Scientific advances in the genetic understanding and diagnosis of malignant hyperthermia

Malignant hyperthermia (MH), a potentially fatal disorder triggered by certain types of general anesthesia, has received much attention in the scientific literature. From the first case report in 1960 until the present, hundreds of studies have been conducted. The diagnosis of MH has evolved from subjective assumptions by family history and clinical diagnosis to more sophisticated laboratory testing. A genetic basis for MH was recognized in the early 1990s and, since then, complex genetic pathways have been demonstrated. The purpose of this paper is to summarize the research literature on what is known scientifically about the diagnosis and genetic basis of MH.