成人猝死的尸检诊断有进展吗?

Is there progress in the autopsy diagnosis of sudden unexpected death in adults?

作者信息

de la Grandmaison Geoffroy Lorin

机构信息

Department of Forensic Medicine and Pathology, Assistance Publique-Hôpitaux de Paris, Hôpital Raymond Poincaré, Faculté de Médecine Paris-Ile de France Ouest, 104 Boulevard Raymond Poincaré, F-92380 Garches, France.

出版信息

Forensic Sci Int. 2006 Jan 27;156(2-3):138-44. doi: 10.1016/j.forsciint.2004.12.024.

Abstract

Sudden death is now currently described as natural unexpected death occurring within 1h of new symptoms. Most studies on the subject focused on cardiac causes of death because most of the cases are related to cardiovascular disease, especially coronary artery disease. The incidence of sudden death varies largely as a function of coronary heart disease prevalence and is underestimated. Although cardiac causes are the leading cause of sudden death, the exact incidence of the other causes is not well established because in some countries, many sudden deaths are not autopsied. Many risk factors of sudden cardiac death are identified: age, gender, heredity factors such as malignant mutations, left ventricular hypertrophy and left ventricle function impairment. The role of the police surgeon in the investigation of sudden death is very important. This investigation requires the interrogation of witnesses and of the family members of the deceased. The interrogation of physicians of the rescue team who attempted resuscitation is also useful. Recent symptoms before death and past medical history must be searched. Other sudden deaths in the family must be noted. The distinction between sudden death at rest and during effort is very important because some lethal arrhythmia are triggered by catecholamines during stressful activity. The type of drugs taken by the deceased may indicate a particular disease linked with sudden death. Sudden death in the young always requires systematic forensic autopsy performed by at least one forensic pathologist. According to recent autopsy studies, coronary artery disease is still the major cause of death in people aged more than 35 years. Cardiomyopathies are more frequently encountered in people aged less than 35 years. The most frequent cardiomyopathy revealed by sudden death is now arrhythmogenic right ventricular cardiomyopathy also known simply as right ventricular cardiomyopathy (RVC). The postmortem diagnosis of cardiomyopathies is very important because the family of the deceased will need counseling and the first-degree relatives may undergo a possible screening to prevent other sudden deaths. In each case of sudden death, one important duty of the forensic pathologist is to inform the family of all autopsy results within 1 month after the autopsy. Most of the recent progress in autopsy diagnosis of sudden unexpected death in the adults comes from molecular biology, especially in case of sudden death without significant morphological anomalies. Searching mutations linked with functional cardiac pathology such as long-QT syndrome, Brugada syndrome or idiopathic ventricular fibrillation is now the best way in order to explain such sudden death. Moreover, new syndromes have been described by cardiologists, such as short-QT syndrome and revealed in some cases by a sudden death. Molecular biology is now needed when limits of morphological diagnosis have been reached.

摘要

猝死目前被定义为在出现新症状后1小时内发生的自然意外死亡。关于该主题的大多数研究都集中在心脏性死亡原因上,因为大多数病例都与心血管疾病有关,尤其是冠状动脉疾病。猝死的发生率因冠心病患病率的不同而有很大差异,且被低估了。虽然心脏性原因是猝死的主要原因,但其他原因的确切发生率尚未明确,因为在一些国家,许多猝死病例未进行尸检。已确定许多心脏性猝死的危险因素:年龄、性别、遗传因素如恶性突变、左心室肥厚和左心室功能损害。法医在猝死调查中的作用非常重要。这项调查需要询问证人及死者家属。询问参与抢救的医疗队医生也很有用。必须查明死前的近期症状和既往病史。还必须记录家族中其他猝死情况。区分静息时猝死和运动时猝死非常重要,因为一些致命性心律失常是在应激活动期间由儿茶酚胺触发的。死者所服用的药物类型可能提示与猝死相关的特定疾病。年轻人猝死总是需要至少一名法医病理学家进行系统的法医尸检。根据最近的尸检研究,冠状动脉疾病仍然是35岁以上人群死亡的主要原因。心肌病在35岁以下人群中更常见。因猝死而发现的最常见心肌病是致心律失常性右心室心肌病,也简称为右心室心肌病(RVC)。心肌病的尸检诊断非常重要,因为死者家属需要咨询,一级亲属可能需要接受筛查以预防其他猝死。在每例猝死案件中,法医病理学家一项重要的职责是在尸检后1个月内将所有尸检结果告知家属。成人意外猝死尸检诊断的最新进展大多来自分子生物学,尤其是在没有明显形态学异常的猝死病例中。寻找与功能性心脏病理相关的突变,如长QT综合征、Brugada综合征或特发性心室颤动,现在是解释此类猝死的最佳方法。此外,心脏病学家还描述了一些新的综合征,如短QT综合征,在某些情况下表现为猝死。当形态学诊断达到极限时,现在就需要分子生物学。

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