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British Journal of Anaesthesia, 2002, Vol. 88, No. 4 508-515
© 2002 The Board of Management and Trustees of the British Journal of Anaesthesia

Clinical Investigations

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees

M. Davis1, R. Brown3,7, A. Dickson4, H. Horton4, D. James3,8, N. Laing1,5, R. Marston3, M. Norgate3,9, D. Perlman2, N. Pollock6 and K. Stowell*,3

Departments of 1Neuropathology and 2Anaesthesia, Royal Perth Hospital, Perth, Western Australia. 3Institute of Molecular BioSciences, Massey University, Palmerston North, New Zealand. 4Anaesthetic Department, Christchurch Hospital, Private Bag 4710, Christchurch, New Zealand. 5Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Perth, Australia. 6Department of Anaesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand 7Present address: Department of Medical Genetics, Wellcome Trust/MRC Building, Addenbrookes Hospital, Cambridge CB2 2XY, UK 8Present address: Central Region Genetic Service, Wellington Hospital, Wellington South, New Zealand 9Present address: Department of Genetics, The University of Melbourne, Victoria, 3010, Australia*Corresponding author

Malignant hyperthermia (MH) is rarely associated with specific myopathies or musculoskeletal abnormalities. Three clinical investigations of MH associated with either non-specific myopathies or congenital disorders in three separate families are presented. Two of these cases also show evidence of exercise-induced rhabdomyolysis. In each case MH susceptibility was confirmed by in vitro contracture testing of quadriceps muscle. DNA sequence analysis of each kindred revealed the presence of a common novel mutation that results in an arginine401–cysteine substitution in the skeletal muscle ryanodine receptor gene (RYR1). Haplotype analysis using chromosome 19q markers indicated that the three families are likely to be unrelated, providing confirmation that the MH/central core disease region 1 of RYR1 is a mutation hot spot.

Br J Anaesth 2002; 88: 508–15


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