Malignant Hyperthermia: A Case Report

Detalhes bibliográficos
Autor(a) principal: Sousa, Mara Diva
Data de Publicação: 2020
Outros Autores: Peixoto, Rita, Silva, Rui, Guedes, Luísa
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://doi.org/10.25751/rspa.19213
Resumo: Malignant hyperthermia (MH) is a very rare inherited disorder. The incidence of MH is 1:100 000 although the prevalence of susceptibility to MH is estimated at 1:2000 to 1:3000. MH has a mortality rate of 9.5%. MH is an autosomal dominant disorder and three genes account for the genetic basis of 70% of the patients - RYR1, CACNA1S and STAC3. MH is characterized by an increased body metabolism with hyperthermia, increased carbon dioxide production, skeletal muscle rigidity along with rhabdomyolysis, hyperkalaemia and acidosis with hyperlactacidaemia. These occur when a MH-susceptible individual is exposed to some known triggers such potent volatile anaesthetics and succinylcholine. We present a case report of MH in 22-year-old male ASA II, without any personal or familial MH susceptibility known, admitted to elective dental extraction who suffered a MH crisis. The patient was treated for MH and demonstrated a significant clinical improvement with the administration of dantrolene.
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spelling Malignant Hyperthermia: A Case ReportHipertermia Maligna: Um Caso ClínicoCaso ClínicoMalignant hyperthermia (MH) is a very rare inherited disorder. The incidence of MH is 1:100 000 although the prevalence of susceptibility to MH is estimated at 1:2000 to 1:3000. MH has a mortality rate of 9.5%. MH is an autosomal dominant disorder and three genes account for the genetic basis of 70% of the patients - RYR1, CACNA1S and STAC3. MH is characterized by an increased body metabolism with hyperthermia, increased carbon dioxide production, skeletal muscle rigidity along with rhabdomyolysis, hyperkalaemia and acidosis with hyperlactacidaemia. These occur when a MH-susceptible individual is exposed to some known triggers such potent volatile anaesthetics and succinylcholine. We present a case report of MH in 22-year-old male ASA II, without any personal or familial MH susceptibility known, admitted to elective dental extraction who suffered a MH crisis. The patient was treated for MH and demonstrated a significant clinical improvement with the administration of dantrolene.A hipertermia maligna (HM) é uma doença genética muito rara. A sua incidência é de 1:100000, embora a prevalência de suscetibilidade à doença seja estimada em 1:2000 a 1:3000. A HM tem uma taxa de mortalidade de 9,5%. Trata-se de um distúrbio autossómico dominante e 3 genes são responsáveis por 70% dos casos – RYR1, CACNA1S e STAC3. Caracteriza-se por um aumento do metabolismo corporal com hipertermia, produção aumentada de dióxido de carbono, rigidez músculo-esquelética, rabdomiólise, hipercalémia e acidose com hiperlactacidémia. A crise de HM acontece quando indivíduos suscetíveis são expostos a determinados triggers como os anestésicos voláteis e a succinilcolina. Apresentamos um caso clínico de um doente de 22 anos, sexo masculino, ASA II, sem história pessoal ou familiar de suscetibilidade à HM conhecida, admitido para cirurgia eletiva de extração dentária, que apresentou uma crise de HM. O doente apresentou melhoria clinica significativa após a administração de dantroleno.Sociedade Portuguesa de Anestesiologia2020-04-02T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25751/rspa.19213eng0871-6099Sousa, Mara DivaPeixoto, RitaPeixoto, RitaSilva, RuiGuedes, Luísainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-23T15:34:49Zoai:ojs.revistas.rcaap.pt:article/19213Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:04:17.158608Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Malignant Hyperthermia: A Case Report
Hipertermia Maligna: Um Caso Clínico
title Malignant Hyperthermia: A Case Report
spellingShingle Malignant Hyperthermia: A Case Report
Sousa, Mara Diva
Caso Clínico
title_short Malignant Hyperthermia: A Case Report
title_full Malignant Hyperthermia: A Case Report
title_fullStr Malignant Hyperthermia: A Case Report
title_full_unstemmed Malignant Hyperthermia: A Case Report
title_sort Malignant Hyperthermia: A Case Report
author Sousa, Mara Diva
author_facet Sousa, Mara Diva
Peixoto, Rita
Silva, Rui
Guedes, Luísa
author_role author
author2 Peixoto, Rita
Silva, Rui
Guedes, Luísa
author2_role author
author
author
dc.contributor.author.fl_str_mv Sousa, Mara Diva
Peixoto, Rita
Peixoto, Rita
Silva, Rui
Guedes, Luísa
dc.subject.por.fl_str_mv Caso Clínico
topic Caso Clínico
description Malignant hyperthermia (MH) is a very rare inherited disorder. The incidence of MH is 1:100 000 although the prevalence of susceptibility to MH is estimated at 1:2000 to 1:3000. MH has a mortality rate of 9.5%. MH is an autosomal dominant disorder and three genes account for the genetic basis of 70% of the patients - RYR1, CACNA1S and STAC3. MH is characterized by an increased body metabolism with hyperthermia, increased carbon dioxide production, skeletal muscle rigidity along with rhabdomyolysis, hyperkalaemia and acidosis with hyperlactacidaemia. These occur when a MH-susceptible individual is exposed to some known triggers such potent volatile anaesthetics and succinylcholine. We present a case report of MH in 22-year-old male ASA II, without any personal or familial MH susceptibility known, admitted to elective dental extraction who suffered a MH crisis. The patient was treated for MH and demonstrated a significant clinical improvement with the administration of dantrolene.
publishDate 2020
dc.date.none.fl_str_mv 2020-04-02T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://doi.org/10.25751/rspa.19213
url https://doi.org/10.25751/rspa.19213
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 0871-6099
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Anestesiologia
publisher.none.fl_str_mv Sociedade Portuguesa de Anestesiologia
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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