Anesthesia Management in a Patient With a History of Fulminant Malignant Hyperthermia and a Homozygous RYR1 p.Arg530His Variant Undergoing Laparoscopic Surgery: A Case Report

31 May 2026 : Case report Japan

Rare disease

Yuki Murao

^{AEF 1}, Keiko Mukaida

^{BCEFG 2}, Hiroshi Kondo^{B 1}, Yukiko Nao^{BC 1}, Masaya Ueki^{B 1}, Ken Hashimoto^{BC 1}, Tsuyoshi Ikeda

^{BCD 2}, Hirotsugu Miyoshi^{BCD 2}, Yasuo M. Tsutsumi^{DEF 2*}

DOI: 10.12659/AJCR.953046

Am J Case Rep 2026; 27:e953046

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Table 1 Variant (p.Arg530His) details.

General information	Position (GRHCh38)	chr19: 38455463
	HGVS.c	c.1589G>A
	AA changes	p.Arg530His
	type	SNV (single nucleotide variant)
	dbSNP (rs) number	rs111888148
Clinical significance	ClinVar^*	Likely pathogenic
Clinical significance	EMHG ^**	Likely pathogenic
MAF (%)(Allele count/Allele number)	ToMMo (61K JPN)	0 (0/122 212)
	gnomAD v4.1 (Exome)	0.000029 (42/1 461 892)
	Homozygous individuals	0
EMHG – European Malignant Hyperthermia Group; ToMMo – Tohoku Medical Megabank Organization; gnomAD – Genome Aggregation Database; MAF – minor Allele frequency. ^* ; ^** .

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