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。     

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...     

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 (…     

冠心病猝死100例小冠状动脉法医病理形态学观察

1案例资料1·1一般资料本组100例猝死均为1982~2003年,丹东地区例(60%);Ⅳ狭窄者30例(30%);其组织学改变主要是内皮细胞增生、肿胀,肌性肥厚,腔内积血,微血栓形成,管腔狭窄呈花环状、乳头状、同心圆状等变化。(4)心肌病变:本组100例中均有心肌断裂,其中有陈旧性心肌梗塞者30例,心肌充血者6例,心肌微血栓形成者4例。上述心肌病变均系心缺血性病变;对照组冠状动脉、小冠状动脉及心肌未见明显改变。2讨论(1)病理诊断小冠状动脉狭窄不仅发生于冠状动脉粥样硬化性心脏病,据报道,约有17种疾病可伴有小动脉狭窄病变,因此,小冠状动脉狭窄并非是特异…     

脂肪心的形态学、形态测量学及心肌脂肪含量测定

本文报告100例心脏的形态学、形态测量法及右心室心肌脂肪含量的测定,其中脂肪心58例。根据形态学观察,我们将脂肪心分为4种类型;对脂肪心的发生机理,脂肪心与肥胖和心外膜脂肪组织厚度及心肌内脂肪组织浸润的程度的关系进行了讨论。     

DCM猝死与晚期DCM心肌Cx43表达的比较

目的观察和探讨扩张型心肌病(DCM)猝死与晚期DCM心肌中心肌连接蛋白(connexin,Cx)43表达差异及其意义。方法收集13例DCM猝死者心脏(A组)和5例晚期DCM患者行心脏移植手术切除的心脏(B组),运用免疫组化染色和图像分析技术,检测心肌Cx43阳性表达产物的平均光密度(OD)值和面积(S)值,比较两组间和左右心室间的差异。结果 Cx43阳性表达在A组明显减少,分布不均;在B组表达清晰,主要位于闰盘处。A组与B组心肌Cx43的S值之间的差异有统计学意义(P0.01),而各组左、右心室肌间相比,差异无统计学意义(P0.05);心肌Cx43的OD值,在A组与B组之间,以及各组左、右心室肌间差异均无统计学意义(P0.05)。结论 DCM猝死心肌Cx43表达较晚期DCM心肌明显减少,这种变化可能与DCM患者因心律失常发生猝死有关。     

心肌收缩带坏死在心源性猝死中的病理学特征

目的探讨心肌收缩带坏死在心源性猝死中的病理学特征及意义。方法采用常规HE和PTAH染色方法制片,对心肌收缩带坏死的分布部位、病理学特征等进行观察,并按照坏死程度分级进行分析。结果心肌收缩带坏死在各猝死案例中的分布部位、病理学特征及坏死程度相似,其分布部位与心肌受损的部位有关,左心室乳头肌最易出现,其次为左心室前壁。应激性心肌病导致的猝死中心肌收缩带坏死程度较轻,以1级为多见,其他心肌病以2级为多见。结论心肌收缩带坏死可作为心肌急性缺血的诊断依据,并对死因的判断具有重要意义。     

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.     

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.     

Sudden death due to right ventricular cardiomyopathy

A 21-year-old man died suddenly at a small party. He had had no clinical signs of cardiac disease except for a slightly abnormal electrocardiogram (occasional premature ventricular contractions) since he was 15 years of age. Autopsy examination revealed cardiomegaly (469 g), with right atrial and ventricular dilatation. The right ventricular myocardium was massively replaced with adipose tissue, and there was one isolated fatty lesion in the right side of the ventricular septum. There were no congenital malformations such as a septal defect or valvular deformity. Histologically, muscular fibers remaining in the right ventricular wall showed neither degenerative nor inflammatory changes. An isolated lesion of the ventricular septum consisted of almost complete replacement of the muscle bundles with adipose tissue. Such a pathologic condition has recently been termed right ventricular cardiomyopathy. Postmortem examination is necessary to make a definite diagnosis of the disease, because in most adult cases of the disease, sudden death occurs before there have been any critical signs.     

Sudden cardiac death and right ventricular dysplasia.

Right ventricular cardiomyopathy dysplasia, now a well-established clinical and morphologic entity, was first reported in the medical literature in 1982. The cases of sudden death of two young men are here reported, with macroscopic and histologic findings. The anatomical explanation of such death was a fibrotic, lipomatous, or fibrolipomatous replacement and infiltration of the myocardium of the right ventricle. It is suggested that death due to right ventricular cardiomyopathy seems to be the result of electrical instability of right ventricular myocardium. There were no congenital malformations such as septal defect or valvular deformity. The subjects' heart weights were normal. Signs of myocardial degeneration and necrosis with or without inflammatory infiltrates were not identified.     

Sudden death in right ventricular dysplasia with minimal gross abnormalities

Arrhythmogenic right ventricular cardiomyopathy is emerging as a relatively common cause of exercise-induced sudden death in the young. The diagnostic criteria at autopsy are, however, not fully established, leading to both over- and underdiagnosis. We report a young man and a young woman dying suddenly of right ventricular dysplasia during exercise, in whom the gross autopsy findings in the right ventricle were minimal or even absent. However, the histologic features in both right and left ventricles were typical of the disease, and consisted of fibrofatty infiltrates with typical myocyte degeneration of the right ventricle and subepicardial regions of the left ventricle. These cases illustrate that microscopic findings are diagnostic and may be present in the absence of gross findings. Marked fat replacement is not essential for the diagnosis of right ventricular dysplasia, and the right ventricle should be extensively sampled histologically in all cases of sudden unexpected death, especially those that are exercise related.     

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.     

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.