Profile of malignant hyperthermia susceptibility reports confirmed with muscular contracture test in Brazil

Helga Cristina Almeida da Silva; Gisele Ferreira; Gislene Rodrigues; Joilson Moura dos Santos; Pamela Vieira Andrade; Alexandre Hortense; Marcelo Vaz Perez; José Luiz Gomes do Amaral

doi:10.1016/j.bjane.2018.09.009

Scientific Article

Profile of malignant hyperthermia susceptibility reports confirmed with muscular contracture test in Brazil

Perfil dos relatos de suscetibilidade à hipertermia maligna confirmados com teste de contratura muscular no Brasil

Helga Cristina Almeida da Silva; Gisele Ferreira; Gislene Rodrigues; Joilson Moura dos Santos; Pamela Vieira Andrade; Alexandre Hortense; Marcelo Vaz Perez; José Luiz Gomes do Amaral

http://dx.doi.org/10.1016/j.bjane.2018.09.009 Braz J Anesthesiol, vol.69, n2, p.152-159, 2019

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Abstract

Abstract Background and objectives: Malignant hyperthermia is an autosomal dominant hypermetabolic pharmacogenetic syndrome, with a mortality rate of 10%–20%, which is triggered by the use of halogenated inhaled anesthetics or muscle relaxant succinylcholine. The gold standard for suspected susceptibility to malignant hyperthermia is the in vitro muscle contracture test in response to halothane and caffeine. The determination of susceptibility in suspected families allows the planning of safe anesthesia without triggering agents for patients with known susceptibility to malignant hyperthermia by positive in vitro muscle contracture test. Moreover, the patient whose suspicion of malignant hyperthermia was excluded by the in vitro negative muscle contracture test may undergo standard anesthesia. Susceptibility to malignant hyperthermia has a variable manifestation ranging from an asymptomatic subject presenting a crisis of malignant hyperthermia during anesthesia with triggering agents to a patient with atrophy and muscle weakness due to central core myopathy. The aim of this study is to analyze the profile of reports of susceptibility to malignant hyperthermia confirmed with in vitro muscle contracture test. Method: Analysis of the medical records of patients with personal/family suspicion of malignant hyperthermia investigated with in vitro muscle contracture test, after given written informed consent, between 1997 and 2010. Results: Of the 50 events that motivated the suspicion of malignant hyperthermia and family investigation (sample aged 27 ± 18 years, 52% men, 76% white), 64% were investigated for an anesthetic malignant hyperthermia crisis, with mortality rate of 25%. The most common signs of a malignant hyperthermia crisis were hyperthermia, tachycardia, and muscle stiffness. Susceptibility to malignant hyperthermia was confirmed in 79.4% of the 92 relatives investigated with the in vitro muscle contracture test. Conclusion: The crises of malignant hyperthermia resembled those described in other countries, but with frequency lower than that estimated in the country.

Keywords

Malignant hyperthermia, Anesthesia, Epidemiology, Brazil

Resumo

Resumo Justificativa e objetivo: Hipertermia maligna é uma síndrome farmacogenética hipermetabólica, autossômica dominante, com mortalidade entre 10%-20%, desencadeada por uso de anestésico inalatório halogenado ou relaxante muscular succinilcolina. O padrão-ouro para pesquisa de suscetibilidade à hipertermia maligna é o teste de contratura muscular in vitro em resposta ao halotano e à cafeína. A determinação da suscetibilidade nas famílias suspeitas permite planejar anestesias seguras sem agentes desencadeantes para os pacientes confirmados como suscetíveis à hipertermia maligna pelo teste de contratura muscular in vitro positivo. Além disso, o paciente no qual a suspeita de hipertermia maligna foi excluída pelo teste de contratura muscular in vitro negativo pode ser anestesiado de forma convencional. Suscetibilidade à hipertermia maligna tem manifestação variável, desde indivíduo assintomático que apresenta crise de hipertermia maligna durante anestesia com agentes desencadeantes, até paciente com atrofia e fraqueza muscular por miopatia central core disease. O objetivo deste trabalho é analisar o perfil dos relatos de suscetibilidade à hipertermia maligna confirmados com teste de contratura muscular in vitro. Método: Análise das fichas de notificação dos pacientes com suspeita pessoal/familiar de hipertermia maligna investigados com teste de contratura muscular in vitro, após assinatura do termo de consentimento, entre 1997-2010. Resultados: Dos 50 eventos que motivaram a suspeita de hipertermia maligna e a investigação familiar (amostra com 27 ± 18 anos, 52% homens, 76% brancos), 64% foram investigados por crise de hipertermia maligna anestésica, com mortalidade de 25%. Sinais mais comuns da crise de hipertermia maligna foram hipertermia, taquicardia e rigidez muscular. Suscetibilidade à hipertermia maligna foi confirmada em 79,4% dos 92 parentes investigados com teste de contratura muscular in vitro. Conclusão: Crises de hipertermia maligna assemelharam-se às descritas em outros países, porém com frequência inferior à estimada no país.

Palavras-chave

Hipertermia maligna, Anestesia, Epidemiologia, Brasil

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Profile of malignant hyperthermia susceptibility reports confirmed with muscular contracture test in Brazil

Perfil dos relatos de suscetibilidade à hipertermia maligna confirmados com teste de contratura muscular no Brasil

Helga Cristina Almeida da Silva; Gisele Ferreira; Gislene Rodrigues; Joilson Moura dos Santos; Pamela Vieira Andrade; Alexandre Hortense; Marcelo Vaz Perez; José Luiz Gomes do Amaral

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