TRPM4突变患者的短偶联心室颤动。

Q3 Medicine
Sriram Easwaran , Vedica Sethi , Vijay Surampalli , Yash Lokhandwala
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引用次数: 0

摘要

遗传性通道病是结构正常的心脏晕厥的一个原因,在基线心电图上有细微的体征,但有时这些体征可能不存在。诱发因素可能是心动过速或缓慢性心律失常,需要及时诊断和治疗。其中一个原因是短偶联性心室颤动(VF),其中基线心电图有正常的校正QT间期(QTc),在ECG上注意到多个心室过早复合体(VPCs),特别是在晕厥事件发生前后。编码瞬时受体电位美拉他汀4离子通道的TRPM4基因,目前是一种意义未知的变异,是一种钙激活通道,参与窦房结舒张期去极化的调节。该基因的功能丧失突变可表现为传导障碍引起的慢性心律失常或心房心律失常。我们提出了一例难治性短偶联VF与共存的速brady综合征,归因于TRPM4突变。尽管有抗心律失常治疗和植入式心律转复除颤器(ICD),但患者仍存在顽固性室性颤动,由于无法获得奎宁而给予奎宁,导致症状明显缓解。本病例强调了管理室性心律失常的复杂性,并强调了奎宁在某些情况下的潜在治疗作用,在无法获得奎宁的情况下,为这些具有挑战性的疾病提供个性化治疗方法的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Short coupled Ventricular Fibrillation in a patient with TRPM4 mutation
Inherited channelopathies are a cause of syncope in a structurally normal heart with subtle signs on baseline ECG, but sometimes these signs may be absent. The precipitant may either be a tachy or a bradyarrhythmia needing prompt diagnosis and treatment institution. One such cause is short coupled Ventricular fibrillation (VF) where the baseline ECG has a normal corrected QT interval (QTc) with multiple Ventricular Premature Complexes (VPCs) noted in the ECG especially around an event of syncope. The TRPM4 gene, encoding the Transient Receptor Potential Melastatin 4 ion channel, currently a variant of unknown significance is a calcium activated channel which is involved in regulation of the diastolic depolarization in the Sinoatrial (SA) node. Loss of function mutation of the gene may present as bradyarrhythmias or atrial arrhythmias due to conduction disturbances. We present a case of intractable short coupled VF with a coexistent tachy-brady syndrome, attributed to TRPM4 mutation. Due to persistent intractable VF despite antiarrhythmic therapy and implantable cardioverter-defibrillator (ICD), patient was given quinine instead of quinidine due to non-availability of the same, which led to significant alleviation of symptoms. This case underscores the complexity of managing ventricular arrhythmias and highlights the potential therapeutic role of quinine in select cases, in the scenario of unavailability of quinidine, offering insights into personalized treatment approaches for these challenging conditions.
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来源期刊
Indian Pacing and Electrophysiology Journal
Indian Pacing and Electrophysiology Journal Medicine-Cardiology and Cardiovascular Medicine
CiteScore
2.20
自引率
0.00%
发文量
91
审稿时长
61 days
期刊介绍: Indian Pacing and Electrophysiology Journal is a peer reviewed online journal devoted to cardiac pacing and electrophysiology. Editorial Advisory Board includes eminent personalities in the field of cardiac pacing and electrophysiology from Asia, Australia, Europe and North America.
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