致心律不齐性右室心肌病的研究进展

致心律不齐性右室心肌病是以右室心肌被纤维脂肪取代为特征的一种原因不明的心肌病。通常表现为局限性右室病变。亦可弥漫性进展，侵犯左室。最终导致左心功能不全。近年来，致心律不齐性右室心肌病导致心源性猝死已越来越引起人们的注意。在法医实际工作中。相关研究报道较少。本文综述了致心律不齐性右室心肌病的发病病因、发病机理、病理变化、临床特点和鉴别诊断等方面的研究进展。     

致心律不齐性右室心肌病

心脏性猝死一直是法医病理学研究的重要课题。在青壮年的非冠心病性心脏性猝死中 ,致心律不齐性右室心肌病 (ａｒｒｈｙｔｈｍｏｇｅｎｉｃｒｉｇｈｔｖｅｎｔｒｉｃｕｌａｒｃａｒｄｉｏｍｙ ｏｐａｔｈｙ ,ＡＲＶＣ)是重要原因之一〔1〕。近年来 ,国外文献报道日益增多〔2 ,3〕,并引起了法医学界的重视。ＡＲＶＣ以往也叫右心室发育不良 (ｒｉｇｈｔｖｅｎｔｒｉｃｕ ｌａｒｄｙｓｐｌａｓｉａ ,ＲＶＤ)或右室心肌病 (ｒｉｇｈｔｖｅｎｔｒｉｃｕｌａｒｃａｒ ｄｉｏｍｙｏｐａｔｈｙ ,ＲＶＤ)。 1995年世界卫生组织 /国际心脏病学协会 (…     

致心律失常性右室心肌病的研究进展

致心律失常性右室心肌病(ARVC)是一种原发性心肌病,其特征性病理改变为心肌细胞变性退化被纤维脂肪组织所替代,最终导致心力衰竭,心律失常,猝死。ARVC是目前青年人及运动员猝死的主要死因之一,其发病率约为1/1000-1/5000,男性较女性多见.近年来越来越多研究表明ARVC与基因突变相关,尤其是编码桥粒蛋白基因,但具体发病机制仍不明确。     

致心律失常性右室心肌病研究进展

致心律失常性右室心肌病(ARVC)是一种新命名的原发性心肌病,其病因和发病机制至今未明。过去研究报道的病因发病机制有炎症、免疫、退行性变及个体发育不良等几种学说,但新近越来越多的研究表明其与凋亡和基因突变有关。ARVC以青壮年男性多见,多有家庭病史和遗传倾向,属常染色体显性遗传,是年轻人较常见的猝死原因之一。心脏病变的特征是右心室心肌局灶性或大片被脂肪和纤维脂肪组织所取代,正常心肌被分隔成岛状或块状,散在分布于纤维脂肪组织间,右心室壁变薄、右心室腔扩张。鉴别诊断主要是扩张型心肌病和脂肪心等。尸检时除应全面系统地解剖外,心脏需多部位,特别是右心室取材做病理切片检查。     

病毒性心肌炎和扩张性心肌病中Dystrophin蛋白的表达

目的探讨病毒性心肌炎和扩张性心肌病的发病机制及相互关系,从而提高心性猝死法医学鉴定的可靠性和准确性。方法对17例对照(包括正常心脏、冠心病、高血压性心脏病等),25例病毒性心肌炎和28例扩张性心肌病的心肌组织进行改良的病理学dystrophin免疫组织化学研究。结果dystrophin蛋白在对照组,病毒性心肌炎组和扩张性心肌病组中阳性表达率分别为100%,88%,57%,三组表达差异有显著性(P<0.05),且在病毒性心肌炎和扩张性心肌病组间表达有显著差异(P<0.05),经Spearman等级相关分析呈显著负相关(r=-0.526)。结论病毒性心肌炎和扩张性心肌病心肌中细胞骨架蛋白均有破坏,且随着由病毒性心肌炎进展为扩张性心肌病,dystrophin蛋白表达逐渐降低,说明在病毒性心肌炎和扩张性心肌病的发病机制中可能与dystrophin的被破坏有关,病毒感染并破坏心肌细胞骨架蛋白并最终导致心肌细胞坏死,心功能受损,从而使病毒性心肌炎进展为扩张性心肌病。     

