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“亡羊补牢,为时未晚”——迟发性基因型阴性先天性长QT综合征:病例报告与综述

"Better Late Than Never"-Late-Onset Genotype-Negative Congenital Long QT Syndrome: Case Report and Review.

作者信息

Tan Clement, Thanabalasingam Vaikunthan, Sella Kapu Chaminda, Zhang Zhihua

机构信息

Department of Cardiology, Coronary Care Unit & Cardiac Catheterisation Laboratory Mackay Base Hospital Mackay Queensland Australia.

Jaffna Teaching Hospital Jaffna Sri Lanka.

出版信息

Clin Case Rep. 2025 Feb 13;13(2):e70201. doi: 10.1002/ccr3.70201. eCollection 2025 Feb.

Abstract

Congenital long QT syndrome (LQTS) is a genetic disorder causing prolonged QT intervals and an increased risk of arrhythmias and sudden cardiac death. With 25% of cases lacking known genetic mutations, diagnosis and treatment can be challenging. We present a successfully managed case of late-onset genotype-negative phenotype-positive LQTS presenting as palpitations, complicated by a single event of polymorphic ventricular tachycardia, followed by a review of the literature. This case underscores the gaps in understanding congenital long QT syndrome, especially in genotype-negative cases, and highlights the need for ongoing research for risk assessment and effective management to prevent fatal cardiac events.

摘要

先天性长QT综合征(LQTS)是一种遗传性疾病,可导致QT间期延长,增加心律失常和心源性猝死的风险。25%的病例缺乏已知的基因突变,诊断和治疗可能具有挑战性。我们报告一例成功治疗的迟发性基因型阴性表型阳性LQTS病例,该病例以心悸为表现,并发一次多形性室性心动过速事件,随后进行文献综述。该病例突显了在理解先天性长QT综合征方面的差距,尤其是在基因型阴性的病例中,并强调需要持续开展研究以进行风险评估和有效管理,以预防致命性心脏事件。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/704c/11825374/3f25fe48bb01/CCR3-13-e70201-g001.jpg

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