Investigation and management of sudden unexpected death in the young in Canada

Sudden unexpected death in the young, SUDY, is devastating for families, their communities and health care professionals. When no cause of death is identified after a thorough autopsy and other ancillary tests, “autopsy-negative” SUDY, it leaves families without answers as to why their loved one died. At least one third of autopsy-negative SUDY cases are attributed to an inherited cardiac disorder. Therefore, surviving relatives may be at risk of another tragic death if they are not referred for expert clinical assessment. The main focus of this dissertation was to explore the investigation and management of SUDY and SUDY-affected families in Canada with the end goal of developing guidelines for coroners and medical examiners to standardize their investigative practices. To achieve this goal, three studies were conducted. The first study determined the current practices of SUDY investigation by coroners and medical examiners by surveying Canadian death investigation agencies and cardiac electrophysiologists – clinicians with expertise in inherited cardiac disorders that can predispose individuals to SUDY. The findings revealed heterogeneous practices, particularly around post mortem tissue retention at autopsy and molecular genetic testing, supporting the need for SUDY investigation protocols, tissue retention, cause/manner of death classification and written recommendations for SUDY-affected relatives to undergo clinical assessment. The second study involved genetic testing of post mortem tissue retained from autopsy from a child SUD cohort in collaboration with the Manitoba Medical Examiner’s Office. We successfully identified variants that may assist in the diagnosis of 15% of autopsy-negative child SUD cases. We reported our findings to the medical examiner who informed the families of our cohort and recommended that they be clinically assessed to reduce the risk of future SUDY. In the final study, the findings from the first two studies, both limitations and successes, were combined with a systematic scoping review of published and grey literature on SUDY investigation guidelines. Seven recommendations were developed for Canadian death investigation agencies to standardize their approaches to SUDY investigation.