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A review of sudden unexpected death in the young in British Columbia
Z Lim1, K Gibbs, J Edward Potts
1British Columbia Children's Hospital, Department of Pediatrics, The University of British Columbia, Vancouver, Canada.
Insights
Sudden unexpected death (SUD) in young individuals often remains unexplained, hindering timely diagnosis for relatives. A standardized protocol is crucial for optimizing genetic testing and referrals for surviving family members.
Area of Science:
- Forensic Pathology
- Medical Genetics
- Cardiology
Background:
- Pediatric deaths in British Columbia are reported to the coroner since 2008.
- 10-30% of pediatric sudden unexpected deaths (SUD) have undetermined causes.
- Genetic testing for primary electrical diseases is now available for undetermined SUD cases.
Purpose of the Study:
- Review current practices for assessing SUD in British Columbia.
- Determine the prevalence of SUD and sudden cardiac death (2005-2007).
- Evaluate postmortem investigations and genetic testing use in SUD cases.
Main Methods:
- Compiled cases (0-35 years) from the British Columbia Coroners Service database.
- Classified deaths as sudden death or SUD.
- Analyzed autopsy-negative SUD cases for investigations and referrals.
Main Results:
- SUD prevalence was 9.21/100,000; sudden cardiac death was 5.26/100,000 (ages 0-35).
- 35 autopsy-negative SUD cases were identified.
- Relatives were suggested medical attention in 26% of autopsy-negative SUDs; molecular autopsy was discussed in 9% but never performed.
Conclusions:
- Current SUD management in British Columbia delays diagnosis for surviving relatives.
- A standardized protocol is needed for SUD cases.
- Optimized diagnosis, genetic testing, and referral of relatives are essential.
Background:
Since 2008, all pediatric deaths in British Columbia have been reported to the coroner. The cause of death in pediatric sudden unexpected death (SUD) remains undetermined in 10% to 30% of cases. Before 2008, there was no standardized approach for referring relatives of SUD victims for follow-up medical testing to determine whether they were affected by the same condition. In the current era, genetic testing for primary electrical diseases can be used in cases of undetermined SUD when existing diagnostic methods fail.
Objective:
To improve the clinical care of surviving relatives of SUD victims, the current practice of assessment of SUD in British Columbia was reviewed. The study also aimed to determine the prevalence of SUD and sudden cardiac death, types of postmortem investigations performed in SUD, and the use of genetic testing for primary electrical diseases in SUD from 2005 to 2007.
Methods:
Cases involving individuals zero to 35 years of age, with a death due to natural disease or an undetermined cause were compiled from the British Columbia Coroners Service database. Cases were determined to be either sudden death due to a previously diagnosed condition or SUD.
Results:
In individuals zero to 35 years of age, the prevalence of SUD was 9.21 per 100,000 and the prevalence of sudden cardiac death was 5.26 per 100,000. There were 35 cases of SUD in which a cause of death was unidentified after autopsy (autopsy- negative SUD). Specimens were collected, and specialists were consulted in 86% of these cases in the pediatric population and 14% in the adult population. A suggestion was made to relatives to seek medical attention in 26% of the autopsy-negative SUDs, and molecular autopsy was discussed in 9% of cases but performed in none.
Conclusion:
Currently, SUD in British Columbia is not managed in a way that optimizes a timely diagnosis for surviving relatives. A standardized protocol for SUD is needed to ensure optimization of diagnosis, genetic testing and referral of surviving relatives.
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