酒精性心肌病的研究进展及其法医学鉴定

随着我国社会经济的不断发展,由过量饮酒导致的一系列疾病的发病率也在逐年升高。酒精性心肌病是指长期大量摄入乙醇,并具有典型的扩张型心肌病的血流动力学变化、症状、体征及影像学特点,同时排除其他能导致扩张型心肌病原因的一种心肌病。因缺乏特异性病理形态学改变,酒精性心肌病的法医病理学鉴定也只能建立在患者的病史和排除其他可导致心肌病原因的基础上。本文就酒精性心肌病的发病机制及法医学鉴定予以综述,以期为法医病理学工作者及临床医生提供参考。     

致心律失常性右心室心肌病

致心律失常性右心室心肌病是以右心室心肌被脂肪或纤维脂肪组织取代为特征的一种原因尚不明确的心肌病。目前已公认是年轻人猝死的重要原因之一。ARVC最显著的病理学特征是弥散性或节段性的右心室游离壁心肌的缺失及纤维脂肪组织的替代,从组织形态学可将ARVC分为两型:(1)单纯脂肪型;(2)纤维脂肪型。与纤维脂肪组织取代右心室心肌有关的发病机制:(1)细胞凋亡或程序性细胞死亡理论;(2)炎症理论;(3)心肌发育不良理论;(4)肌细胞转分化理论。     

19例原发性心肌病猝死案例的病理学研究

本文对19例原发性心肌病猝死的尸检案例的发病年龄、职业特点及病理学改变进行了分析和讨论，其中扩张性心肌病11例,肥厚性心肌病8例．     

羊皮纸心猝死1例

1案例资料赵某,女,30岁。某日下午,在家中与丈夫发生争执时突然倒地死亡。死后24h尸检,右眼睑见一长0.5cm挫裂创,左鼻腔见血迹附着,上唇粘膜小片状破损,其余体表未见损伤。解剖见心脏略大于死者右拳,质地较软,心外膜见少量出血点,右心外膜见大量脂肪组织,右心室壁厚0.2cm,左心室壁厚1.0cm,各瓣膜未见狭窄、异常,冠状动脉通畅。镜检见右心室壁脂肪组织由心外膜向心内膜条状生长,部分区域接近心内膜,可见心肌纤维被浸润的脂肪组织所替代(照片1),局部区域心肌纤维被脂肪组织分割成岛状,心肌纤维间偶见淋巴细胞浸润,左心室壁及室间隔脂肪组织增生较轻,其他各脏器呈淤血、水肿改变。胃、胃内容物及肝组织中未检出常见毒物。2讨论羊皮纸心亦称致心律失常性右室心肌病(ARVC),因其病变广泛时右心室壁菲薄如纸而得名。ARVC是以右心室心肌被脂肪或纤维脂肪组织进行性替代为特征的一种原因尚不明确的心肌病。1995年世界卫生组织(WHO)和国际心肌病学协会(ISFC),首次按照病理改变将ARVC作为与扩张型心肌病、肥厚型心肌病、限制型心肌病并列的原发性心肌病,认为是青壮年猝死的重要原因之一[1]。该病的临床诊断方法有心电图、超声心动...     

线粒体 DNA突变与心肌病关系的研究进展

人类某些疾病与线粒体DNA(mtDNA)基因组缺陷有关.本文就mtDNA突变与缺血性心肌病和肥厚型心肌病关系的研究加以回顾.目前的研究大多认为心肌缺血缺氧致氧化磷酸化紊乱,产生氧自由基损伤mtDNA,以及缺氧致氧化磷酸化过度诱导而损伤mtDNA,慢性损伤积累终致mtDNA片断缺失或点突变,主要表现出mtDNA5.0kb、7.4kb缺失及细胞色素b(cytb)基因上C15452A点突变;tRNA基因保守序列突变,致肌肉收缩蛋白合成缺陷,缺陷的收缩蛋白持续而无效的收缩可能会增加心肌对ATP的代谢需求,因此导致心肌肥厚.     

