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。     

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.     

Myocardial dysplasia of the right ventricle (Uhl's anomaly) as a possible cause of sudden, unexpected death

Partial absence and fatty replacement of the myocardial compacta of the right ventricular wall was observed in five young male adults, four of whom died suddenly and unexpectedly and one in a car accident. In one of these cases there was only one coronary orifice. Four cases of the so-called Uhl anomaly had histological findings indicating dysmorphic myocardial cells associated with minimal lymphohistiocytic infiltrates within the fatty tissue. In one case, chronic destructive inflammation was a prominent feature. Marked dysmorphic alterations in the myocardial fibers suggested the occurrence of arrhythmic episodes as the main cause of sudden heart failure and death.     

Sudden infant death with anomalous origin of the left coronary artery.

Autopsy of a 3-month-old girl, an apparent case of sudden infant death syndrome, revealed anomalous origin of the left coronary artery from the right aortic sinus. Acute angulation of the left coronary artery along the aortic root, as well as a focal intramyocardial course within the ventricular septum, may have contributed to episodic luminal narrowing. Anomalous coronary origins of similar type have been associated with sudden death in children, teenagers, and young adults, but have not necessarily been associated with sudden death in older adults. Somewhat similar malformations have been reported in sudden infant death; two cases involved the left coronary artery and six involved the right.     

Subvalvular aortic stenosis as a cause of sudden death: two case reports

Sudden death is defined as a death that occurs suddenly, develops during an unpredictable course, and is due to natural or unnatural causes. Although there is no universally standardized definition on how "sudden" a sudden death is, WHO defines sudden death as a death that occurs within 24 hours after the onset of symptoms. The aim of this study is to present 2 rarely reported autopsy cases and to emphasize the importance of systemic autopsy at sudden death. On macroscopic examination, crescent-shaped, thick, fibrous membranes, located 5 mm and 3 mm away from the aortic valves, were detected. Fibrous membranes extended from the ventricular septum to the left ventricular outflow tract, thus apparently narrowing this region. Left ventricular wall and septum were slightly thickened, and there were scattered grayish-white areas of a small diameter. These became more intense in the septum and myocardium of the left ventricle on the anterior plane of the myocardial sections. In both cases, the aortic valves of were thickened and also markedly narrowed on one of them. In this case, the fibrous membrane adhered to the aortic valve and extended to the anterior leaflet of the mitral valve at one side. Both aortic valves comprised 3 leaflets. Other valves and coronary arteries showed no macroscopic pathologic findings. Microscopic examination of both cases demonstrated that the fibrous membrane comprising abundant collagen fibers was situated on the ventricular septum. Hypertrophy, moderate to severe interstitial fibrosis, and focal areas of scarring were observed in the specimens taken from the septal and ventricular myocardium. No abnormality was found on the conduction system examinations. Toxicologic analysis results in blood were negative. Based on the findings, membranous-type (discrete type) subvalvular aortic stenosis, diagnosed during the autopsy, was considered as the cause of sudden death in both cases.     

Cardiac rupture in acute myocardial infarction: a reassessment

Cardiac rupture as a complication of acute myocardial infarction (AMI) has been described as occurring infrequently. Because of the recent dramatic decrease in autopsy rates, the authors believe that current studies do not accurately represent the frequency of this catastrophic complication. Autopsy protocols and archived histologic slides of patients with AMI were retrospectively reviewed to determine whether the frequency of cardiac rupture, as a complication of AMI, is altered when a non-hospital-based patient cohort after autopsy is evaluated. This review yielded 153 cases of 41 women and 112 men, whose postmortem examinations revealed gross and histologic evidence of AMI. Cardiac rupture was present in 30.7% of these cases. Of the 47 patients with rupture, 35 had no relevant medical history. The remaining 12 patients had various medical conditions. None of the patients in the rupture group had previously treated symptoms related to coronary artery conditions. Whereas women constituted 26.8% of the total AMI group, they had a cardiac rupture rate of 61%. By contrast, men with AMI had a cardiac rupture rate of 19.6%. All patients in the cardiac rupture group had heart weights over the predicted expected weight as a function of body weight. Age, gender, and heart weight were significant factors associated with cardiac rupture, whereas body mass index was not significantly related. When these factors were evaluated jointly, age was a significant explanatory factor for rupture among both men and women, whereas body mass index and heart weight were significant for men but not for women. When the rupture sites occurred on the left ventricular myocardium, the anterior wall was affected in 21 cases (45%), the posterior wall in 18 (38%), the lateral wall in 4 (9%), and the apex in 3 (6%). The right ventricular myocardium ruptured in 1 case (2%). Most of the patients had severe multivessel coronary artery disease. Histologic study of the specimens showed that the majority of ruptures occurred between 24 and 72 hours after myocardial infarction. This study showed a frequency of cardiac rupture of 30.7% in patients with AMI and sudden death according to medical examiner's records. These findings confirm and reinforce the importance of postmortem examination and autopsy as an adjunct to clinical medical practice.     

