Epidemiological and clinical features of malignant hyperthermia: A scoping review

Clin Genet. 2024 Mar;105(3):233-242. doi: 10.1111/cge.14475. Epub 2023 Dec 26.

Abstract

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.

Keywords: clinical features; clinical signs; epidemiology; malignant hyperthermia; risk factors.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Malignant Hyperthermia* / diagnosis
  • Malignant Hyperthermia* / epidemiology
  • Malignant Hyperthermia* / genetics
  • Risk Assessment
  • Risk Factors
  • Ryanodine Receptor Calcium Release Channel / genetics

Substances

  • Ryanodine Receptor Calcium Release Channel