Jervell and Lange-Nielsen Syndrome (JLNS) in a 13-Year-Old Girl: A Rare Case Report

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL
Masab Ali, Sana Javeriya, Muhammad Husnain Ahmad, Ilsa Babar, Muhammad Maaz Bin Rehan, Hafiza Iman, Humza Saeed
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引用次数: 0

Abstract

JLNS is a rare genetic disorder characterized by congenital sensorineural hearing loss and a prolonged QTc interval, leading to life-threatening arrhythmias. Early diagnosis, beta-blocker therapy, lifestyle modifications, and consideration of ICD surgery are critical in managing sudden cardiac death risk.

13岁女童Jervell - Lange-Nielsen综合征(JLNS)一例罕见病例报告
JLNS是一种罕见的遗传性疾病,以先天性感音神经性听力损失和QTc间隔延长为特征,可导致危及生命的心律失常。早期诊断、β受体阻滞剂治疗、改变生活方式和考虑ICD手术是控制心源性猝死风险的关键。
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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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