Malignant hyperthermia – state of knowledge
DOI:
https://doi.org/10.12775/JEHS.2022.12.09.102Keywords
malignant hyperthermia, ryanodine receptor, succinylocholine, anestheticsAbstract
Malignant hyperthermia (MH) is a relatively rare, but potentially lethal genetic disorder. That disease is characterized by hypermetabolic response of the skeletal muscles caused by exposure to triggering agents e.g. volatile anesthetics or depolarizing neuromuscular blockers.
The object of this article was to review and assess the most recent published works about the epidemiology, etiology, pathomechanism, therapy of the MH and the new advances in all these fields.
Authors scrutinized PubMed and Google Scholar using keywords: malignant hyperthermia, volatile anesthetics, ryanodine receptor mutation. In addition to this, the references of chosen articles were manually scoured for supplementary applicable articles. The literature was selected on the basis of a general medicine readership and prioritized clinical practice guidelines, systematic reviews and case reports.
The references include the latest reports on malignant hyperthermia, apart from works of historical importance.
Available treatment methods consist mainly of pharmacotherapy, symptomatic treatment and monitoring of vital parameters. Dantrolene is a first-choice drug in initial treatment of MH and is considered the only specific antidote.
In spite of the constant advances in the areas of medicine there is still much to be discovered about MH. Further studies are necessary, as the amount of credible evidence is not adequate.
References
Mullins MF. Malignant Hyperthermia: A Review. J Perianesthesia Nurs. 2018;33(5):582–9.
Bandschapp O, Girard T. Malignant hyperthermia. Swiss Med Wkly. 2012;142(JULY).
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Malignant hyperthermia: a review. Orphanet J Rare Dis. 2015;10(1):1–19.
Gregory H, Weant KA. Pathophysiology and treatment of malignant hyperthermia. Adv Emerg Nurs J. 2021;43(2):102–10.
Britt BA. History of Malignant Hyperthermia. Malig Hyperth. 1996;3–17.
Denborough MA, Forster JFA, Lovell RRH, Maplestone PA. Brit. J. Anaesth. (1962), 34, 395 ANAESTHETIC DEATHS IN A FAMILY. 1962;395–6.
Riazi S, Kraeva N, Hopkins PM. Updated guide for the management of malignant hyperthermia. Can J Anesth. 2018;65(6):709–21.
Lu Z, Rosenberg H, Li G. Prevalence of malignant hyperthermia diagnosis in hospital discharge records in California, Florida, New York, and Wisconsin. J Clin Anesth [Internet]. 2017;39:10–4. Available from: http://dx.doi.org/10.1016/j.jclinane.2017.03.016
Riazi S, Kraeva N, Hopkins PM. Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept. Anesthesiology. 2018;128(1):160–80.
Gonsalves SG, Ng D, Johnston JJ, Teer JK, S Tenson PD, Cooper DN, Mullikin JC, Biesecker LG. Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013;119(5):1043–53.
Rosenberg H, Davis M, James D, Pollock N, Stowell K. Malignant hyperthermia. Orphanet J Rare Dis. 2007;2(1):1–14.
Kim KSM, Kriss RS, Tautz TJ. Malignant Hyperthermia: A Clinical Review. Adv Anesth. 2019;37:35–51.
Larach MG, Gronert GA, Allen GC, Brandom BW, Lehman EB. Clinical presentation, treatment, and complications of malignant hyperthermia in North America from 1987 to 2006. Anesth Analg. 2010;110(2):498–507.
Carpenter D, Robinson RL, Quinnell RJ, Ringrose C, Hogg M, Casson F, Booms P, Iles DE, Halsall PJ, Steele DS, Shaw MA, Hopkins PM. Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009;103(4):538–48.
Hopkins PM, Gupta PK, Bilmen JG. Malignant hyperthermia. 1st ed. Vol. 157, Handbook of Clinical Neurology. Elsevier B.V.; 2018. 645–661 p.
Tammaro A, Di Martino A, Bracco A, Cozzolino S, Savoia G, Andria B, Cannavo A, Spagnuolo M, Piluso G, Aurino S, Nigro V. Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011;79(5):438–47.
Lopez RJ, Byrne S, Vukcevic M, Sekulic-Jablanovic M, Xu L, Brink M, Alamelu J, Voermans N, Snoeck M, Clement E, Muntoni F, Zhou H, Radunovic A, Mohammed S, Wraige E, Zorzato F, Treves S, Jungbluth H. An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. Sci Signal. 2016;9(435):1–10.
Gillies RL, Bjorksten AR, Du Sart D, Hockey BM. Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. Anaesth Intensive Care. 2015;43(2):157–66.
Beam TA, Loudermilk EF, Kisor DF. Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia. Physiol Genomics. 2017;49(2):81–7.
