Literature DB >> 9311391

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.

H Ording1, V Brancadoro, S Cozzolino, F R Ellis, V Glauber, E F Gonano, P J Halsall, E Hartung, J J Heffron, L Heytens, G Kozak-Ribbens, H Kress, R Krivosic-Horber, F Lehmann-Horn, W Mortier, Y Nivoche, E Ranklev-Twetman, S Sigurdsson, M Snoeck, P Stieglitz, V Tegazzin, A Urwyler, F Wappler.   

Abstract

BACKGROUND: Determination of sensitivity and specificity of the in vitro contracture test (IVCT) for malignant hyperthermia (MH) susceptibility using the European MH Group (EMHG) protocol has been performed in some laboratories but only on a small sample from the combined EMHG. Thus, the purpose of the present study was to determine combined EMHG sensitivity and specificity of the test.
METHODS: Results of IVCT of patients with previous fulminant MH and normal, low-risk subjects (controls) were collected from 22 centres of the EMHG. IVCT was performed according to the EMHG protocol. Patients were included in the study if the clinical crisis had a score of at least 50 points with the Clinical Grading Scale. Low-risk subjects were included provided they did not belong to a family with known MH susceptibility, they had not developed any signs of MH at previous anaesthetics, and they did not suffer from any neuromuscular disease. For inclusion of both MH patients and low-risk subjects, at least 1 muscle bundle in the IVCT should have twitches of 10 mN (1 g) or more. For evaluation of individual tests, only muscle bundles with twitch heights of 10 mN (1 g) or more were used.
RESULTS: A total of 1502 probands had undergone IVCT because of a previous anaesthesia with symptoms and signs suggestive of MH. Of these, 119 had clinical scores of 50 and above. From these 119 MH-suspected patients and from 202 low-risk subjects, IVCT data were collected. Subsequently, 14 MH-suspected patients were excluded from further analysis for the following reasons: In 3 patients, the suspected MH episode could be fully explained by diseases other than MH; in 11 MHS patients, IVCT was incomplete (n = 1), data were lost (n = 3), or none of the muscle bundles fulfilled twitch criteria (n = 7). Of the remaining 105 MH-suspected patients, 89 were MHS, 10 MHEh, 5 MHEc, and one MHN. Thus, we observed a diagnostic sensitivity of the IVCT of 99.0% if the MHE group is considered susceptible (95% confidence interval 94.8-100.0%). Of the 202 low-risk subjects, 3 were MHS, 5 MHEh, 5 MHEc, and 189 MHN. This gives a specificity of the IVCT of 93.6% (95% confidence interval 89.2-96.5%).
CONCLUSION: The IVCT for diagnosis of MH susceptibility in Europe has a high sensitivity and a satisfactory specificity.

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Year:  1997        PMID: 9311391     DOI: 10.1111/j.1399-6576.1997.tb04820.x

Source DB:  PubMed          Journal:  Acta Anaesthesiol Scand        ISSN: 0001-5172            Impact factor:   2.105


  39 in total

1.  Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.

Authors:  Antonella Pirone; Johann Schredelseker; Petronel Tuluc; Elvira Gravino; Giuliana Fortunato; Bernhard E Flucher; Antonella Carsana; Francesco Salvatore; Manfred Grabner
Journal:  Am J Physiol Cell Physiol       Date:  2010-09-22       Impact factor: 4.249

Review 2.  [Central core myopathy: a juvenile and adult disease].

Authors:  H J Gdynia; A-D Sperfeld; C O Hanemann
Journal:  Nervenarzt       Date:  2007-04       Impact factor: 1.214

3.  Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation.

Authors:  Takahiro Tanabe; Makoto Fukusaki; Yoshiaki Terao; Kazunori Yamashita; Koji Sumikawa; Keiko Mukaida; Carlos A Ibarra; Ichizo Nishino
Journal:  J Anesth       Date:  2008-02-27       Impact factor: 2.078

Review 4.  A comprehensive review of malignant hyperthermia: Preventing further fatalities in orthopedic surgery.

Authors:  Jennifer L Smith; Meaghan A Tranovich; Nabil A Ebraheim
Journal:  J Orthop       Date:  2018-05-07

5.  Clinical utility gene card for: malignant hyperthermia.

Authors:  Henry Rosenberg; Henrik Rueffert
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

Review 6.  [Malignant hyperthermia].

Authors:  T Metterlein; F Schuster; B M Graf; M Anetseder
Journal:  Anaesthesist       Date:  2014-12       Impact factor: 1.041

7.  Genetic epidemiology of malignant hyperthermia in the UK.

Authors:  D M Miller; C Daly; E M Aboelsaod; L Gardner; S J Hobson; K Riasat; S Shepherd; R L Robinson; J G Bilmen; P K Gupta; M-A Shaw; P M Hopkins
Journal:  Br J Anaesth       Date:  2018-08-17       Impact factor: 9.166

8.  A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.

Authors:  Carlos A Ibarra Moreno; Natalia Kraeva; Elena Zvaritch; Lourdes Figueroa; Eduardo Rios; Leslie Biesecker; Filip Van Petegem; Philip M Hopkins; Sheila Riazi
Journal:  Br J Anaesth       Date:  2020-08-27       Impact factor: 9.166

9.  Malignant hyperthermia susceptibility in a patient with mitochondrial disorder.

Authors:  Josef Finsterer; Andrea Michalek-Sauberer; Romana Höftberger
Journal:  Metab Brain Dis       Date:  2009-09       Impact factor: 3.584

10.  Screening for mutations in the RYR1 gene in families with malignant hyperthermia.

Authors:  Viviane P Muniz; Helga C A Silva; Ana Maria C Tsanaclis; Mariz Vainzof
Journal:  J Mol Neurosci       Date:  2003       Impact factor: 3.444

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