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Malignant hyperthermia, a Scandinavian update
Author(s) -
Broman M.,
Islander G.,
Müller C. R.
Publication year - 2015
Publication title -
acta anaesthesiologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.738
H-Index - 107
eISSN - 1399-6576
pISSN - 0001-5172
DOI - 10.1111/aas.12541
Subject(s) - malignant hyperthermia , ryr1 , medicine , dantrolene , muscle rigidity , muscle biopsy , anesthesia , metabolic acidosis , proband , ryanodine receptor , central core disease , hypercarbia , myoglobinuria , muscle cramp , biopsy , rhabdomyolysis , acidosis , calcium , gene , mutation , genetics , biology
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 ( RYR 1) gene in the majority of cases. Very few MH patients have been found to carry mutations in the CACNA 1S 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. Conclusion 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.