title: [Diagnosis of susceptibility for malignant hyperthermia using in-vitro muscle contraction testing in Switzerland].
abstract: Malignant hyperthermia is a potentially fatal pharmacogenetic disorder triggered by volatile anesthetics (halothane, enflurane, isoflurane) and/or succinylcholine. The inheritance of malignant hyperthermia susceptibility is thought to be autosomal dominant and the incidence could be as high as 1:10,000. The only generally accepted diagnostic method at present involves a muscle biopsy followed by in-vitro halothane and caffeine contracture tests. 100 individuals from 45 families who were considered to be potentially malignant hyperthermia-susceptible were investigated from 1986 to 1990 by in-vitro muscle contracture tests using the protocol of the European Malignant Hyperthermia Group. Of 45 families analyzed, 28 had at least one person who was susceptible to malignant hyperthermia with a total of 64 malignant hyperthermia-susceptible individuals. 36 subjects in the 45 families were normal. In addition, our study shows that a femoral nerve block can be used in outpatients as a reliable anesthetic technique to perform biopsies from the vastus medialis muscle for malignant hyperthermia screening.
authors.affiliation: Departemente Anästhesie, Chirurgie und Forschung, Kantonsspitals und Kinderspitals Basel.
authors.forename: A
authors.initials: A
authors.lastname: Urwyler
authors.forename: K
authors.initials: K
authors.lastname: Censier
authors.forename: M D
authors.initials: MD
authors.lastname: Seeberger
authors.forename: J
authors.initials: J
authors.lastname: Drewe
authors.forename: J M
authors.initials: JM
authors.lastname: Rothenbühler
authors.forename: F
authors.initials: F
authors.lastname: Frei
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D002110:Caffeine / Q000494:pharmacology; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006221:Halothane / Q000494:pharmacology; D006801:Humans; D066298:In Vitro Techniques; D008297:Male; D008305:Malignant Hyperthermia / Q000175:diagnosis* / Q000503:physiopathology; D008875:Middle Aged; D009119:Muscle Contraction / Q000187:drug effects*; D009132:Muscles / Q000473:pathology
chemical_list: D002110:Caffeine; D006221:Halothane
vernacular_title: Diagnose der Maligne-Hyperthermie-Empfindlichkeit mittels In-vitro-Muskelkontrakturtestung in der Schweiz.