Background: Malignant hyperthermia is a rare and possibly life-threatening complication to anaesthesia. It manifests in susceptible individuals as a hypermetabolic response on exposure to halogenated anaesthetics and depolarising muscle relaxants. Susceptibility to malignant hyperthermia is inherited as an autosomal dominant disorder and is associated with myopathies.
Material and methods: We present a Norwegian family with central core disease and malignant hyperthermia susceptibility. A novel mutation (c.14558C>T) in the ryanodine receptor gene (RYR1), causing an amino acid change of a highly conserved residue (Thr4853Ile), has been identified in this family. We present a review of the literature on this disorder.
Results and interpretation: Modern medical treatment, including the use of dantrolene, has significantly reduced the mortality of malignant hyperthermia. The identification of susceptibility to malignant hyperthermia in patients can possibly further reduce the risk of death during and after anaesthesia. A contracture test of muscular tissue is performed in patients with suspected malignant hyperthermia and should be considered in family members. Molecular genetic examinations might be considered in some cases.