Abstract

Background Malignant hyperthermia (MH) is a complication of anaesthesia appearing as an acute potentially lethal hypermetabolic state in people carrying a genetic anomaly expressed in the skeletal muscle. MH susceptibility can be diagnosed by in vitro contracture test (IVCT) with halothane and caffeine requiring muscular biopsy, or by looking for the MH mutations directly in DNA extracted from the blood. Studies showed an influence of the type of mutation (genotype) on the various expressions (phenotypes) of the MH susceptibility. The aims of this study are to look for any correlation between the presence of a MH mutation and 1) the severity of the anesthetic complication and 2) the force of the contractures observed in the IVCT.

Highlights

  • Malignant hyperthermia (MH) is a complication of anaesthesia appearing as an acute potentially lethal hypermetabolic state in people carrying a genetic anomaly expressed in the skeletal muscle

  • MH susceptibility can be diagnosed by in vitro contracture test (IVCT) with halothane and caffeine requiring muscular biopsy, or by looking for the MH mutations directly in DNA extracted from the blood

  • The aims of this study are to look for any correlation between the presence of a MH mutation and 1) the severity of the anesthetic complication and 2) the force of the contractures observed in the IVCT

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Summary

Introduction

Malignant hyperthermia (MH) is a complication of anaesthesia appearing as an acute potentially lethal hypermetabolic state in people carrying a genetic anomaly expressed in the skeletal muscle. MH susceptibility can be diagnosed by in vitro contracture test (IVCT) with halothane and caffeine requiring muscular biopsy, or by looking for the MH mutations directly in DNA extracted from the blood. Studies showed an influence of the type of mutation (genotype) on the various expressions (phenotypes) of the MH susceptibility. The aims of this study are to look for any correlation between the presence of a MH mutation and 1) the severity of the anesthetic complication and 2) the force of the contractures observed in the IVCT

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