Review Articles
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility

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Abstract

It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for the laboratory diagnosis of malignant hyperthermia susceptibility from the European Malignant Hyperthermia Group. This has subsequently been used in more than 10 000 individuals worldwide to inform use of anaesthetic drugs in these patients with increased risk of developing malignant hyperthermia during general anaesthesia, representing an early and successful example of stratified medicine. In 2001, our group also published a guideline for the use of DNA-based screening of malignant hyperthermia susceptibility. We now present an updated and complete guideline for the diagnostic pathway for patients potentially at increased risk of developing malignant hyperthermia. We introduce the new guideline with a narrative commentary that describes its development, the changes to previously published protocols and guidelines, and new sections, including recommendations for patient referral criteria and clinical interpretation of laboratory findings.

Key words

CACNA1S
excitation–contraction coupling
malignant hyperthermia
malignant hyperthermia susceptibility, diagnosis
RYR1
skeletal muscle

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Contributors to the guidelines from member laboratories of the European Malignant Hyperthermia Group are listed in Appendix 3.