MALIGNANT HYPERTHERMIA: GENETIC ASPECTS, DIAGNOSIS, AND CLINICAL MANAGEMENT

Abstract

Malignant hyperthermia (MH) is a rare genetic condition with a significant risk of mortality, triggered by exposure to halogenated volatile anesthetics and succinylcholine. It is characterized by an exaggerated metabolic response in skeletal muscle, leading to hypercapnia, metabolic acidosis, hyperthermia, muscle rigidity, and rhabdomyolysis. Its origin lies primarily in mutations in the RYR1 and CACNA1S genes, which dysregulate intracellular calcium release in the sarcoplasmic reticulum. Although clinical presentation is often sudden and severe, diagnosis can be confirmed through muscle contracture tests or genetic analyses. The treatment of choice is dantrolene, which acts by controlling excessive calcium release and halting the metabolic crisis. Early identification, combined with preventive strategies and medical education, is essential to reducing morbidity and mortality. However, limited access to diagnostic and therapeutic resources in some regions remains a challenge for the effective management of this condition.