Anesthesia and counseling for individuals with a pathogenic variant in a malignant hyperthermia susceptibility gene (RYR1, CACNA1S, or STAC3)

For an individual with a personal or family history of MH/MHS who tests positive for a pathogenic or likely pathogenic variant in the RYR1 or CACNA1S gene, the diagnosis of MHS is confirmed; if a pathogenic or likely pathogenic variant is found as a secondary (incidental) finding, the individual should be considered to have MHS until/unless proven otherwise. STAC3-related MHS is inherited in an autosomal recessive pattern, and interpretation of this result requires further testing; genetic counseling may be recommended.

There are many anesthetic options for individuals with MHS. Additional information (complete lists of safe and unsafe anesthetics, frequently asked questions) is available in UpToDate or through an MHS organization such as the Malignant Hyperthermia Association of the United States (MHAUS; www.mhaus.org/).