title: Malignant hyperthermia, a Scandinavian update.
abstract: BACKGROUND
  Malignant Hyperthermia (MH) is a rare pharmacogenetic disorder, triggered by halogenated anesthetics and/or succinylcholine. In susceptible individuals, these drugs can activate an explosive life threatening clinical reaction. Leading symptoms are hypercarbia, muscle rigidity, and metabolic acidosis. MH is inherited in an autosomal-dominant manner and linked to mutations in the large ryanodine 1 gene (RYR1) gene in the majority of cases. Very few MH patients have been found to carry mutations in the CACNA1S gene.
  
  
  METHODS
  For this review a large litterature search was carried out and the Swedish MH database consisting of 436 probands who have undergone in vitro muscle contraction test (IVCT) during 1984-2014 was analyzed.
  
  
  RESULTS
  Twelve different MH causative mutations have been found in Swedish patients so far. These mutations lead to a disturbed calcium balance in striated muscle tissue. A muscle biopsy for the IVCT or finding of an approved causative mutation are required for the diagnosis.
  
  
  CONCLUSIONS
  A Malignant Hyperthermia susceptible (MHS) patient should be anesthetized with trigger-free anesthesia. There are a few reports of MH-like reactions in patients unrelated to anesthesia. The outcome is dependent on early recognizing of the reaction and fast disconnection of the trigger agents and administration of dantrolene.
authors.affiliation: Perioperative and Intensive Care, Skåne University Hospital, Lund, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Broman
authors.affiliation: Perioperative and Intensive Care, Skåne University Hospital, Lund, Sweden.
authors.forename: G
authors.initials: G
authors.lastname: Islander
authors.affiliation: Biocentre, Institute for Human Genetics, Würzburg University, Würzburg, Germany.
authors.forename: C R
authors.initials: CR
authors.lastname: Müller
mesh_terms: D000758:Anesthesia / Q000379:methods*; D006801:Humans; D008305:Malignant Hyperthermia / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D012042:Registries; D013548:Sweden