Evaluation of malignant hyperthermia features in patients with pathogenic or likely pathogenic RYR1 variants disclosedthrough a population genomic screening program.

Results demonstrate a low frequency of classic intra-anesthetic hypermetabolic phenotypes in an unselected population with actionable RYR1 variants. Further research on the actionability of screening for MH susceptibility in unselected populations, including economic impact, predictors of MH episodes, and expanded clinical phenotypes, is necessary.