Malignant Hyperthermia - Diagnosis in Practice

Abstract

Testing for malignant hyperthermia (MH) susceptibility is usually performed either in relatives of MH susceptible persons or in patients with an MH suspicious clinical event. There are two diagnostic options: muscle biopsy with in-vitro contracture testing and molecular genetic diagnosis. Patients with familial MH mutations are usually tested genetically. A genetic screening can be performed in clinical events with a high pretest probability. MH susceptibility can be confirmed by presence of a diagnostic MH mutation. Absence of MH mutations cannot exclude MH. The only option to exclude MH susceptibility is contracture testing.