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

Sheila Riazi; Natalia Kraeva; Philip M Hopkins

doi:10.1097/ALN.0000000000001878

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

Anesthesiology. 2018 Jan;128(1):168-180. doi: 10.1097/ALN.0000000000001878.

Authors

Sheila Riazi¹, Natalia Kraeva, Philip M Hopkins

Affiliation

¹ 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.).

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.

Publication types

Review
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural

MeSH terms

Anesthesia, General / adverse effects*
Genomics*
Humans
Malignant Hyperthermia / diagnosis*
Malignant Hyperthermia / genetics*
Malignant Hyperthermia / prevention & control
Rhabdomyolysis / diagnosis
Rhabdomyolysis / genetics
Rhabdomyolysis / prevention & control
Ryanodine Receptor Calcium Release Channel / genetics*

Substances

Ryanodine Receptor Calcium Release Channel

Abstract

Publication types

MeSH terms

Substances

Grants and funding