This Article  • Full text  • PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (22)  • Contact me when this article is cited  Related Content  • Related article  • Similar articles in JAMA  Topic Collections  • Anesthesia  • Drug Therapy  • Adverse Effects  • Alert me on articles by topic  Social Bookmarking   What's this?

Update on Susceptibility Testing

Ronald S. Litman, DO; Henry Rosenberg, MD, CPE

JAMA. 2005;293:2918-2924.

Malignant hyperthermia (MH) is a pharmacogenetic clinical syndrome that manifests as a hypermetabolic crisis when a susceptible individual is exposed to an anesthetic triggering agent. Clinical signs include unexplained elevation of end-tidal carbon dioxide, muscle rigidity, acidosis, tachycardia, tachypnea, hyperthermia, and evidence of rhabdomyolysis. This process is a result of an abnormally increased release of calcium from the sarcoplasmic reticulum, which is often caused by an inherited mutation in the gene for the ryanodine receptor (RYR1) that resides in the membrane of the sarcoplasmic reticulum. The gold standard for determination of MH susceptibility is the caffeine-halothane contracture test. However, it is invasive, requiring skeletal muscle biopsy and is not widely available. Researchers have begun to map mutations within the ryanodine receptor gene (chromosome 19q13.1) responsible for conferring MH susceptibility. Ryanodine receptor mutations are found in at least 25% of known MH susceptible individuals in North America. Mutation analysis has recently become available in the United States and is expected to play an integral role in the diagnosis of MH susceptibility in the future.

Author Affiliations: Department of Anesthesiology & Critical Care Medicine, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia (Dr Litman); Department of Medical Education, Saint Barnabas Medical Center, Livingston, New Jersey and Mount Sinai School of Medicine, New York, NY (Dr Rosenberg).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

RELATED ARTICLE

Malignant Hyperthermia
Janet M. Torpy, Cassio Lynm, and Richard M. Glass
JAMA. 2005;293(23):2958.
EXTRACT | FULL TEXT  

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Malignant Hyperthermia and Muscular Dystrophies
Gurnaney et al.
Anesth. Analg. 2009;109:1043-1048.
ABSTRACT | FULL TEXT  

Prevalence of Malignant Hyperthermia Due to Anesthesia in New York State, 2001-2005
Brady et al.
Anesth. Analg. 2009;109:1162-1166.
ABSTRACT | FULL TEXT  

Novel Variants Near the Central Domain of RYR1 in Two Malignant Hyperthermia-Susceptible Families from Taiwan
Chen et al.
Anesth. Analg. 2009;109:1273-1277.
ABSTRACT | FULL TEXT  

Genetics and Susceptibility to Malignant Hyperthermia
Anderson-Pompa et al.
Crit Care Nurse 2008;28:32-36.
FULL TEXT  

A Fulminant Malignant Hyperthermia Episode in a Patient with Ryanodine Receptor Gene Mutation p.Tyr522Ser
Girard et al.
Anesth. Analg. 2008;107:1953-1955.
ABSTRACT | FULL TEXT  

Halothane modulation of skeletal muscle ryanodine receptors: dependence on Ca2+, Mg2+, and ATP
Diaz-Sylvester et al.
Am. J. Physiol. Cell Physiol. 2008;294:C1103-C1112.
ABSTRACT | FULL TEXT  

CM-MM and ACE genotypes and physiological prediction of the creatine kinase response to exercise
Heled et al.
J. Appl. Physiol. 2007;103:504-510.
ABSTRACT | FULL TEXT  

Not Every Hypermetabolic State Is Due to Malignant Hyperthermia!
Girard and Urwyler
Anesth. Analg. 2007;104:1611-1612.
FULL TEXT  

Malignant Hyperthermia in China
Xu et al.
Anesth. Analg. 2006;103:983-985.
ABSTRACT | FULL TEXT