<i>STAC3</i> gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia
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 diagnos...
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Thieme Revinter Publicações
2025-03-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1806734 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Mary Santos Silva |
| collection | DOAJ |
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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). |
| format | Article |
| id | doaj-art-549b7c8bd3d04feb83af6958906be31f |
| institution | Kabale University |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-549b7c8bd3d04feb83af6958906be31f2025-08-20T03:34:20ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42272025-03-01830300100610.1055/s-0045-1806734<i>STAC3</i> gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesiaMary Santos Silva0https://orcid.org/0000-0001-5521-9809Ricardo Nakamura1https://orcid.org/0000-0001-6666-8466Marcia Rosana Arjona2https://orcid.org/0000-0002-2613-6649Thue Peres Colferai Del Monaco3https://orcid.org/0000-0002-2212-7112Mauricio Luiz Malito4https://orcid.org/0000-0003-2838-2963Taís Oliveira Sampaio5https://orcid.org/0009-0004-5803-1560Samantha Lopes de Oliveira6https://orcid.org/0009-0000-1460-4559Juliana Silva de Almeida Magalhães7https://orcid.org/0009-0002-1873-7556Marcela Camara Machado-Costa8https://orcid.org/0000-0001-6987-3086Helga Cristina Almeida Silva9https://orcid.org/0000-0002-9372-7019Universidade Federal de São Paulo, Escola Paulista de Medicina, Departamento de Anestesiologia, Dor e Medicina Intensiva, São Paulo SP, Brazil.Hospital e Maternidade Sepaco, São Paulo SP, Brazil.Associação de Assistência à Criança Deficiente, São Paulo SP, Brazil.Associação de Assistência à Criança Deficiente, São Paulo SP, Brazil.Associação de Assistência à Criança Deficiente, São Paulo SP, Brazil.Hospital Martagão Gesteira, Salvador BA, Brazil.Hospital Martagão Gesteira, Salvador BA, Brazil.Escola Bahiana de Medicina e Saúde Pública, Salvador BA, Brazil.Escola Bahiana de Medicina e Saúde Pública, Salvador BA, Brazil.Universidade Federal de São Paulo, Escola Paulista de Medicina, Departamento de Anestesiologia, Dor e Medicina Intensiva, São Paulo SP, Brazil. 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).http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1806734AnesthesiaMalignant HyperthermiaMuscular Diseases |
| spellingShingle | 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 <i>STAC3</i> gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia Arquivos de Neuro-Psiquiatria Anesthesia Malignant Hyperthermia Muscular Diseases |
| title | <i>STAC3</i> gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia |
| title_full | <i>STAC3</i> gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia |
| title_fullStr | <i>STAC3</i> gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia |
| title_full_unstemmed | <i>STAC3</i> gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia |
| title_short | <i>STAC3</i> gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia |
| title_sort | i stac3 i gene congenital myopathy and malignant hyperthermia a crossroads between neurology and anesthesia |
| topic | Anesthesia Malignant Hyperthermia Muscular Diseases |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0045-1806734 |
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