Current concepts in malignant hyperthermia

Journal of Clinical Neuromuscular Disease

Volumn 4, Issue 2, 2002, Pages 64-74

  Finsterer, Josef ^a  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; ALFENTANIL; BENZODIAZEPINE DERIVATIVE; BICARBONATE; CAFFEINE; DANTROLENE; DESFLURANE; DROPERIDOL; ENFLURANE; ENOXIMONE; ETOMIDATE; FENTANYL; GALLAMINE; HALOTHANE; INHALATION ANESTHETIC AGENT; INTRAVENOUS ANESTHETIC AGENT; ISOFLURANE; METHOFLURANE; MUSCLE RELAXANT AGENT; NITROUS OXIDE; OPIATE; OXYGEN; PROPOFOL; RYANODINE RECEPTOR; RYANODINE RECEPTOR 1; SEVOFLURANE; SUXAMETHONIUM; THIOPENTAL; TUBOCURARINE CHLORIDE; UNCLASSIFIED DRUG; UNINDEXED DRUG;

ACIDOSIS; ANESTHESIST; BECKER MUSCULAR DYSTROPHY; CENTRONUCLEAR MYOPATHY; CONSULTATION; COOLING; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG MECHANISM; DUCHENNE MUSCULAR DYSTROPHY; DYSTOCIA; ELECTROLYTE DISTURBANCE; FAMILY COUNSELING; FAMILY HISTORY; GENE MUTATION; GENERAL ANESTHESIA; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GENETIC SCREENING; HEART ARRHYTHMIA; HUMAN; IN VITRO STUDY; LABORATORY TEST; LETHALITY; MALIGNANT HYPERTHERMIA; MEDICAL SPECIALIST; MORBIDITY; MORTALITY; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MYOPATHY; MYOTONIC DYSTROPHY; NONHUMAN; OXYGEN THERAPY; PREOPERATIVE EVALUATION; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; TREATMENT PLANNING; UTERUS BLEEDING;

EID: 0141631538     PISSN: 15220443     EISSN: None     Source Type: Journal    
DOI: 10.1097/00131402-200212000-00004     Document Type: Review

References (90)