Myocardial sarcoidosis in forensic medicine

Sudden death is the most common manifestation of myocardial sarcoidosis, which is often clinically silent. The disease is rarely encountered in forensic medicine, but the diagnosis is important because it may change the interpretation of the manner of death and thus have insurance implications. Six cases of myocardial sarcoidosis diagnosed at autopsy are reported, and the significance of the findings is discussed.     

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.     

Cross-Cultural Lessons on Anger and Social Connectedness

I first started thinking about anger and its role in the experiences of people who have fought in wars when I was in Sierra Leone, about a year after the cease-fire ended the civil war. I was working as a research assistant on a study with girls who had been child soldiers and who had given birth to children during the war. We were living in a community in the west, on the border with Guinea. At first, we met only a few young women. We listened to their stories—about the war, and about what life had been like for them and their children since the end of hostilities.

As days passed, word got around in this rural community that women had come to listen to the experiences of young mothers who had been child soldiers. Girls and young women living in small huts in the jungle surrounding the town, or sharing a house on the edge, began to come with their babies and introduce themselves and tell us their stories. Amid the grief and despair, the worry about how they would have enough food for the next day, I could hear a simmering rage from many young women: anger at not just what had occurred during the war, but how they had been treated when they returned.     

Two consecutive fatal cases of acute myocardial infarction caused by free floating thrombus in the ascending aorta and review of literature

Free floating thrombus in the ascending aorta is an uncommon source of acute myocardial infarction. We report on two cases of young women who died of acute myocardial infarction caused by a free floating thrombus in the sinus of Valsalva obstructing the coronary arteries' ostia. The first case reports on a 30-year-old pregnant woman who anamnestically had episodes with short loss of consciousness and weakness. The second case presents a 37-year-old woman suffering from multiple sclerosis with no previous history of thrombotic events. The review of literature revealed a predominance of women (eight females and three males). Interestingly, the coronary arteries bear no preference concerning the right (RCA) or left coronary artery (LCA) being more often occluded by a free floating thrombus. Especially, younger women (mean age 45.5 years, range 30-59 years) with no history of cardiac symptoms and without atherosclerotic changes seem to be predispositioned. The hypothesis that thrombus formation in cases without plaque disruption may depend on an endothelial erosion which seems to be more common in younger women and promoted by a hyperthrombogenic state is supported by our two cases. A comprehensive literature search revealed, that these are the first two reports on a free floating thrombus being the cause of fatal acute myocardial infarction in a pregnant woman, respectively, a woman suffering from multiple sclerosis.     

Coronary thrombus and peracute myocardial infarction visualized by unenhanced postmortem MRI prior to autopsy

Sudden cardiac deaths are common within the community. They also constitute a substantial part of daily pathologic and forensic case work. However, macroscopic myocardial findings indicating acute ischemia are often absent. Then, diagnosis is based on coronary status in combination with indirect signs of acute cardiac failure. We present a case of sudden cardiac death where diagnosis was based on cardiac postmortem magnetic resonance imaging (pmMRI) findings already prior to autopsy: the heart's anterior basal ventricular septum showed hypointensities in T2-weighted images that raised suspicion of peracute ischemia. The lumen of the left anterior descending artery (LAD) exhibited a lack of otherwise discernible postmortem sedimentation of cellular blood components. Instead of a sharp border between serum and erythrocytes a homogeneous signal was seen within the narrowed lumen of the beginning LAD over a length of 1cm. Based on this, a thrombotic occlusion was assumed. Subsequent autopsy confirmed peracute septal myocardial ischemia secondary to a thrombotic occlusion of the LAD as concluded from the pmMRI.     

An Unexpected Finding in SUDEP Involving a Child: Focal Myocardial Infarct Adjacent to Bundle of His

Sudden unexpected death in epilepsy (SUDEP) is a nontraumatic, nondrowning death of an individual with epilepsy in which an autopsy with appropriate ancillary studies does not identify a cause of death. The mechanism of death in SUDEP is unknown, but is thought to involve cardiac and/or respiratory mechanisms. Research in SUDEP is hindered by a lack of consensus regarding required components of a death investigation before a cause of death may be certified as SUDEP. Histopathologic examination of the cardiac conduction system is not routinely performed in SUDEP death investigations. We present a case of SUDEP where histopathologic examination of the cardiac conduction system revealed a focal myocardial infarct of the summit of the ventricular septum abutting the bundle of His, which potentially provides insight into the mechanism of SUDEP for this particular case, and suggests that routine examination of the cardiac conduction system in SUDEP may be beneficial.     

