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Malignant hyperthermia
1Department of Anesthesia, Indiana University School of Medicine, JW Riley Hospital for Children, Indianapolis 46202-5200.
Seminars in Pediatric Surgery
|February 1, 1992
Summary
Malignant hyperthermia, a rare genetic disorder triggered by anesthetics, is linked to a defective calcium release channel in skeletal muscle. Research points to human chromosome 19 as the location of this abnormality, with dantrolene improving survival rates.
Area of Science:
- Anesthesiology
- Genetics
- Molecular Biology
Background:
- Malignant hyperthermia is a rare, life-threatening pharmacogenetic disorder.
- It is triggered by volatile anesthetics and succinylcholine in susceptible individuals.
- Abnormalities in the skeletal muscle sarcoplasmic reticulum calcium release channel are implicated.
Purpose of the Study:
- To investigate the genetic basis of malignant hyperthermia.
- To identify the chromosomal location of the genetic defect.
- To discuss the impact of dantrolene and future diagnostic approaches.
Main Methods:
- Genetic linkage studies were performed.
- Analysis focused on identifying chromosomal abnormalities.
- Review of recent literature on etiology and treatment.
Main Results:
- Genetic studies have localized the primary defect to human chromosome 19.
- The sarcoplasmic reticulum calcium release channel is the likely site of the abnormality.
- Dantrolene has significantly reduced mortality.
Conclusions:
- Malignant hyperthermia is associated with a specific genetic defect on chromosome 19.
- Understanding the genetic etiology is crucial for diagnosis and management.
- Advancements in diagnosis are anticipated with ongoing research.