Malignant hyperthermia, Perioperative management, Signs, Associated disorders, Genetics
Malignant hyperthermia (MH) is a pharmacogenetic disease of skeletal muscle that presents as a progressively worsening hypermetabolic response in susceptible individuals exposed to triggering anesthetic agents.
Genetic mutations in a few key genes lead to disordered calcium homeostasis during a triggering anesthetic, causing muscle rigidity, increased carbon dioxide production, and acidosis that, left untreated, can lead to cell lysis, hyperkalemia, arrhythmias, and death.
Early recognition and prompt treatment with the antidote drug dantrolene is vital to minimize morbidity and mortality.
Genetic testing and research have been essential in characterizing the disorder, establishing loci of pathogenic mutations, and elucidating the connection between MH and other diseases, but contracture testing remains the gold standard in establishing a patient’s MH status.
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