Conditions associated with malignant hyperthermia or rhabdomyolysis related to anesthesia

Condition	Reported problems with anesthesia	Genes potentially related to MH or anesthesia induced rhabdomyolysis	Recommendations for anesthesia
Condition	Reported problems with anesthesia		Volatile anesthetics	Succinylcholine
Conditions associated with MH
MHS, no associated syndrome	MH reactions	RYR1 CACNA1S STAC3	Contraindicated	Contraindicated
Exertional rhabdomyolysis	MH in some patients with RYR1 pathogenic variants	RYR1	Contraindicated in patients with RYR1 pathogenic variants or rhabdomyolysis in unexpected situations*	Contraindicated in patients with RYR1 pathogenic variants or rhabdomyolysis in unexpected situations*
Myopathies
Central core myopathy	High incidence of MH in patients with RYR1 receptor abnormality	RYR1	Contraindicated	Contraindicated
Multiminicore myopathy	High incidence of MH in patients with biallelic RYR1 pathogenic variants	RYR1	Contraindicated	Contraindicated
King-Denborough syndrome	High incidence of MH in patients with RYR1 receptor abnormality	RYR1	Contraindicated	Contraindicated
STAC3 (Native American) myopathy	High incidence of MH in patients homozygous for STAC3 pathogenic variant	STAC3	Contraindicated	Contraindicated
Congenital myopathy with cores and rods	MH in patient with multiple RYR1 pathogenic variants	RYR1	Contraindicated in patients with RYR1 pathogenic variants*	Contraindicated
Nemaline myopathy	Uncomplicated use of succinylcholine and potent inhalational anesthesia has been reported, however there is insufficient evidence to support safety of succinylcholine	RYR1	Contraindicated in patients with RYR1 pathogenic variants*	Contraindicated
Centronuclear myopathy (CNM)	MH episodes likely only in patients with RYR1 pathogenic variants (and possibly CACNA1S pathogenic variants, though these patients also typically have cores) and not in other subtypes	RYR1 CACNA1S	Contraindicated in patients with RYR1 pathogenic variants*	Contraindicated in patients with RYR1 pathogenic variants*
Congenital fiber type disproportion (CFTD)	No reports of MH; 10 to 20% of patients with CFTD may have RYR1 pathogenic variants	RYR1 CACNA1S	Contraindicated in patients with RYR1 pathogenic variants*	Contraindicated in patients with RYR1 pathogenic variants*
Periodic paralysis	MH in patients with RYR1 pathogenic variant MHS has not been associated with CACNA1S-linked hypokalemic periodic paralysis Atypical normokalemic periodic paralysis has been reported in a small number of patients with RYR1 pathogenic variants	RYR1 CACNA1S	Contraindicated in patients with RYR1 pathogenic variants*	Contraindicated in patients with RYR1 pathogenic variants*
HyperCKemia	MH in patients with RYR1 pathogenic variants	RYR1	Contraindicated in patients with RYR1 pathogenic variants*	Contraindicated in patients with RYR1 pathogenic variants*
Conditions associated with rhabdomyolysis
Exertional rhabdomyolysis	MH in some patients with RYR1 pathogenic variants	RYR1	Contraindicated in patients with RYR1 pathogenic variants or rhabdomyolysis in unexpected situations*	Contraindicated in patients with RYR1 pathogenic variants or rhabdomyolysis in unexpected situations*
Dystrophinopathies	Patients with DMD pathogenic variants: Severe hyperkalemia with succinylcholine; possible rhabdomyolysis or hyperkalemic cardiac arrest following volatile anesthetics	DMD	Only if essential, in limited amounts, eg, for inhalational induction to establish venous access	Contraindicated
Myoadenylate deaminase deficiency	Rhabdomyolysis in patients homozygous for AMPD1 pathogenic variant	AMPD1	Try to avoid in individuals homozygous for AMPD1 pathogenic variant	Try to avoid
Myophosphorylase deficiency (McArdle disease, glycogen storage disease V)	In patients with PYGM pathogenic variant succinylcholine may exacerbate underlying symptoms	PYGM	Not contraindicated	Try to avoid Avoid in patients with PYGM pathogenic variant*
Carnitine palmitoyl transferase type 2 deficiency	Perioperative rhabdomyolysis in patients with CPT2 pathogenic variants	CPT2	Not contraindicated; no evidence of superior safety with propofol	Try to avoid Avoid in patients with CPT2 pathogenic variant*
Other conditions
Osteogenesis imperfecta	Some reports of fever with anesthesia		OK to use	OK to use
Arthrogryposis multiplex congenita	Some reports of fever with anesthesia Most cases have neurologic, not myopathic etiology	RYR1, rare Most cases have neurologic, not myopathic etiology	OK to use in absence of RYR1 pathogenic variants	Avoid if suspected or confirmed myopathic etiology
Myotonia	Prolonged muscle rigidity after succinylcholine Possible rigidity after anticholinesterase (NMBA reversal)		OK to use	Avoid succinylcholine or anticholinesterase reversal agents
Neuroleptic malignant syndrome	Idiosyncratic reaction to antidopaminergics (eg, haloperidol, droperidol), usually more than 24 hours after administration		OK to use	Contraindicated in patients with rhabdomyolysis OK to use in patients without rhabdomyolysis

MH: malignant hyperthermia; MHS: malignant hyperthermia susceptible; RYR1: ryanodine receptor 1; CACNA1S: calcium voltage-gated channel subunit alpha1 S; STAC3: SH3 and cysteine-rich domains 3; DMD: dystrophin; AMPD1: Adenosine monophosphate deaminase-1; PYGM: phosphorylase, glycogen, muscle; CPT2: carnitine palmitoyltransferase 2.

* This recommendation is applicable to patients with the specified pathogenic variant and to patients with unknown genetic test results.

Graphic 65645 Version 11.0

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Conditions associated with malignant hyperthermia or rhabdomyolysis related to anesthesia