Sheila Riazi

Research Synopsis

Malignant hyperthermia (MH) is the only known anesthetic-induced disease. Until recently, MH was considered a pharmacogenetic susceptibility that is subclinical in the absence of anesthetic agents. However, this view has been challenged due to the high incidence of exercise/heat induced rhabdomyolysis, premature ageing and statin-induced myopathy in MH positive patients. The new assessment of MH has brought more attention to investigations of the pathophysiology of MH and its diverse phenotypes. Our group’s research in MH is multifaceted, and focused on different aspects of MH, clinical as well as fundamental, involving genetics and cellular studies. We have one the largest, complete database of patients diagnosed with MH that helps us investigate this disease. We have performed various genetic testing, including exome sequencing on MH patients. We have also focused on details of MH pathophysiology from metabolic changes to calcium movement in these patients. The phenotypic variability among MH patients is believed to cause confusion with diagnosis and treatment, hence the reason for high morbidity, and mortality in this population. Our emphasis on pathophysiological details of MH can shed light to many questions on phenotypic variability in this group of patients.