致死性心律失常的法医学研究进展

据文献报道,有很多心源性猝死是由于致死性心律失常所致。在法医学鉴定工作中,心律失常所引起的猝死往往很突然,尸检及镜下病理学检查又缺乏特征性的改变,使得鉴定其死亡机制成为一大难点。因此,寻找一种客观、准确的心律失常鉴定方法,对于致死性心律失常所致心源性猝死的鉴定尤为重要。本文将就上述问题,从致死性心律失常的定义、分类、产生原因、致死机制、形态学所见及死后生化检测指标等方面进行综述,以期为心源性猝死致死原因的法医病理学分析、鉴定提供帮助。     

心脏性猝死心肌组织N-Cadherin、Bax表达变化及评价

目的观察心脏性猝死者(SCD)心肌组织的神经性钙粘附蛋白(N-Cadherin)和Bax的表达变化,探讨其法医学意义。方法分别选取心脏性猝死和排除心脏疾病死因的尸检案例心肌组织标本各33例、29为SCD组和对照组。光镜下观察心肌组织病理学改变,检测N-Cadherin和Bax在心肌组织中的表达变化,并进行统计学分析。结果 N-Cadherin在SCD组心肌中表达呈弱阳性,排列紊乱,显著低于正常心肌,正常心肌组织中N-Cadherin呈强阳性表达,细胞间界限明显,排列整齐。Bax在SCD组表达呈阳性,显著高于正常心肌。结论 N-Cadherin和Bax的变化表达对心脏性猝死鉴定有意义。     

基质金属蛋白酶2在冠心病猝死心肌中的表达

目的探讨基质金属蛋白酶2（mmp2）在冠心病猝死（SCD）心肌细胞和间质中的表达与SCD的关系。方法选取本教研室2003年51例死亡鉴定病例,分为SCD组,患有冠心病但非SCD组（对照组1）,无严重冠脉粥样硬化（As）病变和其它心血管疾病组（对照组2）,无严重As病变但有其它心脏病组（对照组3）。采用免疫组化SABC法染色及图像分析技术,检测mmp2在各组心肌细胞和间质内表达的阳性率（R值）和平均灰度值（H值）,并比较各组间的差异。结果SCD组与3个对照组之间心肌细胞内romp2H值的差异均有显著性意义;SCD组与对照组2和3之间心肌间质内mmp2H值的差异有显著性意义;镜下各组心肌间质及心肌细胞内表达的阳性率差别明显。结论心肌间质及心肌细胞内mmp2同相表达增高与SCD的发生有密切关系,联合检测心肌和间质mmp2的表达对诊断SCD有重要意义。     

窦房结中央动脉狭窄与心源性猝死

近年来国内外学者相继报道由单纯窦房结中央动脉狭窄引起的猝死。本文就窦房结中央动脉的解剖、组织学特点、病变特点进行综述,探讨窦房结动脉狭窄引起猝死的机制,以期为相关法医病理学死因鉴定提供理论基础。     

Use of Cardiac Injury Markers in the Postmortem Diagnosis of Sudden Cardiac Death

In the daily practice of forensic pathology, sudden cardiac death (SCD) is a diagnostic challenge. Our aim was to determine the usefulness of blood biomarkers [creatine kinase CK‐MB, myoglobin, troponins I and T (cTn‐I and T), and lactate dehydrogenase] measured by immunoassay technique, in the postmortem diagnosis of SCD. Two groups were compared, 20 corpses with SCD and 8 controls. Statistical significance was determined by variance analysis procedures, with a post hoc Tukey multiple range test for comparison of means (p < 0.05). SCD cases showed significantly higher levels (p < 0.05) of cTn‐T and cTn‐I compared to the control group. Although only cases within the first 8 h of postmortem interval were included, and the control group consisted mainly of violent death cases, our results suggest that blood troponin levels may be useful to support a diagnosis of SCD.     

