“Better Late Than Never”—Late-Onset Genotype-Negative Congenital Long QT Syndrome: Case Report and Review

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL Clinical Case Reports Pub Date : 2025-02-13 DOI:10.1002/ccr3.70201
Clement Tan, Vaikunthan Thanabalasingam, Chaminda Sella Kapu, Zhihua Zhang
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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.

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“迟做总比不做好”——晚发基因型阴性先天性长QT综合征:病例报告和回顾
先天性长QT综合征(LQTS)是一种遗传性疾病,导致QT间期延长,心律失常和心源性猝死的风险增加。由于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。我们提出了一例成功管理的迟发性基因型阴性表型阳性LQTS,表现为心悸,并发多态室性心动过速的单一事件,随后对文献进行了回顾。该病例强调了对先天性长QT综合征,特别是基因型阴性病例的理解存在差距,并强调了对风险评估和有效管理进行持续研究以预防致命心脏事件的必要性。
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来源期刊
Clinical Case Reports
Clinical Case Reports MEDICINE, GENERAL & INTERNAL-
自引率
14.30%
发文量
1268
审稿时长
13 weeks
期刊介绍: Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).
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