Europäische Multicenter-Studie zur Evaluation gesicherter Maligne Hyperthermie Krisen - Triggersubstanzen und Risikofaktoren
Background: The molecular basis of malignant hyperthermia (MH) is excessive release of Ca2+ via the ryanodine receptor type 1 (RyR1) in skeletal muscle. To identify the variable phenotypic presentation, we analyzed confirmed MH events in terms of clinical course, in vitro contracture test, genetic factors and pharmacological triggers. Methods: A multicenter study with 7 European MH units investigated patients with a history of a clinical MH episode confirmed by susceptible (MHS) or equivocal (MHE) in vitro contracture test (IVCT). Crises were evaluated using a clinical grading scale (CGS), results of IVCT and genetic screening. Results: 200 patients met the inclusion criteria. Two MH crises (1 %) were triggered by SCh (1 MHS, 1 MHE), 18 % by volatile anesthetics and 81 % by a combination of both. 70 % of patients were male; 50 % younger than 12 years old. Overall, CGS was concordant with IVCT results. 103 patients carried RyR1 variants, 13 of them were novel. CGS varied depending on the location of the mutation within the gene. Conclusions: The results show that a MH event may depend on patient related risk factors such as male gender, young age and causative RyR1 mutations as well as on the use of triggering drugs (volatile anesthetics and SCh).
Erstellung / Fertigstellung
Normierte SchlagwörterMaligne Hyperthermie [GND]
Malignant hyperthermia [MeSH]