26例心脏传导系统发育异常猝死的病理学分析

目的研究心脏传导系统发育异常致猝死的病理变化。方法排除外伤、中毒及疾病所致死亡,收集26例不明原因猝死者心脏,采用作者创建的心脏传导系统取材法,常规切片、HE染色和Masson三色染色,光镜观察。结果 26例中见心传导系统有发育不全、结构异常、细胞或组织结构移位和窦房结纤维垫等病变,9例同时具有2~3种类型。16~30岁共21例,占全部样本的80.8%。结论心脏传导系统发育异常可能是不明原因青壮年猝死的重要原因之一。     

Molecular Autopsy of Desmosomal Protein Plakophilin‐2 in Sudden Unexplained Nocturnal Death Syndrome

Plakophilin‐2 (PKP2) variants could produce a phenotype of Brugada syndrome (BrS), which seems to be most likely the same allelic disorder as some sudden unexplained nocturnal death syndrome (SUNDS). All coding regions of PKP2 gene in 119 SUNDS victims were genetically screened using PCR and direct Sanger sequencing methods. Three novel mutations (p.Ala159Thr, p.Val200Val, and p.Gly265Glu), one novel rare polymorphism (p.Thr723Thr), and eight reported polymorphisms were identified. A compound mutation (p.Ala159Thr and p.Gly265Glu) and a rare polymorphism (p.Thr723Thr) were found in one SUNDS case with absence of the cardiomyopathic features. The detected compound mutation identified in this first investigation of PKP2 genetic phenotype in SUNDS is regarded as the plausible genetic cause of this SUNDS case. The rare incidence of PKP2 mutation in SUNDS (1%) supports the previous viewpoint that SUNDS is most likely an allelic disorder as BrS.     

Identification of Arrhythmogenic Right Ventricular Cardiomyopathy‐Causing Gene Mutations in Young Sudden Unexpected Death Autopsy Cases

Arrhythmogenic right ventricular cardiomyopathy (ARVC) results in an increased risk of sudden death. We sought mutations of desmoglein‐2 (DSG2), desmoplakin (DSP), and plakophilin‐2 (PKP2) in 15 cases of sudden death whose causes of death could not be determined at autopsy. In three victims, mutations were identified in DSP. Two of these mutations were novel; one had previously been reported in a patient with ARVC that had been diagnosed clinically. Histological findings were not typical of ARVC; however, it was notable that these mutations were present in three of 15 cases, a relatively high proportion. The causal relationship between the mutations and ARVC is unclear, but the mutations might have been associated with faulty desmosomal proteins resulting in fatal arrhythmia. Combining information gathered by the traditional means of gross and histological examination with postmortem genetic analysis of young victims would assist in identifying their cause of death.     

Cardiovascular Conditions and the Evaluation of the Heart in Pregnancy‐Associated Autopsies

Abstract: Pregnancy‐associated death is defined as the death of a woman from any cause during pregnancy or in the year after delivery. This review concentrates on cardiac conditions that may result in pregnancy‐associated death including, but not limited to, acute myocardial infarction, endocarditis, peripartum cardiomyopathy, and prolonged QT syndrome. Lethal vascular conditions may also occur involving arterial dissection and thromboembolism, on occasion exacerbated by hypercoagulability, and altered hormonal and physiologic states. The autopsy evaluation of these patients includes a careful assessment of the medical history particularly for prior pregnancy‐related conditions, fetal loss, and episodes of unexplained collapse. A family history of sudden death at an early age may be significant. At autopsy, evaluation for underlying syndromes such as Marfan, or evidence of intravenous narcotism should be undertaken. Autopsy examination involves careful dissection of the heart and vessels with consideration of conduction tract studies and possible genetic evaluation for prolonged QT syndrome.     

生物化学指标检测在心源性猝死法医鉴定中的应用

早期缺血性心肌病变引起的心源性猝死（sudden cardiac death,SCD）由于发病突然,常缺乏典型的形态学改变和临床表现,易被怀疑为刑事案件,查明其死亡原因对法医学实践有指导作用。本文对国内外有关无机离子、肌酸激酶、肌钙蛋白、心房利钠尿肽、脑利钠尿肽等生物化学指标检测在诊断SCD方面的研究进展加以综述,以期为SCD的法医学诊断提供参考。