Advertisement

Hot Stuff!

Triggering drugs, ryanodine receptor, malignant hyperthermia
  • Cornelius B. Groenewald
  • Juraj Sprung

Abstract

This case discusses a drug–gene interaction. Administration of the triggering drugs isoflurane and succinylcholine interacted with a genetic variation of the ryanodine receptor causing malignant hyperthermia during general anesthesia.

Keywords

Drug-gene interaction Pharmacgenomic Malignant hyperthermia MH Ryanodine receptor RYR1 Mutation Chromosome 19 Chromosome 7 Chromosome 1 Triggering agent Enflurane Methoxyflurane Isoflurane Sevoflurane Desflurane Halothane Succinylcholine Dantrolene Hypercapnia Metabolic acidosis Hyperkalemia Hypercalcemia Tachycardia Hypertension Hyperthermia Rigidity Calcium channel Sarcoplasmic reticulum Dihydropyridine receptor Autosomal dominant Malignant Hyperthermia Association of the United States 

References

  1. 1.
    Zhou J, Allen PD, Pessah IN, et al. Neuromuscular disorders and malignant hyperthermia. In: Miller RD, editor. Miller’s anesthesia, vol. 1. 7th ed. Philadelphia: Churchill Livingstone; 2010. p. 1171–96.CrossRefGoogle Scholar
  2. 2.
    Larach MG, Localio AR, Allen GC, et al. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology. 1994;80:771–9.PubMedCrossRefGoogle Scholar
  3. 3.
    Brandom BW. The genetics of malignant hyperthermia. Anesthesiol Clin North America. 2005;23:615–9.PubMedCrossRefGoogle Scholar
  4. 4.
    Carpenter D, Robinson RL, Quinnell RJ, et al. Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009;103:538–48.PubMedCrossRefGoogle Scholar
  5. 5.
    Sambuughin N, Holley H, Muldoon S, et al. Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the North American population. Anesthesiology. 2005;102:515–21.PubMedCrossRefGoogle Scholar
  6. 6.
    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.PubMedCrossRefGoogle Scholar
  7. 7.
    Malignant Hyperthermia Association of the United States [Internet]. Guideline: testing for malignant hyperthermia susceptibility [cited 14 Sep 2009]. Available from: http://medical.mhaus.org/PubData/PDFs/treatmentposter.pdf.

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Department of Anesthesiology & Pain MedicineSeattle Children’s Hospital and the University of WashingtonSeattleUSA
  2. 2.Department of AnesthesiologyMayo ClinicRochesterUSA

Personalised recommendations