期刊
BMC Pediatrics
BMC Pediatrics PEDIATRICS-
CiteScore
3.70
自引率
4.20%
发文量
683
审稿时长
3-8 weeks
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.
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