Sangkuhl K, Dirksen RT, Alvarellos ML, Altman RB, Klein TE. PharmGKB summary: Very important pharmacogene information for CACNA1S. Pharmacogenet Genomics. 2020;30(2):34–43.
Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W, Sprague SM, Stamm DS, Powell CM, Speer MC, Franzini-Armstrong C, Hirata H, Kuwada JY. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat Commun. 2013;4:1–11.
Webb BD, Manoli I, Jabs EW. STAC3 Disorder. 2019 Jun 20. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022.
Zhang S, Deng Y, Gao Y. Malignant hyperthermia-like syndrome in acute chlorfenapyr poisoning – A case report. Heliyon. 2022;8(8):e10051.
Jurkat-Rott K, McCarthy T, Lehmann-Horn F. Genetics and pathogenesis of malignant hyperthermia. Muscle and Nerve. 2000;23(1):4–17.
Lee YC, Woo NS. Malignant Hyperthermia Syndrome - A case report. Korean J Anesthesiol. 1988;21(6):1007.
Laitano O, Murray KO, Leon LR. Overlapping Mechanisms of Exertional Heat Stroke and Malignant Hyperthermia: Evidence vs. Conjecture. Sport Med. 2020;50(9):1581–92.
Kalow W, Britt BA, Terreau ME, Haist C. Metabolic error of muscle metabolism after recovery from malignant hyperthermia. Lancet. 1970;Oct 31(2(7679)):895–8.
Bendhan D, Guis S, Monnier N, Kozak-Ribbens G, Lunardi J, Ghattas B, Mattei JP, Cozzone PJ. Comparative analysis of in vitro contracture tests with ryanodine and a combination of ryanodine with either halothane or caffeine: a comparative investigation in malignant hyperthermia. Acta Anaesthesiol Scand. 2004;48:1019–27.
Figarella-Branger D, Kozak-Ribbens G, Rodet L, Aubert M, Borsarelli J, Cozzone PJ, Pellissier JF. Pathological findings in 165 patients explored for malignant hyperthermia susceptibility. Neuromuscul Disord. 1993;3(5–6):553–6.
Ellinas H, Albrecht MA. Malignant Hyperthermia Update. Anesthesiol Clin [Internet]. 2020;38(1):165–81. Available from: https://doi.org/10.1016/j.anclin.2019.10.010
Glahn KPE, Ellis FR, Halsall PJ, Müller CR, Snoeck MMJ, Urwyler A, Wappler F. Recognizing and managing a malignant hyperthermia crisis: Guidelines from the European Malignant Hyperthermia Group. Br J Anaesth. 2010;105(4):417–20.
Rosenberg H, Sambuughin N, Riazi S, et al. Malignant Hyperthermia Susceptibility. 2003 Dec 19 [Updated 2020 Jan 16]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022.
Sinkovich DD, Mitch-Resignalo AE. Malignant hyperthermia. Orthop Nurs. 1991;10(1):39–43.
Laha S, Giri PP, Saha A, Gupta PP, De A. Life-threatening Episodes of Malignant Hyperthermia following Halothane Anesthesia in Three Children: A case series and review of literature. Indian J Crit Care Med. 2019;23(1):47–50.
Srinivasan SP, Eldo N, Nair SG. Malignant hyperthermia during pediatric kidney transplantation—A medical and ethical quandary. Pediatr Transplant. 2021;25(3):15–8.
Otsu K. Malignant hyperthermia. Tanpakushitsu Kakusan Koso. 1998;43(12 Suppl):1898–902.
Malignant Hyperthermia Association of the United States. MHAUS Recommendations. 2018. p. 1–36.
Gupta PK, Hopkins PM. Diagnosis and management of malignant hyperthermia. BJA Educ. 2017;17(7):249–54.
Cieniewicz A, Trzebicki J, Mayzner-zawadzka E. Hipertermia złośliwa – co wiemy w 2019 roku? 2019;169–77.
Pollock AN, Langton EE, Couchman K, Stowell KM, Waddington M. Suspected malignant hyperthermia reactions in New Zealand. Anaesth Intensive Care. 2002;30(4):453–61.
Brandom BW, Larach MG. Reassessment of the Safety and Efficacy of Dantrolene. Anesthesiology. 2002;96(Sup 2):A1199.
Phillips T, Zimmermann E, Dukatz C, Tully M, Aziken N, Raman J, Merkel M, Sera V. Use of Cardiopulmonary Bypass for Treatment of Malignant Hyperthermia. J Cardiothorac Vasc Anesth. 2020;34(3):753–5.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2022 Michał Perszke, Dominika Egierska, Kamil Cieślak, Miłosz Berliński, Witold Świenc, Oskar Tokarczuk, Anna Walendzik
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
The periodical offers access to content in the Open Access system under the Creative Commons Attribution-NonCommercial-ShareAlike 4.0
Stats
Number of views and downloads: 409
Number of citations: 0
