Description: Malignant hyperthermia (MH) is a serious complication during general anesthesia, which may even be fatal. MH is a pharmacogenetic skeletal muscle disease characterized by hypercapnia, tachycardia, and hyperthermia, which occur in response to some chemical drugs, in this case, anesthetics. This syndrome is characterized by unusually elevated body temperature, muscle stiffness, very fast and irregular heartbeat, increased respiratory rate, the bluish tinge of skin and mucous membranes, unstable blood pressure, fluid build-up in the lungs, impaired blood coagulation, kidney failure, and death. Dogs with malignant hyperthermia are healthy without clinical signs unless they are exposed to drugs that cause this condition. Hypercapnia, tachycardia, and hyperthermia occur under general anesthesia. If anesthesia is not interrupted, symptoms of arrhythmia, rhabdomyolysis, renal failure, and death may occur. The trigger substances are common volatile and gaseous inhalational anesthetic agents (e.g. halothane, isoflurane and sevoflurane) and non-polarising muscle relaxants such as succinylcholine.
Inheritance: autosomal dominant
Mutation: c.1640T>C (p.Val547Ala) in exon 15 of the RYR1 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: MH can be tested in all breeds but is most present in breeds: Border Collie, English Springer Spaniel, Greyhound, Irish Wolfhound, Labrador Retriever