MH Continues to Maintain High Mortality Rate

Background: Malignant hyperthermia (MH) is a rare, life-threatening disorder of skeletal muscle commonly presenting in a younger males. MH an autosomal dominant inheritance pattern; genetic mutations have variable phenotypic expression leading to a low incidence of events in genotypically susceptible individuals. Most affected individuals are found to have a mutation in the RyR1 gene; several genetic mutations involved in the regulation and release of calcium have been identified. In response to certain agents, succinylcholine, desflurane, isoflurane, and sevoflurane, these mutations facilitate influx of calcium into the skeletal muscle. The dysregulation of calcium ions leads to prolonged muscle contractility, rapid ATP depletion, increase in carbon dioxide, and lactate production. This manifests as hyperthermia, electrolyte imbalance, and metabolic acidosis. When first recognized in the 1960s, MH carried a mortality rate of 80%. Despite advances in susceptibility testing, early cli more...