naa a22 4500 51074382X CHVBK 20180411083038.0 cr unu---uuuuu 180411e20131001xx s 000 0 eng 10.1007/s12630-013-0005-9 doi (NATIONALLICENCE)springer-10.1007/s12630-013-0005-9 Analysis of histomorphology in malignant hyperthermia-susceptible patients [Elektronische Daten] [David Orlov, Julia Keith, Derek Rosen, Sidney Croul, Natalia Kraeva, Sheila Riazi] Analyse de l'histomorphologie chez les patients susceptibles à l'hyperthermie maligne Background: Malignant hyperthermia (MH) is a potentially lethal disorder of skeletal muscle triggered by anesthetic agents. A histomorphological examination of diseased muscle may provide insight into MH pathophysiology, but it is not a routine part of standard-of-care practice for the identification of MH-susceptibility. In this study, we investigated muscle histomorphology in a large cohort of MH-susceptible (MHS) patients and examined its relationship to genotype and phenotype. Methods: All consenting patients who were identified as MHS based on a caffeine-halothane contracture test (CHCT) performed during 1992-2011 were retrospectively identified and recruited for this study. Results of the histomorphological examination, which is a routine part of our centre-specific practice, were reviewed. Patient demographics, MH proband status, histological features, CHCTs, and genetic results for MH-causative mutations were summarized. Results: Seven of the 399 patients classified as MHS had histological characteristics consistent with central core disease, and one patient was a carrier of Duchenne's muscular dystrophy. Eighty-six (22%) patients had histological abnormalities, and five (6%) of these had evidence of "frank” myopathy. No histologic abnormalities were consistent among the MHS patients; however, a higher proportion of MH probands had abnormal histomorphology compared with the general MHS population, and patients with evidence of "frank” myopathy showed similarities in clinical history, biochemistry, CHCT, and genetic testing. Conclusion: Despite the inability of the histomorphological examination to identify consistent features in MHS patients, histology may serve as a potential adjunct to CHCT and aid in the identification of other myopathies. Nevertheless, the specifics of its utility ought to be assessed in other studies and by way of formal cost-effectiveness analysis. Canadian Anesthesiologists' Society, 2013 Orlov David Department of Anesthesia and Pain Management, Toronto General Hospital, Toronto, ON, Canada aut Keith Julia Department of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada aut Rosen Derek Department of Anesthesia and Pain Management, Toronto General Hospital, Toronto, ON, Canada aut Croul Sidney Department of Anatomical Pathology, University Health Network, University of Toronto, Toronto, ON, Canada aut Kraeva Natalia Malignant Hyperthermia Investigation Unit, Department of Anesthesia and Pain Management, Toronto General Hospital, University Health Network, 200 Elizabeth Street, Room E3-323, M5G 2C4, Toronto, ON, Canada aut Riazi Sheila Department of Anesthesia and Pain Management, Toronto General Hospital, Toronto, ON, Canada aut Canadian Journal of Anesthesia/Journal canadien d'anesthésie Springer US; http://www.springer-ny.com 60/10(2013-10-01), 982-989 0832-610X 60:10<982 2013 60 12630 https://doi.org/10.1007/s12630-013-0005-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s12630-013-0005-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Orlov David Department of Anesthesia and Pain Management, Toronto General Hospital, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Keith Julia Department of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Rosen Derek Department of Anesthesia and Pain Management, Toronto General Hospital, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Croul Sidney Department of Anatomical Pathology, University Health Network, University of Toronto, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Kraeva Natalia Malignant Hyperthermia Investigation Unit, Department of Anesthesia and Pain Management, Toronto General Hospital, University Health Network, 200 Elizabeth Street, Room E3-323, M5G 2C4, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Riazi Sheila Department of Anesthesia and Pain Management, Toronto General Hospital, Toronto, ON, Canada aut NATIONALLICENCE 773 0- Canadian Journal of Anesthesia/Journal canadien d'anesthésie Springer US; http://www.springer-ny.com 60/10(2013-10-01), 982-989 0832-610X 60:10<982 2013 60 12630 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer