The genetics of malignant hyperthermia

Anesthesiol Clin North Am. 2005 Dec;23(4):615-9, viii. doi: 10.1016/j.atc.2005.08.006.

Abstract

The genetic evaluation of the ryanodine type one receptor (RYR1) gene is unlikely to be a useful screening test of malignant hyperthermia susceptibility. But when significant suspicion of malignant hyperthermia has been raised by well-documented clinical events or strong family history, the genetic evaluation of RYR1 could secure a diagnosis and indicate appropriate treatment for both the index patient and many relatives of all ages, including the youngest.

Publication types

  • Review

MeSH terms

  • Animals
  • Child
  • Gene Frequency
  • Humans
  • Malignant Hyperthermia / diagnosis
  • Malignant Hyperthermia / genetics*
  • Malignant Hyperthermia / prevention & control
  • Ryanodine Receptor Calcium Release Channel / genetics
  • Swine

Substances

  • Ryanodine Receptor Calcium Release Channel