Finally, we identified 5 individuals we would consider to be at risk for malignant hyperthermia due to rare variants in RYR1 and
CACNA1S. For those individuals, additional testing before general anesthesia or avoidance ofanesthetic medications that are contraindicated for malignant hyperthermia-susceptible patients may be advisable.
Mutations of the RYR1 and
CACNA1S genes are associated with MH and 42 different RYR1 mutations and 2
CACNA1S mutations have been identified to date [5 ].
Mutations in RYR1 and the a1 subunit of DHPR (
CACNA1S) are linked to MH, central core disease and multiminicore disease (1,2,5,6).
These may include SCN4A (chromosome 17g11.2-g24)(27),
CACNA1S (alpha 1A subunit, dihydropyridine receptor) on Chromosome 1q32(28, 29), CACNA2 (chromosome 7g21-q22)(30) and other genes located on chromosome 3 and 5 of the human genome.