The genetics of malignant hyperthermia

Abstract

Malignant hyperthermia susceptibility remains the commonest cause of death owing to general anaesthesia. This is despite the availability of presymptomatic testing, admittedly by a highly invasive method, and a recognised treatment for implementation immediately a patient shows signs of developing a crisis. Recently the finding of linkage to markers from chromosome 19q13.1-13.2 and the identification of mutations in a candidate gene held out hope of genetic diagnosis being available. However, it is likely that only about 50% of families have a mutation of the skeletal muscle calcium release channel gene. With this degree of genetic heterogeneity, presymptomatic testing based on DNA markers can only be offered at present to a limited number of families where linkage to markers from 19q13.1-13.2 has been clearly shown.