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DOI: 10.1055/s-0045-1806734
STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia
Support The authors declare that HCAS has received financial support from Coordenação de Aperfeiç oamento de Pessoal de Nível Superior (CAPES; finance code 001) and Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP; 2021/06180-7; 1996/02222-3) to conduct the present study.
Abstract
STAC3 gene congenital myopathy and malignant hyperthermia (MH) represent an important crossroads between neurology and anesthesia, where the prompt recognition of the clinical characteristics, and the collaboration between neurologists and anesthesiologists, are essential to early diagnosis and prevention of adverse critical events. This gene is associated with a congenital myopathy first reported as Native American myopathy (NAM), a rare condition characterized by dysmorphisms, contractures, muscular complaints, and scoliosis. As a rare pharmacogenetic hypermetabolic disease, MH is triggered by halogenated agents and/or succinylcholine, linked to variants in the RYR1, CACNA1S, or STAC3 genes. Our objective was to analyze the characteristics of a Brazilian case series of STAC3 gene myopathy associated with MH and to review previous reports. We report three MH crises, in two boys and one girl, 2 to 15 years old. All of them received halogenated agents and one additionally received succinylcholine. Two patients presented two to four previous uneventful general anesthesia. The MH crises in this series of patients with STAC3 gene mutations demonstrated variable clinical characteristics (expressivity) and occurrence (penetrance). Neuromuscular patients with findings suggestive of STAC3 myopathy should increase diagnostic suspicion regarding the risk of MH. Conversely, the careful evaluation of the anesthetic antecedents of neuromuscular patients can help to restrict the candidate genes. Additionally, Brazilian neurologists can notify neurological patients with antecedents of adverse events during anesthesia to the Brazilian Registry of Neurological Diseases (Registro Brasileiro de Doenças Neurológicas, REDONE, in Portuguese).
Authors' Contributions
Conceptualization: HCAS; Data curation: MSS, RN, MRA, TPCDM, MLM, TOS, SMSA, JSAM, MCMC, HCAS; Funding acquisition: HCAS; Methodology: HCAS; Project administration: HCAS; Writing – original draft: HCAS; Writing – review & editing: MSS, RN, MRA, TPCDM, MLM, TOS, SMSA, JSAM, MCMC, HCAS.
Editor-in-Chief: Hélio A. G. Teive.
Associate Editor: Edmar Zanoteli.
Publikationsverlauf
Eingereicht: 15. Oktober 2024
Angenommen: 17. Dezember 2024
Artikel online veröffentlicht:
22. April 2025
© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)
Thieme Revinter Publicações Ltda.
Rua Rego Freitas, 175, loja 1, República, São Paulo, SP, CEP 01220-010, Brazil
Mary Santos Silva, Ricardo Nakamura, Marcia Rosana Arjona, Thue Peres Colferai Del Monaco, Mauricio Luiz Malito, Taís Oliveira Sampaio, Samantha Lopes de Oliveira, Juliana Silva de Almeida Magalhães, Marcela Camara Machado-Costa, Helga Cristina Almeida Silva. STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia. Arq Neuropsiquiatr 2025; 83: s00451806734.
DOI: 10.1055/s-0045-1806734
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