Cardiac rupture due to severe fatty infiltration in the right ventricular wall

An extremely rare case of sudden death caused by cardiac rupture due to severe fatty infiltration in the right ventricular myocardium is presented. The patient, a 74-year-old woman, had no history of chest trauma, hypertension, or pulmonary disease. The autopsy showed a small tear in the right ventricle and cardiac tamponade, but no coronary artery lesion. In the right ventricular myocardium, muscle fibers were definitely atrophic or absent, with massive fatty replacement. Fatty infiltration of the myocardium, if severe, can be a cause of serious cardiac dysfunction or, occasionally, sudden death.     

Arrhythmogenic right ventricular dysplasia cases in forensic autopsies

Arrhythmogenic right ventricular dysplasia or cardiomyopathy (ARVD or ARVC) is an increasingly recognized entity with clinical and forensic implications. This is the first series documenting ARVD in 5 separate cases in forensic autopsies from Turkey declared as natural sudden cardiac death following complete autopsy and toxicologic analysis. There was a male preponderance (M/F=4), with a mean age of 50.     

Presence of psychoactive substances in oral fluid from randomly selected drivers in Denmark

The aim of this investigation was to identify and characterise pathogenic mutations in a sudden cardiac death (SCD) cohort suspected of cardiomyopathy in persons aged 0-40 years. The study material for the genetic screening of cardiomyopathies consisted of 41 cases and was selected from the case database at the Institute of Forensic Medicine. Mutational screening by DNA sequencing was performed to detect mutations in DNA samples from deceased persons suspected of suffering from hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricle cardiomyopathy (ARVC). A total of 9 of the examined 41 cases had a rare sequence variant in the MYBPC3, MYH7, LMNA, PKP2 or TMEM43 genes, of which 4 cases (9.8%) were presumed to be pathogenic mutations. The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C). The presented data adds important information on the genetic elements of SCD in the young, and calls for expert pathological evaluation and molecular autopsy in the post-mortem examination of SCD victims with structural anomalies of the heart.     

Two cases of right ventricular ischemic injury due to massive pulmonary embolism

In general, massive pulmonary embolism induces severe right ventricular overload, but pathological changes in the right ventricle due to pulmonary embolism is rarely seen. In this report, we describe two autopsy cases of massive pulmonary embolism without pre-existing cardiopulmonary disease. Both cases were accompanied by myocarditis-like changes in the right ventricle and infiltration of a number of polymorphonuclear neutrophils and mononuclear cells into the dilated right ventricular wall. Transmural or subendocardial coagulation necrosis was not apparent. Almost all of the mononuclear cells were immunohistochemically revealed to be CD68-positive macrophages. We speculated that these findings resulted from ischemia due to massive pulmonary embolism.     

Staphylococcal scalded skin syndrome mimicking child abuse by burning

Determining the cause for the sudden death in young adults tends to be complex and difficult. Two cases of death of young people were autoptically investigated who died suddenly while carrying out their hobbies (a 22-year-old male musician and a 20-year-old female dancer). In both cases neither the police investigation, the autopsy, nor the toxicological investigations gave any relevant results. However, when investigating the histology fatty and fibrotic tissue in the right ventricle of the myocardium were found, whereas the myocytes proved to be degenerated--typical for arrhythmogenic right ventricular cardiomyopathy (ARVC). It is important to consider the possibility of heart rhythm failure if a clear reason for sudden death in young adults cannot be detected. Heart rhythm failure often involves the genetic background of the case, which suggests that genetic analysis should be carried out as a supportive means of diagnostics.     

Severe Cardiac Rupture by Only One Blow to the Chest in a Young Boy: An Autopsy Case

Cardiac rupture by blunt chest trauma is commonly seen after motor vehicle accidents and falls; however, it is rarely caused by a blow to the chest. We herein report an autopsy case of a high school boy who sustained severe right ventricular rupture by only one knee kick to the chest during a quarrel. He was hospitalized and developed cardiopulmonary arrest. Emergency surgery was performed, but the patient died. The autopsy revealed no external severe trauma or deformation, but the side wall of the right ventricle contained a large V‐shaped laceration. The other thoracic organs had no injuries. This case illustrates that severe cardiac rupture can occur by only one blow to the chest. Blunt cardiac injuries can occur even if no severe injuries are present on the body surface. We should consider the possibility of severe cardiac injuries regardless of the presence of external injuries.     

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.