A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser.

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 CO(2). 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.