Future directions in malignant hyperthermia research and patient care

Anesthesia and Analgesia

Volumn 113, Issue 5, 2011, Pages 1108-1119

  Hirshey Dirksen, Sharon J ^a   Larach, Marilyn Green ^b   Rosenberg, Henry ^c   Brandom, Barbara W ^d   Parness, Jerome ^d   Lang, Robert Scott ^e   Gangadharan, Meera ^f   Pezalski, Tyler ^g  

^a Malignant Hyperthermia Association of the United States   (United States)

^b North American Malignant Hyperthermia Registry of MHAUS   (United States)

^c SAINT BARNABAS MEDICAL CENTER   (United States)

^d CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^e UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^f UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^g UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; RYANODINE RECEPTOR 1; CALCIUM;

ANESTHESIA; ANESTHETIC EQUIPMENT; ARTICLE; CAFFEINE HALOTHANE CONTRACTURE TEST; CALCIUM HOMEOSTASIS; DIAGNOSTIC TEST; DISEASE PREDISPOSITION; DNA DETERMINATION; ENDOPLASMIC RETICULUM; ENVIRONMENTAL FACTOR; EXERCISE; GAS FLOW; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HEALTH CARE FACILITY; HEAT; HEAT STROKE; HUMAN; MALIGNANT HYPERTHERMIA; MEDICAL RESEARCH; MUSCLE CELL; MUSCULAR DYSTROPHY; MYOPATHY; MYOTONIA; PATHOPHYSIOLOGY; PATIENT CARE; PHARMACOGENETICS; PRIORITY JOURNAL; RHABDOMYOLYSIS; RISK ASSESSMENT; RISK FACTOR; SARCOPLASMIC RETICULUM; TEMPERATURE MEASUREMENT; VAPORIZER; GENETICS; HOMEOSTASIS; MUSCLE DISEASE; PATIENT SAFETY; PHYSIOLOGY; RESEARCH; REVIEW; SKELETAL MUSCLE;

CALCIUM; HEAT STROKE; HOMEOSTASIS; HUMANS; MALIGNANT HYPERTHERMIA; MUSCLE, SKELETAL; MUSCULAR DISEASES; PATIENT CARE; PATIENT SAFETY; RESEARCH;

EID: 80055076937     PISSN: 00032999     EISSN: None     Source Type: Journal    
DOI: 10.1213/ANE.0b013e318222af2e     Document Type: Article

References (78)