1. Denborough MA, Lovell RRH. Anesthetic deaths in a family. Lancet 1960;2:45-55.
2. Mauritz W, Hackl W, Winkler M. Malignant hyperthermia: state of the art. Acta Anesthesiol Scand 1997;111 (suppl):310-312.
3. McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000;15:410-417.
4. O'Sullivan GH, McIntosh JM, Heffron JJ. Abnormal uptake and release of Ca2+ ions from human malignant hyperthermia-susceptible sarcoplasmic reticulum. Biochem Pharmacol 2001;61: 1479-1485.
5. Steinfath M, Wappler F. Malignant hyperthermia. Anesthesiol Intensivmed Notfallmed Schmerzther 2000;35:147-172.
6. Jurkat-Rott K, McCarthy T, Lehmann-Horn F. Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve 2000;23: 4-17.
7. Melzer W, Dietze B. Malignant hyperthermia and excitation-contraction coupling. Acta Physiol Scand 2001;171:367-378.
8. Griggs RC, Mendell JR, Miller RG. Evaluation and Treatment of Myopathies. Philadelphia: FA Davis Co., 1995:279-288.
9. Wappler F. Malignant hyperthermia. Eur J Anesthesiol 2001;18: 632-652.
10. Chastonay P, Bracco D, Freymond D, et al. Malignant hyperthermia. Rev Med Suisse-Romande 1999;119:191-202.
11. Loke J, MacLennan DH. Malignant hyperthermia and central core disease: disorders of Ca2+ release channels. Am J Med 1998; 104:470-486.
12. Abraham RB, Adnet P, Glauber V, et al. Malignant hyperthermia. Postgrad Med J 1998;74:11-17.
13. Hogan K. The anesthetic myopathies and malignant hyperthermias. Curr Opin Neurol 1998;11:469-476.
14. Dunn D. Malignant hyperthermia. AORN J 1997;65:728-731.
15. Psujek M, Bartosik-Psujek H, Wojczal J. Pathogenesis and clinical aspects of malignant hyperpyrexia (MH). Ann Univ Mariae Curie Sklodowska 1996;51:241-245.
16. Iaizzo PA, Kehler CA, Carr RJ, et al. Prior hypothermia attenuates malignant hyperthermia in susceptible swine. Anesth Analg 1996;82:803-809.
17. Denborough M. Malignant hyperthermia. Lancet 1998;352: 1131-1136.
18. Leary NP, Ellis FR. Masseteric muscle spasm as a normal response to suxamethonium. Br J Anaesth 1990;64:488-492.
19. Reyford H, Adnet PJ, Tavernier B, et al. Halothane induces calcium release from human skinned masseter muscle fibers. Anesthesiology 1999;90:1019-1025.
20. Hopkins PM. Malignant hyperthermia: advances in clinical management and diagnosis. Br J Anaesth 2000;85:118-128.
21. Mickelson JR, Louis CF. Malignant hyperthermia: excitation contraction coupling, Ca++ release channel, and cell Ca++ regulation defects. Physiol Rev 1996;76:537-592.
22. Balshaw D, Gao L, Meissner G. Luminal loop of the ryanodine-receptor: a pore-forming segment? Proc Natl Acad Sci USA 1999; 96:3345-3347.
23. Sambuughin N, McWilliams S, de-Bantel A, et al. Single-amino-acid deletion in the ryanodine-receptor 1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. Am J Hum Genet 2001;69:204-208.
24. Chini EN, Walker H. FK506 (tacrolimus) increases halothane-induced Ca++ release from skeletal muscle sarcoplasmic reticulum. Anesthesiology 2000;92:1361-1365.
25. Robinson RL, Curran JL, Ellis FR, et al. Multiple interacting gene products may influence susceptibility to malignant hyperthermia. Ann Hum Genet 2000;64:307-320.
26. Robinson RL, Hopkins PM. A breakthrough in the genetic diagnosis of malignant hyperthermia. Br J Anaesth 2001;86:166-168.
27. McCarthy TV, Healy JMS, Heffron JJA, et al. Localisation of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 1990;343:562-564.
28. McLennan DH, Duff C, Zorzato F, et al. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 1990;343:559-561.
29. Sambuughin N, Nelson TE, Jankovic J, et al. Identification and functional characterization of a novel ryanodine-receptor mutation causing malignant hyperthermia in North American and South American families. Neuromusc Disord 2001;11:530-537.
30. Monnier N, Romero NB, Lerale J, et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the ryanodine-receptor1 gene encoding the skeletal muscle ryanodine-receptor. Hum Mol Genet 2000;9: 2599-2608.
31. Gencik M, Gencik A, Mortier W, et al. Novel mutation in the ryanodine-receptor 1 gene (R2454C) in a patient with malignant hyperthermia. Hum Mutat 2000;15:122.
32. . Rueffert H, Kraus H, Olthoff D, et al. Identification of a novel mutation in the ryanodine-receptor gene (ryanodine-receptor 1) in patients with malignant hyperthermia. Hum Mutat 2001;17: 238.
33. Tong J, McCarthy TV, MacLennan DH. Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. J Biol Chem 1999;274: 693-702.
34. Stewart SL, Hogan K, Rosenberg H, et al. Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Clin Genet 2001; 59:178-184.
