Malignant Hyperthermia in Children, Contemporary Diagnostic Possibilities in the CzechRepublic

Overview

Malignant hyperthermia (MH) is a serious complication of general anaesthesia, the risk of its developmentcannot be completely eliminated in common anaesthesiological practice. The incidence is higher in children thanin adults - 1:10 000 anaesthesias. It is an uncontrolled hypermetabolic reaction caused by the presence of triggers(most frequently volatile anaesthetics and the depolarizing relaxant suxamethonium). Basically an autosomaldominant (AD) disorder of the calcium metabolism of the muscle cell is involved in the regulation of which themain part is played by the ryanodine receptor RYR1 of the sarcoplasmic reticulum (SR). The diagnosis of MHdisposition in man is based on a positive result of themuscular contraction test in vitro (IVCT) or evidence of someof the 25 so far known mutations in the RYR1 gene. Susceptible subjects can be easily detected by through andaimed preoperative examination as well as within the framework of the usual routine. In risk subjects anaesthesiamust be implemented without triggers (or after special preparation), ensured by adequate monitoring andperioperative intensive care, subsequently by definite confirmation or ruling out ofMHsensitivity. Comprehensivediagnosis is from this year available also in the Czech republic.The purpose of the present paper is to make paediatricians familiar with the problem of malignant hyperthermiaas data in postgraduate literature are very scarce and new findings are rapidly accumulating: to inform onthe existence of a „Database of families with the risk ofMH“, the foundation and activities of the National Centrefor the Diagnosis of Malignant Hyperthermia in Brno.

Key words:
malignant hyperthermia, preoperative examination, risk factors, database of families at risk ofMH, availability of diagnosis in CR