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Epidemiology of malignant hyperthermia in the UK from 1988 to 2025: implications for prevalence, mode of inheritance, relative risk associated with RYR1 genotypes, and in vitro contracture test phenotyping.
British journal of anaesthesia·September 22, 2026·PMID 42850084
Why it mattersCurrent MH genetic testing often assumes autosomal dominant inheritance, but this analysis suggests a threshold model where multiple genetic and environmental factors contribute. This could explain the low penetrance of RYR1 variants and the variable clinical expression, prompting reconsideration of how susceptibility is diagnosed and counselled.
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