心脏性猝死法医调查的现状。
State of the art in forensic investigation of sudden cardiac death.
作者信息
Oliva Antonio, Brugada Ramon, D'Aloja Ernesto, Boschi Ilaria, Partemi Sara, Brugada Josep, Pascali Vincenzo L
机构信息
Institute of Forensic Medicine and Laboratory of Forensic Genetics, Catholic University, School of Medicine, Rome, Italy.
出版信息
Am J Forensic Med Pathol. 2011 Mar;32(1):1-16. doi: 10.1097/PAF.0b013e3181c2dc96.
The sudden death of a young person is a devastating event for both the family and community. Over the last decade, significant advances have been made in understanding both the clinical and genetic basis of sudden cardiac death. Many of the causes of sudden death are due to genetic heart disorders, which can lead to both structural (eg, hypertrophic cardiomyopathy) and arrhythmogenic abnormalities (eg, familial long QT syndrome, Brugada syndrome). Most commonly, sudden cardiac death can be the first presentation of an underlying heart problem, leaving the family at a loss as to why an otherwise healthy young person has died. Not only is this a tragic event for those involved, but it also presents a great challenge to the forensic pathologist involved in the management of the surviving family members. Evaluation of families requires a multidisciplinary approach, which should include cardiologists, a clinical geneticist, a genetic counselor, and the forensic pathologist directly involved in the sudden death case. This multifaceted cardiac genetic service is crucial in the evaluation and management of the clinical, genetic, psychological, and social complexities observed in families in which there has been a young sudden cardiac death. The present study will address the spectrum of structural substrates of cardiac sudden death with particular emphasis given to the possible role of forensic molecular biology techniques in identifying subtle or even merely functional disorders accounting for electrical instability.
年轻人的突然死亡对其家庭和社区来说都是毁灭性的事件。在过去十年中,人们在了解心源性猝死的临床和遗传基础方面取得了重大进展。许多猝死原因都归因于遗传性心脏疾病,这些疾病可导致结构异常(如肥厚型心肌病)和致心律失常异常(如家族性长QT综合征、Brugada综合征)。最常见的情况是,心源性猝死可能是潜在心脏问题的首次表现,这让家人对原本健康的年轻人为何死亡感到茫然。这不仅对相关人员来说是一场悲剧,也给负责处理幸存家庭成员问题的法医病理学家带来了巨大挑战。对家庭进行评估需要多学科方法,其中应包括心脏病专家、临床遗传学家、遗传咨询师以及直接参与猝死案件的法医病理学家。这种多方面的心脏遗传服务对于评估和处理在年轻人心源性猝死家庭中观察到的临床、遗传、心理和社会复杂性至关重要。本研究将探讨心源性猝死的结构底物谱,特别强调法医分子生物学技术在识别导致电不稳定的细微甚至仅仅是功能性障碍方面可能发挥的作用。