Advancements of Clinical and Basic Research in Malignant Hyperthermia.

doi:10.13701/j.cnki.kqyxyj.2020.10.001

Abstract

Abstract: Malignant hyperthermia (MH) is a rare genetic disease which characterized by a sharp rise in body temperature and a series of pathological changes caused by severe contraction of skeletal muscle when exposed to volatile anesthetics or depolarizing muscle relaxants. The patient is difficult to diagnose before the onset of the disease. The development MH is very rapid, and if not effectively treated, it is very easy to appear life-threatening. With the wide application of various anesthetics in the clinic, the probability to encounter MH is increasing gradually. However, the treatment methods are certain particular. Misdiagnosis and mistreatment may lead to the death of patients. Therefore, this paper reviews the clinical and basic research progress of MH.

Key words: malignant hyperthermia, diagnosis, treatments

TANG Zhangui, CHEN Juan. Advancements of Clinical and Basic Research in Malignant Hyperthermia.[J]. Journal of Oral Science Research, 2020, 36(10): 893-897.

References

[1] 唐瞻贵,步荣发,郭伟,等.口腔医疗中恶性高热临床诊治中国专家共识[J].中国口腔颌面外科杂志, 2020, 18(1): 1-9.
[2] Rosenberg H, Pollock N, Schiemann A, et al. Malignant hyperthermia: A review [J]. Orphanet J Rare Dis, 2015, 10(1): 93-103.
[3] Smith JL, Tranovich MA, Ebraheim NA. A comprehensive review of malignant hyperthermia: Preventing further fatalities in orthopedic surgery [J]. J Orthop, 2018, 15(2): 578-580.
[4] Halliday NJ. Malignant hyperthermia [J]. J Craniofac Surg, 2003, 14(5): 800-802.
[5] Ording H. Incidence of malignant hyperthermia in denmark [J]. Anesth Analg, 1985, 64(7): 700-704.
[6] 周奖, 唐瞻贵. 口腔诊疗中恶性高热的研究进展[J].口腔医学研究, 2020, 36(4): 314-317.
[7] Riazi S, Larach MG, Hu C, et al. Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands [J]. Anesth Analg, 2014, 118(2): 381-387.
[8] Krause T, Gerbershagen MU, Fiege M, et al. Dantrolene-a review of its pharmacology, therapeutic use and new developments [J]. Anaesthesia, 2004, 59(4): 364-373.
[9] Glahn KPE, Bendixen D, Girard T, et al. Availability of dantrolene for the management of malignant hyperthermia crises: European Malignant Hyperthermia Group guidelines [J]. Br J Anaesth, 2020, 125(2):133-140.
[10] Ibarra Moreno CA, Hu S, Kraeva N, et al. An assessment of penetrance and clinical expression of malignant hyperthermia in individuals carrying diagnostic ryanodine receptor 1 gene mutations [J]. Anesthesiology, 2019, 131(5): 983-991.
[11] Ramasamy S, Lee CY, Nabil S, et al. Malignant hyperthermia in a cleft lip and palate patient: A case report [J]. J Oral Maxillofac Surg Med Pathol, 2015, 27(4): 533-535.
[12] Lanner JT, Georgiou DK, Joshi AD, et al. Ryanodine receptors: Structure, expression, molecular details, and function in calcium release [J]. Cold Spring Harb Perspect Biol, 2010, 2(11): a003996.
[13] 唐瞻贵,王永贵,郭新程,等.唇裂全麻术后恶性高热的诊断与治疗[J].华西口腔医学杂志,1996,14(1): 41-44.
[14] Nelson TE. Porcine malignant hyperthermia: critical temperatures for in vivo and in vitro responses [J]. Anesthesiology, 1990, 73(3): 449-454.
[15] Schiemann AH, Stowell KM. Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia [J]. Br J Anaesth, 2016, 117(1): 124-128.
[16] Miller DM, Daly C, Aboelsaod EM, et al. Genetic epidemiology of malignant hyperthermia in the UK [J]. Br J Anaesth, 2018, 121(4): 944-952.
[17] Stamm DS, Powell CM, Stajich JM, et al. Novel congenital myopathy locus identifed in Native American Indians at 12q13.13-14.1 [J]. Neurology, 2008, 71(22): 1764-1769.
[18] Tammaro A, Di Martino A, Bracco A, et al. Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families [J]. Clin Genet, 2011, 79(5): 438-447.
[19] Rutkowsky JM, Knotts TA, Allen PD, et al. Sex-specific alterations in whole body energetics and voluntary activity in heterozygous R163C malignant hyperthermia-susceptible mice [J]. FASEB J, 2020, 34(6): 8721-8733.
[20] Beam TA, Loudermilk EF, Kisor DF. Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia [J]. Physiol Genomics, 2017, 49(2): 81-87.
[21] Carpenter D, Ringrose C, Leo V, et al. The role of CACNA1S in predisposition to malignant hyperthermia [J]. BMC Med Genet, 2009, 10:104.
[22] Schiemann AH, Stowell KM. Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia [J]. Br J Anaesth, 2016, 117(1): 124-128.
[23] Larach MG, Localio AR, Allen GC, et al. A clinical grading scale to predict malignant hyperthermia susceptibility [J]. Anesthesiology, 1994, 80(4):771-779.
[24] Hopkins PM, Rüffert H, Snoeck MM, et al. European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility [J]. Br J Anaesth, 2015, 115(4): 531-539.
[25] A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group[J]. Br J Anaesth, 1984, 56(11): 1267-1269.
[26] Larach MG, Landis JR, Bunn JS, et al. Prediction of malignant hyperthermia susceptibility in low-risk subjects. An epidemiologic investigation of caffeine halothane contracture responses [J]. Anesthesiology, 1992, 76(1):16-27.
[27] Schuster F, Metterlein T, Negele S. An in-vivo metabolic test for detecting malignant hyperthermia susceptibility in humans: a pilot study [J]. Anesth Analg, 2008, 107(3): 909-914.
[28] Anetseder M, Hager M, Müller CR, et al. Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test [J]. Lancet, 2002, 359: 1579-1580.
[29] Payen JF, Bosson JL, Bourdon L, et al. Improved noninvasive diagnostic testing for malignant hyperthermia susceptibility from a combination of metabolites determined in vivo with 31P-magnetic resonance spectroscopy [J]. Anesthesiology, 1993, 78(5): 848-855.
[30] Fiszer D, Shaw MA, Fisher NA, et al. Next-generation sequencing of RYR1 and CACNA1S in malignant hyperthermia and exertional heat illness [J]. Anesthesiology, 2015, 122(5): 1033-1046.
[31] Liu YH, Shang ZD, Chen C, et al. 'Cool and quiet' therapy for malignant hyperthermia following severe traumatic brain injury: A preliminary clinical approach [J]. Exp Ther Med, 2015, 9(2):464-468.
[32] Dagestad A, Hermann M. Keeping cool when things heat up during a malignant hyperthermia crisis [J]. Nurs Womens Health, 2017, 21(5):338-347.
[33] Glahn KP, Ellis FR, Halsall PJ, et al. Recognizing and managing a malignant hyperthermia crisis: Guidelines from the European malignant hyperthermia group [J]. Br J Anaesth, 2010, 105(4): 417-420.