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Malignant hyperthermia.

Henry Rosenberg1, Mark Davis, Danielle James

  • 1Department of Medical Education and Clinical Research, Saint Barnabas Medical Center, Livingston, NJ 07039, USA. HRosenberg@SBHCS.com

Orphanet Journal of Rare Diseases
|April 26, 2007
PubMed
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Malignant hyperthermia (MH) is a serious genetic muscle disorder triggered by anesthesia. Early recognition and dantrolene sodium treatment have drastically reduced MH mortality rates.

Area of Science:

  • Anesthesiology
  • Pharmacogenetics
  • Skeletal Muscle Physiology

Background:

  • Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle.
  • It triggers a hypermetabolic response to specific anesthetic agents and muscle relaxants.
  • MH incidence ranges from 1:5,000 to 1:100,000 anesthesias, with genetic abnormalities potentially affecting 1 in 3,000 individuals.

Purpose of the Study:

  • To summarize the clinical manifestations, pathophysiology, genetics, and management of Malignant hyperthermia.
  • To highlight the advancements in understanding and treating MH.
  • To emphasize the importance of early recognition and dantrolene sodium availability.

Main Methods:

  • Review of clinical signs including hyperthermia, tachycardia, acidosis, and rhabdomyolysis.

Related Experiment Videos

  • Discussion of the underlying pathophysiology involving uncontrolled myoplasmic calcium rise and ATP depletion.
  • Examination of genetic factors, primarily RYR-1 gene mutations, and diagnostic approaches like in vitro contracture testing.

    • Main Results:

    • MH is an autosomal dominant inherited syndrome in humans, linked to RYR-1 gene defects.
    • Over 90 RYR-1 mutations are identified, with at least 25 causing MH.
    • Mortality from MH has significantly decreased from over 80% to less than 5% due to improved understanding and treatment.

    Conclusions:

    • Early recognition of MH signs, particularly elevated end-expired carbon dioxide, is crucial for diagnosis.
    • Genetic testing for MH susceptibility is becoming more prevalent.
    • Dantrolene sodium is the specific antagonist for MH, and its availability is vital for patient safety during anesthesia.