Diagnostic of Malignant hyperthermia: a case presentation

Abstract

Background: Malignant hyperthermia is an autosomal dominant pharmacogenetic disorder that occurs in patients susceptible to anesthetic gases; estimating genetic predisposition in 1:3000 individuals generated by the variants of genes RYR1, CACNA1, STAC3, which explain the susceptibility of 77%-86% of the caucasian population; incidence is reported 1:5000-100,000 anesthesia procedures. It is induced by excessive release without adequate reuptake of cytoplasmic calcium from the sarcoplasmic reticulum, generating persistent muscle stiffness and high energy expenditure such as ATP, hypermetabolism and secondary increase in CO2, heat, rabomyolysis, hyperkalemia, myoglobinuria and increase CPK. Clinical case description: Patient 18-year-old male, underwent surgery with general anesthesia due to acute appendicitis, during the surgery presented muscle rigidity, hemodynamic instability, hyperthermia (40° C), tachycardia 120x’ and hypotension (Blood presure 50/20), without respiratory effort and loss of osteotendinous relexes. Diagnosis of malignant hyperthermia and management is started; however, the patient dies a little less than two hours after starting the syndrome. Conclusions: Malignant hyperthermia is a condition that can generate an event in response to the exposure of anesthetic agents during a surgery, and it is dificult to prevent. The handling of these cases requires speed and thorough preparation that must follow the European and American management recommendations. This is the irst case reported at national level, with a review that allows to determine that although the key drug in the national system is not available to improve the prognosis of these cases, the preventive and therapeutic protocolization, as well as the simulation training of the personnel of surgery could inluence the survival of these patients.