Hyperthermie maligne et état infectieux d'origine appendiculaire. Peut-on les différencier en cours d'intervention ?

Strecker, G.; Adnet, P.; Forget, A.P.; Krivosic-Horber, R

doi:10.1016/s0750-7658(97)86407-6

Cited by 15 publications

(1 citation statement)

References 12 publications

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“…29,41,45 Anecdotal reports of MH occurring during or shortly after emergent surgery for acute appendicitis are not rare in the medical literature. [46][47][48][49][50][51][52][53][54] It seems thus reasonable to suggest that a 10-to 20-fold increased risk of MH secondary to succinylcholine use 42,43 might not be solely attributable to the effects of the drug on the intracellular calcium dynamics of genetically predisposed patients, but also to a threshold shift induced by fever or a concomitant inflammatory process like sepsis or trauma, priming the onset of MH. We deem our observation worthy of further investigation.…”

Section: Penetrance Of Malignant Hyperthermiamentioning

confidence: 99%

An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations

Moreno

Kraeva

et al. 2019

Anesthesiology

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M alignant hyperthermia (MH) is a rare life-threatening disorder caused by dysregulation of intracellular calcium homeostasis in skeletal muscle and triggered by exposure to certain anesthetics in genetically predisposed individuals. 1 A progressively better understanding of the pathomechanism of MH, advances in anesthesia monitoring, and the introduction of dantrolene have been crucial in reducing MH mortality, which remains around 10%. 2 Variants in ryanodine receptor 1 (RYR1), 3 calcium voltage-gated channel subunit alpha1 S (CACNA1S), 4-6 and in SH3 and cysteine rich domain 3 (STAC3) genes 7 are associated with MH. The RYR1 gene-encoding the Ca 2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1)-is the major MH-associated locus, involved in more than half of MH cases, whereas variants in CACNA1S and STAC3 account for less than 1%. At present, 48 RYR1 and 2 CACNA1S variants are aBStract Background: Malignant hyperthermia (MH) is a potentially lethal disorder triggered by certain anesthetics. Mutations in the ryanodine receptor 1 (RYR1) gene account for about half of MH cases. Discordance between the low incidence of MH and a high prevalence of mutations has been attributed to incomplete penetrance, which has not been quantified yet. The authors aimed to examine penetrance of MH-diagnostic RYR1 mutations and the likelihood of mutation carriers to develop MH, and to identify factors affecting severity of MH clinical expression. Methods: In this multicenter case-control study, data from 125 MH pedigrees between 1994 and 2017 were collected from four European registries and one Canadian registry. Probands (survivors of MH reaction) and their relatives with at least one exposure to anesthetic triggers, carrying one diagnostic RYR1 mutation, were included. Penetrance (percentage of probands among all genotype-positive) and the probability of a mutation carrier to develop MH were obtained. MH onset time and Clinical Grading Scale score were used to assess MH reaction severity. results: The overall penetrance of nine RYR1 diagnostic mutations was 40.6% (93 of 229), without statistical differences among mutations. Likelihood to develop MH on exposure to triggers was 0.25 among all RYR1 mutation carriers, and 0.76 in probands (95% CI of the difference 0.41 to 0.59). Penetrance in males was significantly higher than in females (50% [62 of 124] vs. 29.7% [30 of 101]; P = 0.002). Males had increased odds of developing MH (odds ratio, 2.37; 95% CI, 1.36 to 4.12) despite similar levels of exposure to trigger anesthetics. Proband's median age was 12 yr (interquartile range 6 to 32.5). conclusions: Nine MH-diagnostic RYR1 mutations have sex-dependent incomplete penetrance, whereas MH clinical expression is influenced by patient's age and the type of anesthetic. Our quantitative evaluation of MH penetrance reinforces the notion that a previous uneventful anesthetic does not preclude the possibility of developing MH.

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