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Canadian Journal of Anesthesia/Journal canadien d'anesthésie

Erschienen in:

19.02.2019 | Case Reports / Case Series

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

verfasst von: Elena Zvaritch, PhD, Robyn Gillies, MB, BS, FANZCA, Natalia Kraeva, PhD, Maxime Richer, MD, PhD, Heinz Jungbluth, MD, PhD, Sheila Riazi, MSc, MD

Erschienen in: Canadian Journal of Anesthesia/Journal canadien d'anesthésie | Ausgabe 5/2019

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Abstract

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 life-threatening 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.

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Titel: Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series
verfasst von: Elena Zvaritch, PhD
Robyn Gillies, MB, BS, FANZCA
Natalia Kraeva, PhD
Maxime Richer, MD, PhD
Heinz Jungbluth, MD, PhD
Sheila Riazi, MSc, MD
Publikationsdatum: 19.02.2019
Verlag: Springer International Publishing
Erschienen in: Canadian Journal of Anesthesia/Journal canadien d'anesthésie / Ausgabe 5/2019
Print ISSN: 0832-610X
Elektronische ISSN: 1496-8975
DOI: https://doi.org/10.1007/s12630-019-01320-z

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