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Review
. 2007 Apr 24:2:21.
doi: 10.1186/1750-1172-2-21.

Malignant hyperthermia

Affiliations
Review

Malignant hyperthermia

Henry Rosenberg et al. Orphanet J Rare Dis. .

Abstract

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in humans, to stresses such as vigorous exercise and heat. The incidence of MH reactions ranges from 1:5,000 to 1:50,000-100,000 anesthesias. However, the prevalence of the genetic abnormalities may be as great as one in 3,000 individuals. MH affects humans, certain pig breeds, dogs, horses, and probably other animals. The classic signs of MH include hyperthermia to marked degree, tachycardia, tachypnea, increased carbon dioxide production, increased oxygen consumption, acidosis, muscle rigidity, and rhabdomyolysis, all related to a hypermetabolic response. The syndrome is likely to be fatal if untreated. Early recognition of the signs of MH, specifically elevation of end-expired carbon dioxide, provides the clinical diagnostic clues. In humans the syndrome is inherited in autosomal dominant pattern, while in pigs in autosomal recessive. The pathophysiologic changes of MH are due to uncontrolled rise of myoplasmic calcium, which activates biochemical processes related to muscle activation. Due to ATP depletion, the muscle membrane integrity is compromised leading to hyperkalemia and rhabdomyolysis. In most cases, the syndrome is caused by a defect in the ryanodine receptor. Over 90 mutations have been identified in the RYR-1 gene located on chromosome 19q13.1, and at least 25 are causal for MH. Diagnostic testing relies on assessing the in vitro contracture response of biopsied muscle to halothane, caffeine, and other drugs. Elucidation of the genetic changes has led to the introduction, on a limited basis so far, of genetic testing for susceptibility to MH. As the sensitivity of genetic testing increases, molecular genetics will be used for identifying those at risk with greater frequency. Dantrolene sodium is a specific antagonist of the pathophysiologic changes of MH and should be available wherever general anesthesia is administered. Thanks to the dramatic progress in understanding the clinical manifestation and pathophysiology of the syndrome, the mortality from MH has dropped from over 80% thirty years ago to less than 5%.

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References

    1. Larach MG, Localio AR, Allen GC, Denborough MA, Ellis FR, Gronert GA, Kaplan RF, Muldoon SM, Nelson TE, Ording H, et al. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology. 1994;80:771–779. doi: 10.1097/00000542-199404000-00008. - DOI - PubMed
    1. Chamley D, Pollock AN, K.M. S, Brown RL. Malignant Hyperthermia in Infancy and Identification of a novel RYR1 mutation. British journal of Anaesthesia. 2000;84:500–504. - PubMed
    1. Ording H. Incidence of malignant hyperthermia in Denmark. Anesth Analg. 1985;64:700–704. - PubMed
    1. Mauritz W, Hackl W, Winkler M, Sporn P, Steinbereithner K. Anesthesia in malignant hyperthermia susceptible patients. Acta Anaesthesiol Belg. 1990;41:87–94. - PubMed
    1. Robinson RL, Curran JL, Ellis FR, Halsall PJ, Hall WJ, Hopkins PM, Iles DE, West SP, Shaw MA. Multiple interacting gene products may influence susceptibility to malignant hyperthermia. Ann Hum Genet. 2000;64:307–320. doi: 10.1046/j.1469-1809.2000.6440307.x. - DOI - PubMed

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