A Fulminant Malignant Hyperthermia Episode in a Patient with Ryanodine Receptor Gene Mutation p.Tyr522Ser

In Brief A 37-yr-old patient scheduled for elective bursectomy developed fulminant malignant hyperthermia (MH) under sevoflurane anesthesia. The first sign was a dramatic increase in end-tidal CO2. Symptomatic and specific therapy was rapidly instituted. Postoperative rhabdomyolysis was treated with veno-venous hemofiltration. The patient rejected open muscle biopsy for in vitro contracture testing. Therefore, molecular testing was performed. An infrequent MH causative mutation was identified on the ryanodine receptor gene. This case report confirms the causative nature of this mutation. It also shows that molecular genetic investigation may be as appropriate as in vitro contracture testing to confirm the diagnosis after a clinical episode of MH. IMPLICATIONS: This report describes a case of fulminant malignant hyperthermia and its clinical management. In convincing episodes of malignant hyperthermia, molecular genetic testing is appropriate as the first in-vitro laboratory diagnostic test.