Department of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, 139 Renmin Road, Furong District, Changsha, 410011, Hunan Province, People's Republic of China.
Department of Cardiology, Hunan Children's Hospital, Central South University, Changsha, Hunan Province, People's Republic of China.
BMC Pediatr. 2024 Nov 13;24(1):729. doi: 10.1186/s12887-024-05216-w.
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.
本病例报告介绍了一例 Timothy 综合征(TS)患儿成功植入皮下植入式心律转复除颤器(S-ICD)的罕见病例。TS 是一种由 CACNA1c 基因突变引起的罕见疾病,传统治疗方法往往疗效有限。本例意义重大,因为这是中国大陆记录到的接受 S-ICD 植入术的患者中年龄最小的。尽管患者在住院期间和随访期间没有出现室性心律失常是令人鼓舞的,但这还不足以确定该干预措施在年轻 TS 患者中的安全性和可行性。需要进一步的研究来评估长期结果,并考虑将 S-ICD 作为 TS 的一种潜在标准治疗选择。此外,还需要更详细地探讨基因治疗和个体化干预的分子机制。