Das Debasish, Mohanty Satyapriya
Cardiology, All India Institute of Medical Sciences, Bhubaneswar, Bhubaneswar, IND.
Cardiothoracic Surgery, All India Institute of Medical Sciences, Bhubaneswar, Bhubaneswar, IND.
Cureus. 2023 Feb 8;15(2):e34762. doi: 10.7759/cureus.34762. eCollection 2023 Feb.
Here, we report a rare case of a three-year-old boy with Jervell and Lange-Nielsen (JLN) syndrome who presented with two episodes of nocturnal agonal gasp provoked by fever mimicking syncope in the last six months with a history of sudden cardiac death in one elderly sibling. Interestingly, an electrocardiogram (EKG) revealed macro T-wave alternans (TWA) indicative of a high risk of malignant ventricular arrhythmia in the form of ventricular fibrillation and sudden cardiac death. TWA in JLN syndrome has not been described in the global literature so far. Our case is unique and the first to describe macro TWA in JLN syndrome and is a teaching point to young cardiologists to always look for macro TWA in the EKG of long QT syndrome for risk stratification, management, and, most importantly, avoiding the risk of sudden cardiac death.
在此,我们报告一例罕见的三岁男孩,患有耶尔韦尔和朗格-尼尔森(JLN)综合征。在过去六个月里,他因发热引发了两次夜间濒死喘息,类似晕厥,且有一位年长同胞有心脏性猝死病史。有趣的是,心电图(EKG)显示出明显的T波交替(TWA),这表明存在发生心室颤动和心脏性猝死等恶性室性心律失常的高风险。迄今为止,全球文献中尚未有关于JLN综合征中TWA的描述。我们的病例独一无二,是首个描述JLN综合征中明显TWA的病例,对于年轻心脏病专家来说具有教学意义,提醒他们在长QT综合征的心电图中始终留意明显TWA,以便进行风险分层、管理以及最重要的是避免心脏性猝死风险。