Sudden Death

猝死
  • 文章类型: Case Reports
    最近,中年人猝死的发生率令人担忧。主要是,心血管疾病成为这种不合时宜的死亡背后的主要原因。在这些悲剧性事件中,心肌梗塞及其随后的并发症是最常见的情况。尽管这是一个相对罕见的事件,心脏填塞是心肌梗死后可能发生的罕见但致命的并发症之一。这种情况表现在心包腔充满血液或血凝块时,妨碍心脏的正常功能.通常,据报道,患有心脏压塞的患者通常死于猝死,先前的胸痛病史是一个常见的指标。心脏压塞的明确诊断通常发生在尸检期间。我们考虑一名38岁的男子在其住所被发现失去知觉,并在到达医院时被宣布死亡。随后的尸检结果揭示了心包腔内存在血液和血凝块,伴随右心室破裂和左冠状动脉闭塞。组织病理学分析进一步证实了这一悲剧性事件的根本原因是急性心肌梗死。
    In recent times, there has been a concerning rise in the incidence of sudden death among individuals in middle age. Predominantly, cardiovascular diseases emerge as the leading cause behind such untimely fatalities. Myocardial infarction and its subsequent complications stand out as the most frequently encountered scenarios in these tragic events. Despite being a relatively uncommon occurrence, cardiac tamponade represents one of the rare yet fatal complications that can ensue following a myocardial infarction. This condition manifests when the pericardial cavity becomes filled with either blood or blood clots, impeding the heart\'s normal functioning. Typically, patients experiencing cardiac tamponade are often reported to have succumbed to sudden death, with a preceding history of chest pain being a common indicator. The definitive diagnosis of cardiac tamponade usually occurs during post-mortem examinations. We consider the case of a 38-year-old man who was discovered unconscious at his residence and was pronounced dead upon arrival at the hospital. Subsequent autopsy findings unveiled the presence of both blood and blood clots within the pericardial cavity, in conjunction with a rupture in the right ventricle and occlusion of the left coronary artery. Histopathological analysis further confirmed the root cause of this tragic event as an acute myocardial infarction.
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  • 文章类型: Journal Article
    法医病理学家需要对自然猝死的各种原因有全面的了解。我们描述了一例由于大的食管旁血肿破裂而导致60多岁的女性突然意外死亡的病例。讨论了验尸和鉴别诊断。全身死后CT成像(PMCT)的综合发现,目标PMCT血管造影,尸检,和组织学最符合“食管卒中”;食管壁出血的罕见原因。对文献的回顾表明,大多数食管卒中病例是自限性的,致命的并发症极为罕见。我们的病例表明食道中风可以表现为突然的意外死亡。
    Forensic pathologists need to have comprehensive knowledge of a large variety of causes of sudden natural death. We describe a case of sudden and unexpected death in woman in her sixties due to rupture of a large paraesophageal hematoma. The post-mortem examination and differential diagnosis are discussed. The combined findings of whole-body post-mortem CT imaging (PMCT), targeted PMCT angiography, autopsy, and histology are most in keeping with \'esophageal apoplexy\'; a rare cause of hemorrhage in the esophageal wall. A review of the literature indicates that most cases of esophageal apoplexy are self-limiting and that fatal complications are exceedingly rare. Our case demonstrates that esophageal apoplexy can present as sudden unexpected death.
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  • 文章类型: Journal Article
    猝死约占工作年龄成年人死亡人数的10%,并且与空气质量差有关。目标:确定高风险人群和潜在的风险调节剂和介体,我们探讨了先前建立的细颗粒物(PM2.5)与按潜在危险因素分层的猝死之间的关联.
    韦克县的猝死受害者,NC,在2013年3月1日至2015年2月28日期间,通过急诊医疗系统筛查报告进行鉴定并作出裁决(n=399).空气质量数据集市上威克县的每日PM2.5浓度与事件和控制期有关。潜在的修饰符包括绿色空间指标,临床状况,左心室肥厚(LVH),和中性粒细胞与淋巴细胞比率(NLR)。使用案例交叉设计,条件逻辑回归估计猝死的OR(95CI)为PM2.5增加5μg/m3,滞后1天,根据温度和湿度进行调整,跨风险因素阶层。
    LVH或NLR高于2.5的个体的PM2.5相关性比没有[LVHOR:1.90(1.04,3.50);NLR>2.5:1.25(0.89,1.76)]的个体。PM2.5对居住在绿色空间较高地区的个人的影响通常较小。
    LVH和炎症可能是不良空气质量和传统危险因素引发心律失常或心肌缺血和猝死的因果途径的最后一步。统计证据与临床知识的结合可以告知医疗提供者其患者的潜在风险。虽然我们的发现可能有助于指导干预措施以减轻猝死的发生率。
    UNASSIGNED: Sudden death accounts for approximately 10% of deaths among working-age adults and is associated with poor air quality. Objectives: To identify high-risk groups and potential modifiers and mediators of risk, we explored previously established associations between fine particulate matter (PM2.5) and sudden death stratified by potential risk factors.
