Condition | Reported problems with anesthesia | Genes potentially related to MH or anesthesia induced rhabdomyolysis | Recommendations for 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:
| 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.Do you want to add Medilib to your home screen?