Fever‐induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene

Molenaar, J.; Voermans, Nicol C.; Hoeve, B.J.A. van; Kamsteeg, Erik‐Jan; Kluijtmans, Laj; Küsters, Benno; Jungbluth, Heinz; Engelen, B.G.M. van

doi:10.1111/imj.12498

Cited by 26 publications

(18 citation statements)

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“…8026C > T (p.Arg2676Trp) (on two alleles)11YesNoPathogenicLikely pathogenicGillard [33]; Girard [34] for first mutationGuis (2004) [35] for second mutationc.2488C > T (p.Arg830Trp)c.10219G > A (p.Ala3407Thr) (on two alleles)11NoNoVUSVUSSnoeck [21]Molenaar [36]c.4178A > G (p.Lys1393Arg)c.14210G > A (p.Arg4737Gln) (on two alleles)11NoVUSLikely pathogenicDlamini [5]Monnier [37]; Gomez [38]c.4711A > G (p.Ile1571Val)c.10097G > A (p.Arg3366His)c.11798A > G (p.Tyr3933Cys) (on one allele)22NoVUSVUSVUSTammaro [39]; Kraeva [28]Duarte [40]; Kraeva [28]Gillies [41]; Kraeva [28]c.6385G > A (p.Asp2129Asn)11NoVUSDlamini [5]c.6502G > A (p.Val2168Met)11YesPathogenicManning [42]; Girard [34]c.6617C > T (p.Thr2206Met)11YesPathogenicManning [42]; Murayama [43]c.6838G > A (p.Val2280Ile)11NoLikely benignGalli [44]c.7025A > G (p.Asn2...…”

Section: Resultsmentioning

confidence: 99%

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

et al. 2019

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ObjectiveThe histopathological features of malignant hyperthermia (MH) and non-anaesthetic (mostly exertional) rhabdomyolysis (RM) due to RYR1 mutations have only been reported in a few cases.MethodsWe performed a retrospective multi-centre cohort study focussing on the histopathological features of patients with MH or RM due to RYR1 mutations (1987–2017). All muscle biopsies were reviewed by a neuromuscular pathologist. Additional morphometric and electron microscopic analysis were performed where possible.ResultsThrough the six participating centres we identified 50 patients from 46 families, including patients with MH (n = 31) and RM (n = 19). Overall, the biopsy of 90% of patients showed one or more myopathic features including: increased fibre size variability (n = 44), increase in the number of fibres with internal nuclei (n = 30), and type I fibre predominance (n = 13). Abnormalities on oxidative staining, generally considered to be more specifically associated with RYR1-related congenital myopathies, were observed in 52%, and included unevenness (n = 24), central cores (n = 7) and multi-minicores (n = 3). Apart from oxidative staining abnormalities more frequently observed in MH patients, the histopathological spectrum was similar between the two groups. There was no correlation between the presence of cores and the occurrence of clinically detectable weakness or presence of (likely) pathogenic variants.ConclusionsPatients with RYR1-related MH and RM exhibit a similar histopathological spectrum, ranging from mild myopathic changes to cores and other features typical of RYR1-related congenital myopathies. Suggestive histopathological features may support RYR1 involvement, also in cases where the in vitro contracture test is not informative.Electronic supplementary materialThe online version of this article (10.1007/s00415-019-09209-z) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

et al. 2019

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“…9 Of the above triggers, influenza A presents a particular concern as it has a highly aggressive onset with fast surge in the body temperature, accompanied by rhabdomyolysis. [18][19][20] Awake MH episodes are sporadic and in the majority of cases, the MH status of the patients was deduced retrospectively; only few hitherto published cases concerned individuals with personal or family history of MH. 16,17 In contrast to previous reports, where the link between MH crises and awake MH episodes was difficult to prove, the cases reported here confirm the close connection between MH and the awake MH episodes.…”

Section: Discussionmentioning

confidence: 99%

Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series

Zvaritch

Gillies

Kraeva

et al. 2019

Can J Anesth/J Can Anesth

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Purpose The present report of two fatal awake malignant hyperthermia (MH) episodes in an MH susceptible (MHS) family is intended to raise awareness among medical personnel and MHS individuals to the possibility of lifethreatening non-anesthesia-triggered MH episodes and to provide a strong incentive for development of effective preventive measures.Clinical features Two young athletic males (28 and 16 yr old), members of the same extended family with a history of anesthesia-related MH episodes and deaths, succumbed ten years apart on two different continents, with symptoms unrelated to anesthesia but strikingly similar to typical anesthetic-induced MH. Both suffered an abrupt surge in body temperature, tachycardia, tachypnea, muscle rigidity, hyperkalemia, and respiratory and metabolic acidosis. Despite aggressive resuscitation attempts, both developed cardiac arrest and died shortly upon arrival to hospital emergency departments. Autopsy analyses were negative for drugs, alcohol, or bacterial infection. Individual and familial genetic analyses revealed a novel, potentially pathogenic RYR1 variant (p.Gly159Arg) that co-segregates with the MHS phenotype in the family. Both fatal awake MH episodes are hypothesized to have been triggered by physical exertion compounded with a febrile illness that in one case was due to influenza type A. Conclusions Life-threatening awake MH episodes may develop in some MHS individuals in the absence of anesthetic triggers. Potential triggers can be physical exertion in combination with a febrile illness. Malignant hyperthermia susceptible patients are recommended to be vaccinated against flu and restrict physical activities when febrile, wear an MH alert bracelet, and inform medical personnel of their MH history. Oral dantrolene is suggested to be available to MHS patients for administration with the early signs of awake MH. RésuméObjectif Ce compte-rendu de deux épisodes fatals d'hyperthermie maligne (HM) survenus en communauté, sans anesthésie, dans une famille susceptible à l'HM

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“…Family counselling is vital to identify potentially MH-susceptible relatives [1] We performed a systematic literature review (including the patients in the studies mentioned above), based on a Pubmed search with "RYR1" and "rhabdomyolysis". This resulted in identification of several case report and small series [1,8,[21][22][23][24][25][26], and two review article [27,28] Subsequently, we also included cases from references of these articles [20,26,[29][30][31][32][33][34] and added our recent letter by Snoeck et al [35]. Finally, we added two patients from our paper on the spectrum of RYR1 related myopathies by Snoeck et al who were not included in any other publication (patients 14 and 52 [1]).…”

Section: Ryr1-related (Exertional) Rhabdomyolysis ((E)rm)mentioning

confidence: 99%

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

2016

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Fever‐induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene

Cited by 26 publications

References 7 publications

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

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