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。     

Kinking of a coronary artery as a rare complication in mitral valve replacement

We present the case of a 70-year old woman who had elective mitral and aortic valve surgery. She underwent surgery without complications for about 4h until 4 pm. Approx. 3h after surgery her condition deteriorated. 1500ml of blood were collected in the chest drainage until 11 pm. An emergency thoracotomy in the patient's bed showed a ventricular rupture. Death occurred around 11:30 pm. At autopsy, the implants of the biological mitral and aortic valves were found to be sewn tightly. There was no vascular injury and no unusual bleedings to the mediastinum. In the left ventricular wall, a rupture of 1cm and a surrounding fresh myocardial infarction area of 10cm×6cm was noted. Preparation of the coronary arteries showed moderate coronary atherossclerosis without stenosis or clots. The left circumflex coronary artery (LCX) showed a sharp, obviously stenosing kink which had been caused by the mitral valve surgery. Exsanguination due to ventricular rupture following myocardial infarction caused by implant-related "kinking" of a coronary artery, was found to be the cause of death.     

Alcoholic cardiomyopathy versus chronic myocarditis--immunohistological investigations with LCA, CD3, CD68 and tenascin

Dilated cardiomyopathy (DCM) is a disorder of unknown aetiology characterized by the left ventricular cavity enlargement and wall thinning associated with reduced left ventricular wall motion. DCM in chronic alcoholics is supposed to be caused by alcohol induced myocardial damage (alcoholic cardiomyopathy). Nevertheless, cardiotropic viruses, such as enteroviruses have long been suspected as causative agents for at least some forms of DCM. In the present study, 13 cases of DCM in chronic alcoholics were investigated with qualification and quantification of infiltrating leucocytes using immunohistological antibodies against leucocyte common antigen (LCA), T-lymphocytes (CD3) and macrophages (CD68). In addition, the expression of tenascin, playing a role in the initiation of fibrotic changes, was examined. All antigens were known to be possibly enhanced in cases of chronic myocarditis. Using these immunohistological techniques, 2 out of 13 cases had evidence for chronic inflammatory myocardial alterations in the sense of lymphocytic infiltrates (>2.0 CD3 T-lymphocytes/visual field at 400 x (HPF); >7 CD3 T-lymphocytes per mm(2)). These cases were diagnosed as having inflammatory cardiomyopathy. The other cases without myocardial inflammation were diagnosed as idiopathic/alcoholic DCM.     

Histological diagnosis of myocardial sarcoidosis in a fatal fall from a height

The major issues of medico-legal relevance in fatal falls from a height are the manner of death and the reconstruction of the event. We present a peculiar case of a fatal fall from a height of about 9 m, involving a 27-year-old woman. At the death scene investigation, no suicide notes, housebreaking marks, or signs of fight were found, thus weakening both the suicide and homicide hypotheses. Combining circumstantial, autopsy and toxicology data, the kinematic analysis of the jump/fall, and the histological evidence of a myocardial sarcoidosis involving the left ventricle, we hypothesized that the young woman might have accidentally fallen from the window because of a sudden loss of consciousness related to cardiac disease undiagnosed during life. We believe that our brief report is a good example of the powerful additional information that histological investigations can offer for reconstructing the dynamics of the event in falls from a height and other traumatic fatalities.     

Towards Justice for Girls:

Feminist critics of American juvenile justice have often observed the presence of a sexual double standard. Young men, it seems, may explore their sexuality with impunity. The sexually active young women, however, is likely to be defined as “incorrigible” or “uncontrolled” and charged with the youthful crime of status offending. The plight and Australian girls charged with such offences is less well documented. This paper examines and contrasts American and Australian policies in relation to young women before the courts and finds strong parallels. Though the general trend in both countries had been towards greater parity to treatment of the sexes, there is evidence to suggest a recent return to more paternalistic forms of juvenile justice.     

Iatrogenic deaths following treatment for hypertrophic obstructive cardiomyopathy: case reports and an approach to the autopsy and death certification

Hypertrophic cardiomyopathy (HCM) is a disease process which results in a large, heavy heart, with hypertrophy of the interventricular septum (IVS) and left ventricle. HCM accounts for a significant number of cases of sudden cardiac death each year, most infamously in young athletes. The prevalence of the disease has increased over the past several years due to advances in clinical diagnosis and molecular genetic studies. Over this same period, new forms of treatment also have emerged. One such treatment is alcohol septal ablation (ASA). ASA is a procedure performed by a cardiologist, via cardiac catheterization, by injecting pure ethanol into selected arteries which supply the IVS, resulting in a targeted myocardial infarction. This infarct then retracts and forms a scar, decreasing the outflow obstruction and improving the patient's clinical symptoms.The authors report 2 cases of death following ASA treatment of HCM. The first, a 56-year-old male, had his ASA procedure 10 days prior to death. The second decedent, a 76-year-old female, had her procedure only 30 hours before death. These case reports are followed by a discussion about HCM, including pathology, treatments, and treatment-related pathology, before closing with a discussion about death certification in the cases presented and therapy-related deaths in general.     

Mesothelioma of the septum interatriale (author's transl)]

Sudden death of a 21-year-old women. The cause of death was mesothelioma situated in the region of the interatrial septum that has been manifested since childhood as a complete heart block. Neither gravidity nor delivery led to the aggravation of her state of health. The cause of this heart lesion, which was the mentioned rare tumor, was discovered only during the autopsy.