1. Maclennan DH, Zvaritch E. Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum. Biochim Biophys Acta 2011;1813:948-64
2. Rosenberg H, Sambuughin N, Dirksen R. Malignant hyperthermia susceptibility. In GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle: University of Washington, 1997-2011. Updated January 19, 2010.Available at http://www.genetests.org. [Accessed February 21, 2011]
3. Brandom BW. Genetics of malignant hyperthermia. SciWorldJ 2006;6:1722-30
4. Dirksen RT, Avila G. Distinct effects on Ca2-handling caused by malignant hyperthermia and central core disease mutations in RyR1. Biophys J 2004;87:3193-204
5. Parness J, Palnitkar SS. Identification of dantrolene binding sites in porcine skeletal muscle sarcoplasmic reticulum. J Biol Chem 1995;270:18465-72
6. Krause T, Gerbershagen MU, Fiege M, Weisshorn R, Wappler F. Dantrolene-a review of its pharmacology, therapeutic use and new developments. Anaesthesia 2004;59:364-73
7. Fruen BR, Mickelson JR, Louis CF. Dantrolene inhibition of sarcoplasmic reticulum Ca2-release by direct and specific action at skeletal muscle ryanodine receptors. J Biol Chem 1997;272:26965-71
8. Szentesi P, Collet C, Sarkozi S, Szegedi C, Jona I, Jacquemond V, Kovacs L, Csernoch L. Effects of dantrolene on steps of excitation- contraction coupling in mammalian skeletal muscle fibers. J Gen Physiol 2001;118:355-75
9. Dirksen RT. Checking your SOCCs and feet: the molecular mechanisms of Ca2-entry in skeletal muscle. J Physiol 2009;587:3139-47
10. Duke AM, Hopkins PM, Calaghan SC, Halsall JP, Steele DS. Storeoperated Ca2entry in malignant hyperthermia-susceptible human skeletal muscle. J Biol Chem 2010;285:25645-53
11. Zhao F, Li P, Chen SR, Louis CF, Fruen BR. Dantrolene inhibition of ryanodine receptor Ca2-release channels. Molecular mechanism and isoform selectivity. J Biol Chem 2001;276:13810-6
12. Zhao X, Weisleder N, Han X, Pan Z, Parness J, Brotto M, Ma J. Azumolene inhibits a component of store-operated calcium entry coupled to the skeletal muscle ryanodine receptor. J Biol Chem 2006;281:33477-86
13. Zhao X, Min CK, Ko JK, Parness J, Kim Do H, Weisleder N, Ma J. Increased store-operated Ca2-entry in skeletal muscle with reduced calsequestrin-1 expression. Biophys J 2010;99:1556-64
14. Cherednichenko G, Ward CW, Feng W, Cabrales E, Michaelson L, Samso M, Lopez JR, Allen PD, Pessah IN. Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene. Mol Pharmacol 2008;73:1203-12
15. MacLennan DH, Chen SR. Store overload-induced Ca2-release as a triggering mechanism for CPVT and MH episodes caused by mutations in RYR and CASQ genes. J Physiol 2009;587:3113-5
16. Treves S, Jungbluth H, Muntoni F, Zorzato F. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 2008;8:319-26
17. Esteve E, Eltit JM, Bannister RA, Liu K, Pessah IN, Beam KG, Allen PD, Lopez JR. A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2-entry, release, and retrograde signaling to the DHPR. J Gen Physiol 2010;135:619-28
18. Le Roy F, Charton K, Lorson CL, Richard I. RNA-targeting approaches for neuromuscular diseases. Trends Mol Med 2009;15:580-91
19. Zvaritch E, Kraeva N, Bombardier E, McCloy RA, Depreux F, Holmyard D, Kraev A, Seidman CE, Seidman JG, Tupling AR, MacLennan DH. Ca2 dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. Proc Natl Acad Sci USA 2009;106:21813-8
20. Durham WJ, Aracena-Parks P, Long C, Rossi AE, Goonasekera SA, Boncompagni S, Galvan DL, Gilman CP, Baker MR, Shirokova N, Protasi F, Dirksen R, Hamilton SL. RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell 2008;133:53-65
21. Boncompagni S, Rossi AE, Micaroni M, Hamilton SL, Dirksen RT, Franzini-Armstrong C, Protasi F. Characterization and temporal development of cores in a mouse model of malignant hyperthermia. Proc Natl Acad Sci USA 2009;106: 21996-2001
22. Capacchione JF, Sambuughin N, Bina S, Mulligan LP, Lawson TD, Muldoon SM. Exertional rhabdomyolysis and malignant hyperthermia in a patient with ryanodine receptor type 1 gene, L-type calcium channel alpha-1 subunit gene, and calsequestrin-1 gene polymorphisms. Anesthesiology 2010;112:239-44
23. Capacchione JF, Muldoon SM. The relationship between exertional heat illness, exertional rhabdomyolysis, and malignant hyperthermia. Anesth Analg 2009;109:1065-9
24. Marks AR, Priori S, Memmi M, Kontula K, Laitinen PJ. Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia. J Cell Physiol 2002;190:1-6
