Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Sheila Riazi, Natalia Kraeva, Philip M Hopkins

Journal: Anesthesiology 2017;128(1):168-180

PMID: 28902675

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Abstract

This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and phenotypes, such as myopathies, exertional rhabdomyolysis, and bleeding disorders, and examines the connection between these disorders and malignant hyperthermia.

Address: From the Department of Anesthesia, University of Toronto, Toronto, Ontario, Canada (S.R., N.K.); and the Department of Anaesthesia, University of Leeds, Leeds, United Kingdom (P.M.H.).

DOI: 10.1097/ALN.0000000000001878

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MeSH Terms: Anesthesia, General, Genomics, Humans, Malignant Hyperthermia, Rhabdomyolysis, Ryanodine Receptor Calcium Release Channel