Epidemiology of malignant hyperthermia in the UK 1988-2025: implications for prevalence, mode of inheritance, relative risk associated with RYR1 genotypes and in vitro contracture test phenotype

IF 10.3 1区医学 Q1 ANESTHESIOLOGY

British journal of anaesthesia Pub Date : 2026-09-22 DOI:10.1016/j.bja.2026.08.048

Essameldeen M. Aboelsaod, Catherine Daly, Nickla Fisher, Sarah Hobson, Huw Garland, Pawan K. Gupta, Jonathan G. Bilmen, Sarah Shepherd, Rachel L. Robinson, Marie-Anne Shaw, Philip M. Hopkins

引用次数: 0

Abstract

We used clinical and genetic data from the UK to analyse the disparity between the incidence of malignant hyperthermia (MH) reactions and the prevalence of variants in the RYR1 gene associated with susceptibility to MH. We examined whether these data are consistent with the clinical risk of MH being inherited as an autosomal dominant trait.

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1988-2025年英国恶性高热的流行病学：患病率、遗传模式、与RYR1基因型和体外挛缩试验表型相关的相对风险的含义

我们使用来自英国的临床和遗传数据来分析恶性高热（MH）反应发生率与与MH易感性相关的RYR1基因变异流行率之间的差异。我们检查了这些数据是否与MH作为常染色体显性性状遗传的临床风险一致。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

British journal of anaesthesia 医学-麻醉学

CiteScore

13.50

自引率

7.10%

发文量

488

审稿时长

27 days

期刊介绍： The British Journal of Anaesthesia (BJA) is a prestigious publication that covers a wide range of topics in anaesthesia, critical care medicine, pain medicine, and perioperative medicine. It aims to disseminate high-impact original research, spanning fundamental, translational, and clinical sciences, as well as clinical practice, technology, education, and training. Additionally, the journal features review articles, notable case reports, correspondence, and special articles that appeal to a broader audience. The BJA is proudly associated with The Royal College of Anaesthetists, The College of Anaesthesiologists of Ireland, and The Hong Kong College of Anaesthesiologists. This partnership provides members of these esteemed institutions with access to not only the BJA but also its sister publication, BJA Education. It is essential to note that both journals maintain their editorial independence. Overall, the BJA offers a diverse and comprehensive platform for anaesthetists, critical care physicians, pain specialists, and perioperative medicine practitioners to contribute and stay updated with the latest advancements in their respective fields.