25. Lehnart SE, Mongillo M, Bellinger A, Lindegger N, Chen BX, Hsueh W, Reiken S, Wronska A, Drew LJ, Ward CW, Lederer WJ, Kass RS, Morley G, Marks AR. Leaky Ca2-release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice. J Clin Invest 2008;118:2230-45
26. Kobayashi S, Yano M, Uchinoumi H, Suetomi T, Susa T, Ono M, Xu X, Tateishi H, Oda T, Okuda S, Doi M, Yamamoto T, Matsuzaki M. Dantrolene, a therapeutic agent for malignant hyperthermia, inhibits catecholaminergic polymorphic ventricular tachycardia in a RyR2(R2474S/-) knock-in mouse model. Circ J 2010;74:2579-84
27. MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 1990;343:559-61
28. Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA. The role of CACNA1S in predisposition to malignant hyperthermia. BMC Med Genet 2009;10:104
29. Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 2006;27:977-89
30. Pietri-Rouxel F, Gentil C, Vassilopoulos S, Baas D, Mouisel E, Ferry A, Vignaud A, Hourde C, Marty I, Schaeffer L, Voit T, Garcia L. DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis. Embo J 2010;29:643-54
31. Chelu MG, Goonasekera SA, Durham WJ, Tang W, Lueck JD, Riehl J, Pessah IN, Zhang P, Bhattacharjee MB, Dirksen RT, Hamilton SL. Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J 2006;20: 329-30
32. Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-4
33. Flanagan SE, Patch AM, Ellard S. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers 2010;14:533-7
34. Weiss RG, O'Connell KM, Flucher BE, Allen PD, Grabner M, Dirksen RT. Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling. Am J Physiol Cell Physiol 2004;287:C1094-102
35. Levano S, Vukcevic M, Singer M, Matter A, Treves S, Urwyler A, Girard T. Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat 2009;30:590-8
36. Litman RS, Rosenberg H. Malignant hyperthermia: update on susceptibility testing. JAMA 2005;293:2918-24
37. Robinson RL, Anetseder MJ, Brancadoro V, van Broekhoven C, Carsana A, Censier K, Fortunato G, Girard T, Heytens L, Hopkins PM, Jurkat-Rott K, Klinger W, Kozak-Ribbens G, Krivosic R, Monnier N, Nivoche Y, Olthoff D, Rueffert H, Sorrentino V, Tegazzin V, Mueller CR. Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? Eur J Hum Genet 2003;11:342-8
38. Rosenberg H, Davis M, James D, Pollock N, Stowell K. Malignant hyperthermia. Orphanet J Rare Dis 2007;2:21
39. 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;79:438-47
40. Ginz HF, Ruffert H, Levano S, Li Wan Po A, Benthien J, Urwyler A, Girard T. A mathematical model to improve on phenotyping for molecular genetic research in malignant hyperthermia. Pharmacogenet Genomics 2009;19:972-8
41. Larach MG, Localio AR, Allen GC, Denborough MA, Ellis FR, Gronert GA, Kaplan RF, Muldoon SM, Nelson TE, Ording H, Rosenberg H, Waud BE, Wedel DJ. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology 1994;80:771-9
42. Litman RS, Rosenberg H. Malignant hyperthermia: update on susceptibility testing. JAMA 2005;293:2918-24
43. Sambuughin N, Capacchione J, Blokhin A, Bayarsaikhan M, Bina S, Muldoon S. The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. Clin Genet 2009;76:564-8
44. 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;103:538-48
45. Robinson RL, Carpenter D, Halsall PJ, Iles DE, Booms P, Steele D, Hopkins PM, Shaw MA. Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility. Br J Anaesth 2009;103:220-5
46. Newmark JL, Voelkel M, Brandom BW, Wu J. Delayed onset of malignant hyperthermia without creatine kinase elevation in a geriatric, ryanodine receptor type 1 gene compound heterozygous patient. Anesthesiology 2007;107:350-3
47. Monnier N, Krivosic-Horber R, Payen J-F, Kozak-Ribbens G, Nivoche Y, Adnet P, Reyford H, Lunardi J. Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology 2002;97: 1067-74
48. Ibarra MC, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, Noguchi S, Hayashi YK, Ochiai R, Nishino I. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology 2006;104:1146-54
49. Li G, Warner M, Lang BH, Huang L, Sun LS. Epidemiology of anesthesia-related mortality in the United States, 1999-2005. Anesthesiology 2009;110:759-65
50. Rosero EB, Adesanya AO, Timaran CH, Joshi GP. Trends and outcomes of malignant hyperthermia in the United States, 2000 to 2005. Anesthesiology 2009;110:89-94
