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Malignant hyperthermia

Philip M Hopkins1, Pawan K Gupta2, Jonathan G Bilmen2

  • 1Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, United Kingdom; Malignant Hyperthermia Investigation Unit, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.

Handbook of Clinical Neurology
|November 22, 2018
PubMed

Insights

Malignant hyperthermia (MH) is a severe reaction during anesthesia, triggered by specific drugs in susceptible individuals. Prompt management is crucial as untreated MH is fatal.

Area of Science:

  • Anesthesiology
  • Genetics
  • Physiology

Background:

  • Malignant hyperthermia (MH) is a distinct heat illness occurring during general anesthesia.
  • Differential diagnosis of MH is complicated by the inability to assess mental status under anesthesia.
  • MH affects genetically predisposed individuals exposed to specific anesthetic agents.

Purpose of the Study:

  • To summarize the clinical features and management of Malignant hyperthermia.
  • To review the current understanding of the pathophysiology of MH.
  • To discuss the molecular genetics underlying MH.

Main Methods:

  • Review of clinical features and management strategies for MH.
  • Analysis of current research on the pathophysiology of MH.
  • Examination of genetic defects associated with MH.

Main Results:

  • MH results from genetic defects affecting skeletal muscle excitation-contraction coupling and calcium regulation.
  • The RYR1 gene is most commonly implicated in MH.
  • Consequences include hypermetabolism, sustained muscle contraction, and potential for fatal outcomes if untreated.

Conclusions:

  • MH is a life-threatening condition requiring prompt recognition and management.
  • Understanding the genetic basis and pathophysiology is key to improving patient outcomes.
  • Further research into RYR1 and other genetic factors is essential.
Keywords:
Malignant hyperthermiaexcitation-contraction couplinggeneticsryanodine receptor calcium release channelskeletal muscle

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