Fatal postoperative malignant hyperthermia following rhinoplasty in a patient with one variant of the ryanodine receptor 1 (RYR1) gene. (November 2021)

• Record Type: Journal Article
• Authors: Wang, Jia-Wen; Qu, Dong; Li, Man; Xia, Bing; Wan, Chang-Wu; Wang, Jie; Wang, Yuan-He
• Is Part Of: Legal medicine. Volume 53(2021)
• Publication Date: 2021-11
• Subjects: Malignant hyperthermia -- RYR1 -- Missense variant -- Forensic medicine -- Genetic analysis; Medical jurisprudence -- Periodicals; Forensic Medicine -- Periodicals; Médecine légale -- Périodiques; Medical jurisprudence; Periodicals; 614.1
• DOI: 10.1016/j.legalmed.2021.101938
• Languages: English
• ISSNs: 1344-6223

Abstract

Highlights: A fatal case of postoperative malignant hyperthermia (MH) is reported. An MH diagnostic variant RYR1 c.7048G > A (p. A2350T) was detected. Genetic analysis assisted in postmortem diagnosis of MH. 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.