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Malignant hyperthermia: Brazilian multidisciplinary study

Grant number: 21/06180-7
Support Opportunities:Regular Research Grants
Duration: May 01, 2022 - April 30, 2025
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Helga Cristina Almeida da Silva
Grantee:Helga Cristina Almeida da Silva
Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Associated researchers:Acary Souza Bulle Oliveira ; Adham do Amaral e Castro ; André Yui Aihara ; Cláudia Ferreira da Rosa Sobreira ; Eloara Vieira Machado Ferreira Alvares da Silva Campos ; Gustavo José da Silva Pereira ; Mariz Vainzof ; Pamela Vieira de Andrade

Abstract

Malignant hyperthermia (MH) is a pharmacogenetic skeletal muscle disease expressed as a hypermetabolic response to volatile anesthetics and/or the depolarizing muscle relaxant succinylcholine and, rarely, to intense physical exercise and ambient heat. Genes linked to the excitation-muscle contraction process are involved, especially the ryanodine receptor 1 gene RYR1. In genetically susceptible patients, exposure to triggers leads to exaggerated / continuous release of calcium by the sarcoplasmic reticulum, with rapid onset of tachycardia, hypercarbia, hyperthermia, muscular rigidity, rhabdomyolysis, lactic acidosis, and multisystemic involvement, with 80% mortality without adequate treatment. The at-risk population comprises a broad spectrum ranging from survivors of MH crisis, their relatives, and patients with some neuromuscular diseases and congenital osteoarticular disorders. The standard method for diagnosing MH susceptibility is the in vitro muscle contracture test (IVCT) in response to halothane and caffeine. Our objectives are 1.To characterize the clinical-radiological-anatomopathological-metabolic-genetics expression of MH in a Brazilian sample, through multidisciplinary approach that includes research on susceptibility with IVCT, osteoarticular/muscle imaging, cardiopulmonary exercise test with cardiac output by transthoracic impedance associated with near-infrared spectroscopy and body composition measurement, muscle pathology, muscle biochemical study, intracellular calcium dynamics, and molecular study for the search of genetic variants. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
RODRIGUES, GISLENE; DE ANDRADE, PAMELA VIEIRA; DOS SANTOS, JOILSON MOURA; GOMES DO AMARAL, JOSE LUIZ; ALMEIDA DA SILVA, HELGA CRISTINA. Impact of a digital manual for guidance on malignant hyperthermia: patient education. ORPHANET JOURNAL OF RARE DISEASES, v. 17, n. 1, p. 9-pg., . (21/06180-7)

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