35. Busby M, Squier M. Central core disease. In: Emery AEH, ed. Neuromuscular Disorders: Clinical and Molecular Genetics. Chichester: Wiley, 1998:277-288.
36. Kleopa KA, Rosenberg H, Heiman Patterson T. Malignant hyperthermia-like episode in Becker muscular dystrophy. Anesthesiology 2000;93:1535-1537.
37. Tagaki A. Malignant hyperthermia of Duchenne muscular dystrophy: application of clinical grading scale and caffeine contracture of skinned muscle fibers. Rinsho Shinkeigaku 2000;40:423-427.
38. Iwatsubo T, Yoshikawa M, Karashima Y, et al. Anesthetic management of the King-Denborough syndrome. Masui 2001;50: 390-393.
39. Stojkovic T, Maurage CA, Moerman A, et al. Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility, Neuromusc Disord 2001; 11:538-541.
40. Schenk MR, Beck DH, Nolte M, et al. Continuous veno-venous hemofiltration for the immediate management of massive rhabdomyolysis after fulminant malignant hyperthermia in a body-builder. Anesthesiology 2001;94:1139-1141.
41. Nishiyama K, Kitahara A, Natsume H, et al. Malignant hyperthermia in a patient with Graves' disease during subtotal thyroidectomy. Endocr J 2001;48:227-232.
42. Tobin JR, Jason DR, Challa VR, et al. Malignant hyperthermia and apparent heat stroke. JAMA 2001;286:168-169.
43. Wappler F, Fiege M, Steinfath M, et al. Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis. Anesthesiology 2001;94:95-100.
44. Hall LW, Woolf N, Bradley JW, et al. Unusual reaction to suxamethonium chloride. Br Med J 1966;2:1305.
45. Davis M, Brown R, Dickson A, et al. Malignant hyperthermic associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYRI mutation in New Zealand and Australian pedigrees. Br J Anaesth 2002;88:808-815.
46. Etchrivi TS, Adnet PJ, Tavernier B, et al. Effects of halothane on mechanical response of skeletal muscle from malignant hyperthermia susceptible patients. Arch Physiol Biochem 1998;106:318-324.
47. Kalow W, Britt BA, Terreau ME, et al. Metabolic error of muscle metabolism after recovery from malignant hyperthermia. Lancet 1970;2:895-898.
48. Ellis FR, Harriman DG, Keaney NP, et al. Halothane-induced muscle contracture as a cause of hyperpyrexia. Br J Anaesth 1971; 43:721-722.
49. The European Malignant Hyperthermia Group. A protocol for the investigation of malignant hyperthermia (MH) susceptibility. Br J Anaesth 1984;56:1267-1269.
50. Larach MG, for the North American Malignant Hyperthermia Group. Standardization of the caffeine-halothane muscle contracture test. Anaesth Analg 1989;69:511-515.
51. Allen SC, Larach MG, Kunselman AR. The sensitivity and Specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry of MHAUS. Anesthesiology 1998;88:579-588.
52. Ording H, Brancadoro V, Cozzolino S, et al. In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group. Acta Anesthesiol Scand 1997;41:955-966.
53. Ording H, Islander G, Bendixen G, et al. Between-center variability of results of the in vitro contracture test for malignant hyperthermia susceptibility. Anesth Analg 2000;91:452-457.
54. Islander G, Twetman ER. Comparison between the European and North American protocols of malignant hyperthermia susceptibility in humans. Anesth Analg 1999;88:1155-1160.
55. Larach MG, Localio AR, Allen GC, et al. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology 1994;80:771-779.
56. Urwyler A, Deufel T, McCarthy T, et al. Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 2001;86:283-287.
57. Girard T, Urwyler A, Censier K, et al. Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Hum Mutat 2001; 18:357-358.
58. Baur CP, Bellon L, Felleiter P, et al. A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility. Anesth Analg 2000;90:200-205.
59. Trollor JN, Sachdev PS. Electroconvulsive treatment of neuroleptic malignant syndrome: a review and report of cases. Aust NZ J Psychiatry 1999;33:650-659.
60. McGugan EA. Hyperpyrexia in the emergency department. Emerg Med (Fremantle) 2001;13:116-120.
61. Tatsukawa H, Okuda J, Kondoh M, et al. Malignant hyperthermia caused by intravenous lidocaine for ventricular arrhythmia. Intern Med 1992;31:1069-1072.
62. Riess FC, Fiege M, Moshar S, et al. Rhabdomyolysis following cardiopulmonary bypass and treatment with enoximone in a patient susceptible to malignant hyperthermia. Anesthesiology 2001; 94:355-357.
63. Beebe JJ, Sessler DI. Preparation of anesthesia machines for patients susceptible to malignant hyperthermia. Anesthesiology 1988; 69:395-400.
