Malignant hyperthermia (MH) is a potentially fatal inherited pharmacogenetic disorder related to pathogenic variants in the RYR1, CACNA1S, or STAC3 genes. Early recognition of the occurrence of MH and prompt medical treatment are indispensable to ensure a positive outcome. The purpose of this study was to provide valuable information for the early identification of MH by summarizing epidemiological and clinical features of MH. This scoping review followed the methodological framework recommended by Arksey and O'Malley. PubMed, Embase, and Web of science databases were searched for studies that evaluated the epidemical and clinical characteristics of MH. A total of 37 studies were included in this review, of which 26 were related to epidemiology and 24 were associated with clinical characteristics. The morbidity of MH varied from 0.18 per 100 000 to 3.9 per 100 000. The mortality was within the range of 0%–18.2%. Identified risk factors included sex, age, disorders associated with MH, and others. The most frequent initial clinical signs included hyperthermia, sinus tachycardia, and hypercarbia. The occurrence of certain signs, such as hypercapnia, delayed first temperature measurement, and peak temperature were associated with poor outcomes. The epidemiological and clinical features of MH varied considerably and some risk factors and typical clinical signs were identified. The main limitation of this review is that the treatment and management strategies were not assessed sufficiently due to limited information.

中文翻译：

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恶性高热的流行病学和临床特征：范围审查

恶性高热 (MH) 是一种潜在致命的遗传性药物遗传学疾病，与RYR1、CACNA1S或STAC3基因的致病性变异有关。早期识别 MH 的发生并及时接受治疗对于确保积极的结果至关重要。本研究旨在通过总结MH的流行病学和临床特征，为MH的早期识别提供有价值的信息。本次范围界定审查遵循 Arksey 和 O'Malley 推荐的方法框架。在 PubMed、Embase 和 Web of science 数据库中检索了评估 MH 流行和临床特征的研究。本次综述共纳入37项研究，其中26项与流行病学相关，24项与临床特征相关。 MH的发病率从每10万人0.18人到每10万人3.9人不等。死亡率在0%~18.2%之间。已确定的危险因素包括性别、年龄、与 MH 相关的疾病等。最常见的初始临床症状包括高热、窦性心动过速和高碳酸血症。某些体征的出现，例如高碳酸血症、首次体温测量延迟和峰值体温，与不良结果相关。 MH 的流行病学和临床特征差异很大，并确定了一些危险因素和典型的临床症状。本次审查的主要局限性是由于信息有限，没有对治疗和管理策略进行充分评估。