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MALIGNANT HYPERTHERMIA Dr. Mary Lehane Malignant Hyperthermia Investigation Unit Cork University Hospital
INCIDENCE 1: : Male = Female No racial difference
MORTALITY 5 % - 80 %
TRIGGERS All volatile anaesthetic agents Suxamethonium
GENETICS Autosomal dominant Chromosome 19 Gene RYR 1 Mutations –78 single point mutations identified to date
PRESENTATION 1A known MH patient 2Unexpected MH crisis
FULMINANT CRISIS Tachycardia Metabolic acidosis, O 2 sat, pCO 2 Muscle rigidity Electrolyte disturbance Arrhythmias Myoglobinuria Hyperthermia
DIAGNOSIS, consider MH if Masseter muscle spasm after sux Unexplained, unexpected tachycardia Unexplained, unexpected increase in end - tidal CO 2
EARLY MANAGEMENT 1 STOP ALL ANAESTHETIC VAPOURS CHANGE TO CLEAN ANAESTHETIC BREATHING SYSTEM ABANDON SURGERY IF FEASABLE
EARLY MANAGEMENT 2 DANTROLENE MEASURE ABGs, K + AND CK MEASURE CORE TEMP COOL PATIENT
OTHER COMPLICATIONS Arrhythmias Hyperkalaemia Metabolic Acidosis Disseminated Intravascular Coagulopathy Renal Failure
POST CRISIS MANAGEMENT WARN PATIENT AND FAMILY REFER FOR INVESTIGATION –ie muscle biopsy MEDIC ALERT
INVESTIGATION Family history Muscle biopsy In - vitro contracture tests Histology Resting CPK etc Mutation screening
KNOWN MH PATIENT Inform anaesthetist and theatre Prepare anaesthetic machine etc All hospitals should carry dantrolene All staff carry responsibility
The Cork Experience 560 Patients biopsied MHS131 MHE (h) 100 MHE (c) 6 MHN333
The Cork Families 98 Pedigrees identified 74 Probands 24 Deaths
CONCLUSION SURVIVAL Identification of at-risk patients Appropriate management
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Pedigrees. What is a Pedigree? A family history that shows how a trait is inherited over several generations Useful if the trait is a genetic disorder.
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Unusual Manifestations of Susceptibility to Malignant Hyperthermia K. Lebedinski, A. Triadski St. Petersburg.
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