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

作者信息

Riazi Sheila, Kraeva Natalia, Hopkins Philip M

机构信息

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.).

出版信息

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

DOI:10.1097/ALN.0000000000001878
PMID:28902675
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5726912/
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.

摘要

相似文献

[1]
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Anesthesiology. 2018-1

[2]
Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.

Can J Anaesth. 2014-11

[3]
Exertional rhabdomyolysis and malignant hyperthermia in a patient with ryanodine receptor type 1 gene, L-type calcium channel alpha-1 subunit gene, and calsequestrin-1 gene polymorphisms.

Anesthesiology. 2010-1

[4]
RYR1-Related Rhabdomyolysis: A Spectrum of Hypermetabolic States Due to Ryanodine Receptor Dysfunction.

Curr Pharm Des. 2022

[5]
The genetics of malignant hyperthermia.

Anesthesiol Clin North Am. 2005-12

[6]
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing.

Anesthesiology. 2022-6-1

[7]
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

Neuromuscul Disord. 2013-4-28

[8]
Delayed postoperative rhabdomyolysis in a patient subsequently diagnosed as malignant hyperthermia susceptible.

Anesthesiology. 2002-3

[9]
The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol.

Medicine (Baltimore). 2021-8-20

[10]
Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

Br J Anaesth. 2002-4

引用本文的文献

[1]
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.

Genes (Basel). 2025-8-11

[2]
Anabolic androgenic steroids and illicit drugs as potential modulating factors in malignant hyperthermia: a case series.

Anaesthesiol Intensive Ther. 2025-7-23

[3]
Research hotspots and trends in malignant hyperthermia due to anesthesia from a global perspective: a bibliometric analysis from 1975 to 2024.

Orphanet J Rare Dis. 2025-7-1

[4]
Malignant hyperthermia crisis during scoliosis surgery in a pediatric cerebral palsy patient: a case of early recognition and successful intervention.

Front Pediatr. 2025-6-16

[5]
Management of Suspected Malignant Hyperthermia With Dantrolene: Clinical Insights From 2 Case Reports in a Single-Center Experience.

Clin Med Insights Case Rep. 2025-6-14

[6]
Diagnosis and rescue of malignant hyperthermia induced by anesthesia during radical surgery in a cervical cancer patient using the National Remote Emergency System: A case report.

Medicine (Baltimore). 2024-4-19

[7]
Rycal S48168 (ARM210) for -related myopathies: a phase one, open-label, dose-escalation trial.

EClinicalMedicine. 2024-1-25

[8]
A Single-Center Retrospective Review of Patients with Suspected Malignant Hyperthermia Susceptibility.

Cureus. 2023-9-4

[9]
A WeChat applet-based national remote emergency system for malignant hyperthermia in China: a usability study.

BMC Med Inform Decis Mak. 2023-9-5

[10]
Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy.

Sci Rep. 2023-9-5

本文引用的文献

[1]
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.

Can J Anaesth. 2017-7

[2]
Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

BMJ Open Sport Exerc Med. 2016-9-7

[3]
Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: continuing the search for genes associated with malignant hyperthermia.

Anaesth Intensive Care. 2016-11

[4]
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

J Hum Genet. 2017-2

[5]
A guide to the 3D structure of the ryanodine receptor type 1 by cryoEM.

Protein Sci. 2017-1

[6]
RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.

Rev Neurol (Paris). 2016-10

[7]
Structural insights into Ca(2+)-activated long-range allosteric channel gating of RyR1.

Cell Res. 2016-9

[8]
Current and future therapeutic approaches to the congenital myopathies.

Semin Cell Dev Biol. 2016-8-8

[9]
Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.

BMC Med Genomics. 2016-8-11

[10]
Ca handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Semin Cell Dev Biol. 2016-7-15

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