癫痫猝死:心脏和神经因素的重叠。

IF 4.1 Q1 CLINICAL NEUROLOGY Brain communications Pub Date : 2024-10-01 eCollection Date: 2024-01-01 DOI:10.1093/braincomms/fcae309
Nathan A Shlobin, Roland D Thijs, David G Benditt, Katja Zeppenfeld, Josemir W Sander
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引用次数: 0

摘要

癫痫患者有过早死亡的风险,其中癫痫猝死(SUDEP)、心脏性猝死(SCD)和心律失常性猝死综合征(SADS)是主要的、部分重叠的临床情况。我们讨论了这些猝死事件的流行病学、风险因素和病理生理机制。我们回顾了有关癫痫猝死的现有证据。猝死的分类取决于尸检情况和临床医生确定病因的专业知识。SUDEP、SCD 和 SADS 的定义有很大的重叠空间。癫痫诱发的心律失常在 SUDEP 病例中占少数。合并心血管疾病是慢性癫痫患者 SCD 风险增加的主要决定因素。两种状态之间存在基因突变重叠,但这些基因突变是致病的、相关的还是偶然出现的往往并不清楚。癫痫患者猝死的风险分层需要采用多学科方法,包括回顾临床病史、毒理学分析以及进行组织学检查和最好是基因检查的完整尸检。我们建议对猝死癫痫患者的亲属进行基因检测,主要是在死后基因检测包含 IV/V 类(致病/可能致病)基因变异的情况下。进一步的研究可以更精确地区分 SUDEP、SCD 和 SADS,并制定风险分层算法和预防策略。
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Sudden death in epilepsy: the overlap between cardiac and neurological factors.

People with epilepsy are at risk of premature death, of which sudden unexpected death in epilepsy (SUDEP), sudden cardiac death (SCD) and sudden arrhythmic death syndrome (SADS) are the primary, partly overlapping, clinical scenarios. We discuss the epidemiologies, risk factors and pathophysiological mechanisms for these sudden death events. We reviewed the existing evidence on sudden death in epilepsy. Classification of sudden death depends on the presence of autopsy and expertise of the clinician determining aetiology. The definitions of SUDEP, SCD and SADS lead to substantial openings for overlap. Seizure-induced arrhythmias constitute a minority of SUDEP cases. Comorbid cardiovascular conditions are the primary determinants of increased SCD risk in chronic epilepsy. Genetic mutations overlap between the states, yet whether these are causative, associated or incidentally present is often unclear. Risk stratification for sudden death in people with epilepsy requires a multidisciplinary approach, including a review of clinical history, toxicological analysis and complete autopsy with histologic and, preferably, genetic examination. We recommend pursuing genetic testing of relatives of people with epilepsy who died suddenly, mainly if a post-mortem genetic test contained a Class IV/V (pathogenic/likely pathogenic) gene variant. Further research may allow more precise differentiation of SUDEP, SCD and SADS and the development of algorithms for risk stratification and preventative strategies.

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