title: [Malignant hyperthermia as a complication of anesthesia: predisposition is hereditary].
abstract: The frequency of malignant hyperthermia in the Netherlands is about 1 in 200,000 anaesthesias. Five times a year, an anaesthetic procedure will be complicated by a malignant hyperthermic metabolic disturbance, which can cause death if treatment is not instituted rapidly, by the administration of dantrolene. Suxamethonium and all the anaesthetic vapours can trigger such a reaction. Malignant hyperthermia patients are healthy patients who have a mutation of the ryanodine receptor gene RYR. Predisposition to malignant hyperthermia is inherited as an autosomal dominant condition. So far a genetic malignant hyperthermia test is not available because of genetic heterogeneity. The in-vitro contracture test in skeletal muscle is currently used as a diagnostic test for malignant hyperthermia. Patients who are likely to be at risk based on a clinical grading score, and family members with at least a 25% chance of inheriting malignant hyperthermia, are eligible for this test.
authors.affiliation: Afd. Anesthesiologie, Academisch Ziekenhuis, Nijmegen.
authors.forename: M M
authors.initials: MM
authors.lastname: Snoeck
authors.forename: M J
authors.initials: MJ
authors.lastname: Gielen
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
authors.forename: G W
authors.initials: GW
authors.lastname: Padberg
authors.forename: D E
authors.initials: DE
authors.lastname: Iles
authors.forename: L H
authors.initials: LH
authors.lastname: Booij
mesh_terms: D015220:Calcium Channels / Q000235:genetics; D002148:Calmodulin-Binding Proteins / Q000235:genetics; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006801:Humans; D008305:Malignant Hyperthermia / Q000175:diagnosis / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics; D017354:Point Mutation; D019837:Ryanodine Receptor Calcium Release Channel
chemical_list: D015220:Calcium Channels; D002148:Calmodulin-Binding Proteins; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel