Fatal postoperative malignant hyperthermia following rhinoplasty in a patient with one variant of the ryanodine receptor 1 (RYR1) gene

Abstract

Malignant hyperthermia (MH) is characterized by a rapid rise in body temperature after using inhalational anesthetics and depolarizing muscle relaxants. A 19-year-old female had a rapidly developing fever up to 43.0 °C, after rhinoplasty surgery. Inhalational anesthetics and depolarizing muscle relaxants were used in general anesthesia. It was suspected that the patient died of MH. The medico-legal autopsy findings showed classical MH histopathological changes in the skeletal muscles, cardiac muscles, as well as lungs. Additionally, postmortem blood biochemical results indicated rhabdomyolysis. A combination of clinical records and autopsy revealed that MH might have caused the death. A diagnostic genetic testing was performed to confirm the existence of MH, and an MH diagnostic variant RYR1 c.7048G >A (p. A2350T) was detected. Eventually, the cause of death was determined as MH based on clinical records, autopsy, and genetic analysis. This case highlights that diagnostic genetic analysis plays a vital role in postmortem diagnosis of MH in routine medico-legal contexts.

Keywords: Forensic medicine; Genetic analysis; Malignant hyperthermia; Missense variant; RYR1.