51. Brady JE, Sun LS, Rosenberg H, Li G. Prevalence of malignant hyperthermia due to anesthesia in New York State, 2001-2005. Anesth Analg 2009;109:1162-6
52. 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;110:498-507
53. Britt BA, Kwong FHF, Endrenyi L. The clinical and laboratory features of malignant hyperthermia management-a review. In Henschel EO, ed. Malignant hyperthermia: current concepts. New York: Appleton-Century-Crofts, 1977:9-45
54. Ording H. Incidence of malignant hyperthermia in Denmark. Anesth Analg 1985;64:700-4
55. Mauritz W, Sporn P, Steinbereithner K. Malignant hyperthermia in Austria: I. Epidemiology and clinical aspects. Anaesthesist 1986;35:639-50
56. Benca J, Hogan K. Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options. Anesth Analg 2009;109:1049-53
57. Klingler W, Rueffert H, Lehmann-Horn F, Girard T, Hopkins PM. Core myopathies and risk of malignant hyperthermia. Anesth Analg 2009;109:1167-73
58. Gurnaney H, Brown A, Litman RS. Malignant hyperthermia and muscular dystrophies. Anesth Analg 2009;109:1043-8
59. Parness J, Bandschapp O, Girard T. The myotonias and susceptibility to malignant hyperthermia. Anesth Analg 2009;109: 1054-64
60. Hogan KJ, Vladutiu GD. Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. Anesth Analg 2009;109:1070-2
61. Davis PJ, Brandom BW. The association of malignant hyperthermia and unusual disease: when you're hot you're hot or maybe not. Anesth Analg 2009;109:1001-3
62. Bellinger AM, Reiken S, Carlson C, Mongillo M, Liu X, Rothman L, Matecki S, Lacampagne A, Marks AR. Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. Nat Med 2009 15 325-30
63. van der Spek AF, Reynolds PI, Fang WB, Ashton-Miller JA, Stohler CS, Schork MA. Changes in resistance to mouth opening induced by depolarizing and non-depolarizing neuromuscular relaxants. Br J Anaesth 1990;64:21-7
64. Bellinger AM, Reiken S, Carlson C, Mongillo M, Liu X, Rothman L, Matecki S, Lacampagne A, Marks AR. Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. Nat Med 2009;15:325-30
65. Lanier WL, Milde JH, Michenfelder JD. Cerebral stimulation following succinylcholine in dogs. Anesthesiology 1986;64: 551-9
66. Rawicz M, Brandom BW, Wolf A. The place of suxamethonium in pediatric anesthesia. Paediatr Anaesth 2009;19:561-70
67. Larach MG, Rosenberg H, Gronert GA, Allen GC. Hyperkalemic cardiac arrest during anesthesia in infants and children with occult myopathies. Clin Pediatr (Phila) 1997;36:9-16
68. O'Connor FG, Williams AD, Blivin S, Heled Y, Deuster P, Flinn SD. Guidelines for return to duty (play) after heat illness: A military perspective. J Sport Rehabil 2007;16:227-37
69. Moran DS, Erlich T, Epstein Y. The heat tolerance test: an efficient screening tool for evaluating susceptibility to heat. J Sport Rehabil 2007;16:215-21
70. Vladutiu GD. Genetic predisposition to statin myopathy. Curr Opin Rheumatol 2008;20:648-55
71. Vladutiu GD, Simmons Z, Isackson PJ, Tarnopolsky M, Peltier WL, Barboi AC, Sripathi N, Wortmann RL, Phillips PS. Genetic risk factors associated with lipid-lowering drug-induced myopathies. Muscle Nerve 2006;34:153-62
72. Metterlein T, Schuster F, Tadda L, Hager M, Roewer N, Anetseder M. Statins alter intracellular calcium homeostasis in malignant hyperthermia susceptible individuals. Cardiovasc Ther 2010;28:356-60
73. Hollander AS, Olney RC, Blackett PR, Marshall BA. Fatal malignant hyperthermia-like syndrome with rhabdomyolysis complicating the presentation of diabetes mellitus in adolescent males. Pediatrics 2003 111 1447-52.
74. Kim TW, Nemergut ME. Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: A review of past and present practice. Anesthesiology 2011;114:205-12
75. Harrison GG, Saunders SJ, Biebuyck JF, Hickman R, Dent DM, Weaver V, Terblanche J. Anaesthetic-induced malignant hyperpyrexia and a method for its prediction. Br J Anaesth 1969;41:844-55
76. Jantzen JP, Eck EJ, Kleemann PP. An activated charcoal filter for eliminating volatile anesthetics. A contribution to the management of malignant hyperthermia. Anaesthetist 1989;38:639-41
77. Gunter JB, Ball J, Than-Win S. Preparation of the Drager Fabius anesthesia machine for the malignant-hyperthermia susceptible patient. Anesth Analg 2008;107:1936-45
78. Birgenheier N, Stoker R, Westenskow D, Orr J. Activated charcoal effectively removes inhaled anesthetics from modern anesthesia machines. Anesth Analg 2011;112:1363-70