Korean J Anesthesiol.  2009 Sep;57(3):387-391. 10.4097/kjae.2009.57.3.387.

Anesthetic experience for patients with malignant hyperthermia susceptibility determined by molecular genetic test: A report of 2 cases

• Lee JW
• Yi JS
• Lee JR
• Kim DC

• KMID: 2236514
• DOI: http://doi.org/10.4097/kjae.2009.57.3.387

Abstract

Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disorder manifested as a life threatening hypermetabolic crisis in susceptible individuals following exposure to inhalation anesthetics and to depolarizing muscle relaxants. The preoperative diagnosis of MH susceptibility is difficult. The gold standard for determination of MH susceptibility is the in vitro contracture test. However, it is invasive, requiring skeletal muscle biopsy and is not widely available. Recent advances in genetic testing for mutations that result in MH during anesthesia have helped some genetic test have limitations in clinical application due to the diversity of mutations. In Korea, we found the RYR1 genetic mutation by molecular genetic testing for MH susceptibility in a family for which MH had occurred. Based on the results of genetic testing, we could known MH susceptibility of 2 patients. We believe that the genetic testing for MH can be developed and used with some limitations in clinical settings in Korea.

Keyword

Genetic test; Malignant hyperthermia; Ryanodine receptor; Susceptibility

MeSH Terms

Anesthesia
Anesthetics, Inhalation
Biopsy
Contracture
Genetic Testing
Humans
Korea
Malignant Hyperthermia
Molecular Biology
Muscle, Skeletal
Neuromuscular Depolarizing Agents
Ryanodine Receptor Calcium Release Channel
Anesthetics, Inhalation
Neuromuscular Depolarizing Agents
Ryanodine Receptor Calcium Release Channel