British Columbia Children's Hospital, Department of Pediatrics, The University of British Columbia, Vancouver, Canada.
Can J Cardiol. 2010 Jan;26(1):22-6. doi: 10.1016/s0828-282x(10)70329-9.
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.
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.
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.
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.
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.
自 2008 年以来，不列颠哥伦比亚省所有儿科死亡病例都已向验尸官报告。在儿科猝死（SUD）病例中，10%至 30%的病例死因仍未确定。在 2008 年之前，对于 SUD 受害者的亲属，没有标准化的方法来进行后续医疗检测以确定他们是否受到相同疾病的影响。在当前时代，当现有诊断方法失败时，可以使用原发性电疾病的基因检测来检测未确诊的 SUD 病例。
为了改善 SUD 幸存亲属的临床护理，对不列颠哥伦比亚省当前的 SUD 评估实践进行了回顾。该研究还旨在确定 2005 年至 2007 年 SUD 和心脏性猝死的发生率、SUD 中进行的死后调查类型以及原发性电疾病的基因检测在 SUD 中的应用。
从不列颠哥伦比亚省验尸官服务数据库中编制了涉及 0 至 35 岁个体、因自然疾病或不明原因死亡的病例。病例被确定为先前诊断的疾病引起的突然死亡或 SUD。
在 0 至 35 岁的个体中，SUD 的发病率为 9.21/100,000，心脏性猝死的发病率为 5.26/100,000。有 35 例 SUD 病例在尸检后死因仍未确定（尸检阴性 SUD）。在儿科人群中，86%的病例采集了标本并咨询了专家，在成人人群中这一比例为 14%。在 26%的尸检阴性 SUD 病例中，建议亲属寻求医疗关注，在 9%的病例中讨论了分子尸检，但均未进行。
目前，不列颠哥伦比亚省的 SUD 管理方式未能及时为幸存亲属做出诊断。需要制定标准化的 SUD 协议，以确保优化诊断、基因检测和幸存亲属的转介。