64. Orliaguet G, Langeron O, Coirault C, et al. Effects of dantrolene on rat diaphragm muscle during postnatal maturation. Anesthesiology 2001;94:468-474.
65. Harrison GG. Control of the malignant hyperpyrexic syndrome in MH-susceptibility swine by dantrolene sodium. Br J Anaesth 1975;47:62-65.
66. Zhao F, Li P, Louis CF, et al. Dantrolene inhibition of ryanodine-receptor Ca2+ release channels. Molecular mechanism and isoform selectivity. J Biol Chem 2001;276:13810-13816.
67. Lynch PJ, Krivosic-Horber R, Reyford H, et al. Identification of heterozygous and homozygous individuals with the novel ryanodine-receptor1 mutation Cys35Arg in a large kindred. Anesthesiology 1997;86:620-626.
68. Quane KA, Healy JM, Keating KE, et al. Mutations in the ryanodine-receptor gene in central core disease and malignant hyperthermia. Nat Genet 1993;5:51-55.
69. Gillard EF, Otsu K, Fujii J, et al. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine-receptor (ryanodine-rcceptor 1) gene in individuals with malignant hyperthermia. Genomics 1992;13:1247-1254.
70. Quane KA, Keating KE, Manning BM, et al. Detection of a novel common mutation in the ryanodine-receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet 1994;3:471-476.
71. Quane KA, Keating KE, Healy JM, et al. Mutation screening of the ryanodine-receptor1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. Genomics 1994;23:236-239.
72. Keating KE, Giblin L, Lynch PJ, et al. Detection of a novel mutation in the ryanodine-receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. J Med Genet 1997;34:291-296.
73. Gillard EF, Otsu K, Fujii J, et al. A substitution of cysteine for arginine 614 in the ryanodine-receptor is potentially causative of human malignant hyperthermia. Genomics 1991;11:751-755.
74. Quane KA, Ording H, Keating KE, et al. Detection of a novel mutation at amino acid position 614 in the ryanodine-receptor in malignant hyperthermia. Br J Anaesth 1997;79:332-337.
75. Manning BM, Quane KA, Ording H, et al. Identification of novel mutations in the ryanodine-receptor gene (ryanodine-receptor 1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet 1998;62:599-605.
76. Fortunato G, Berruti R, Brancadoro, V, et al. Identification of a novel mutation in the ryanodine-receptor gene (ryanodine-receptor 1) in a malignant hyperthermia Italian family. Eur J Hum Genet 2000;8:149-152.
77. Manning BM, Quane KA, Lynch, et al. Novel mutation at a CpG dinucleotide in the ryanodine-receptor in malignant hyperthermia. Hum Mutat 1998;11:45-50.
78. Brandt A, Schleithoff L, Jurkat-Rott K, et al. Screening of the ryanodine-receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Hum Mol Genet 1999;8:2055-2062.
79. Sambuughin N, Sei Y, Gallagher KL, et al. North American Malignant Hyperthermia population: screening of the ryanodine-receptor gene and identification of novel mutations. Anesthesiology 2001;95:594-599.
80. Keating KE, Quane KA, Manning BM, et al. Detection of a novel ryanodine-receptor1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet 1994;3:1855-1858.
81. Zhang Y, Chen HS, Khanna VK, et al. A mutation in the human ryanodine-receptor gene associated with central core disease. Nat Genet 1993;5:46-50.
82. Barone V, Massa O, Intravaia E, et al. Mutation screening of the ryanodine-receptor1 gene and identification of two novel mutations in Italian malignant hyperthermia families. J Med Genet 1999;36:115-118.
83. Brown RL, Pollock AN, Couchman KG, et al. A novel ryanodine-receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Hum Mol Genet 2000;12:1515-1524.
84. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994;3:1415-1419.
85. Ruffert H, Olthoff D, Deutrich C, et al. Current aspects of the diagnosis of malignant hyperthermia. Anesthesist 2002;51:904-913.
86. Steinfath M, Seranski P, Singh S, et al. Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA finger-printing in a malignant hyperthermia susceptible family. Naunyn Schmiedebergs Arch Pharmacol 2002;366:372-375.
87. Galli L, Orrico A, Cozzolino S, et al. Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium 2002;32:143.
88. McWilliams S, Nelson T, Sudo RT, et al. Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. Clin Genet 2002;62:80-83.
89. Ptacek LJ, Tawil R, Griggs RC, et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994;77: 863-868.
90. 2, calcium, digoxin, and potassium on cardiac and skeletal muscle metabolism in malignant hyperthermia susceptible swine. Anesthesiology 1986;64:24-28.