    UNASSIGNED: Sudden death victims in Wake County, NC, from 1 March 2013 to 28 February 2015 were identified by screening Emergency Medical Systems reports and adjudicated (n = 399). Daily PM2.5 concentrations for Wake County from the Air Quality Data Mart were linked to event and control periods. Potential modifiers included greenspace metrics, clinical conditions, left ventricular hypertrophy (LVH), and neutrophil-to-lymphocyte ratio (NLR). Using a case-crossover design, conditional logistic regression estimated the OR (95%CI) for sudden death for a 5 μg/m3 increase in PM2.5 with a 1-day lag, adjusted for temperature and humidity, across risk factor strata.
    UNASSIGNED: Individuals having LVH or an NLR above 2.5 had PM2.5 associations of greater magnitude than those without [with LVH OR: 1.90 (1.04, 3.50); NLR > 2.5: 1.25 (0.89, 1.76)]. PM2.5 was generally less impactful for individuals living in areas with higher levels of greenspace.
    UNASSIGNED: LVH and inflammation may be the final step in the causal pathway whereby poor air quality and traditional risk factors trigger arrhythmia or myocardial ischemia and sudden death. The combination of statistical evidence with clinical knowledge can inform medical providers of underlying risks for their patients generally, while our findings here may help guide interventions to mitigate the incidence of sudden death.
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  • 文章类型: Case Reports
    水肺潜水是一种娱乐活动,通常认为对心血管系统的影响很小。然而,潜水时,增加的环境压力对心血管和肺系统产生多种影响,主要是由于外周血重新分布到中央循环。这种现象,也被称为血移,可能会在不健康的心脏上产生明显的超负荷。
    我们介绍了一名女性患者在水肺潜水过程中发生心源性猝死的情况:验尸后心脏磁共振和尸检显示该患者受到先前未知的肥厚型心肌病的影响。
    潜水会使身体遭受重大的生理变化,这可能会使患病的心脏过度紧张。这种情况表明需要进行一些心血管检查,如超声心动图或,至少,心电图,用于筛查希望进行水肺潜水的受试者的心血管异常。
    UNASSIGNED: Scuba diving is a recreational activity usually considered at low impact on cardiovascular system. However, when diving, increased ambient pressure exerts several effects on the cardiovascular and pulmonary systems, mainly due to redistribution of peripheral blood into the central circulation. This phenomenon, also known as blood shift, may produce a significant overload on a non-healthy heart.
    UNASSIGNED: We present the case of a female patient who experienced sudden cardiac death during scuba diving: post-mortem cardiac magnetic resonance and autopsy revealed that the patient was affected by previously unknown hypertrophic cardiomyopathy.
    UNASSIGNED: Diving exposes the body to significant physiological changes that may overstress a diseased heart. This case suggests the need for some cardiovascular exams, such as an echocardiogram or, at least, an electrocardiogram, for screening cardiovascular abnormalities in subjects who wish to practice scuba diving.
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  • 文章类型: Case Reports
    一名15岁的年轻女孩被发现死在家中。没有任何干预或施加武力的迹象。在前一天,她因心悸入院,疲劳,头痛,脖子肿胀.在体检中,发现甲状腺肿胀和心动过速。在家族史上,她的母亲患有甲状腺疾病。根据实验室值,她的甲状腺激素水平升高。服用β受体阻滞剂后,病人出院,夜间在家中死亡。父母谴责医院的医疗事故;因此,进行了法医尸检。根据现有的临床数据,尸检,组织学和毒理学结果,死亡原因为自身免疫性Graves病引起的弥漫性血管内凝血(DIC)所致的多器官功能衰竭.对此案的法医评估并未发现医疗事故。在猝死的情况下,甲状腺疾病的死后诊断可能具有挑战性。然而,正如报告的案例所示,诊断可以在详细评估死前临床数据后确定,尸检结果,组织学,还有毒理学检查.
    A 15-year-old young girl was found dead at home. There were no indications of any intervention or the application of force. On the previous day, she was admitted to hospital because of palpitations, fatigue, a headache, and a swollen neck. During a physical examination, a swollen thyroid gland and tachycardia were found. In the family history, her mother had thyroid disease. According to the laboratory values, she had elevated thyroid hormone levels. After administration of beta-blockers, the patient was discharged and died at home during the night. The parents denounced the hospital for medical malpractice; therefore, a Forensic Autopsy was performed. Based on the available clinical data, the autopsy, histological and toxicological results, the cause of death was stated as multiorgan failure due to disseminated intravascular coagulation (DIC) caused by the autoimmune Graves disease. The forensic assessment of the case does not reveal medical malpractice. Post-mortem diagnoses of thyroid disorders in cases of sudden death can be challenging. However, as the reported case illustrates, the diagnosis could be established after a detailed evaluation of antemortem clinical data, autopsy results, histology, and a toxicological examination.
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  • 文章类型: Journal Article
    右心房破裂导致的心包血猝死并不常见,特别是当这种情况自发发生时,没有任何先前的创伤或心房壁病理的证据。死者是一名32岁的男子。午餐时间他的不安症状,头晕和昏迷开始,不到45分钟他就到达了医院。急诊科无法记录他的生命体征,心肺复苏后,他被宣布死亡。尸检时,孤立的右心房破裂,没有任何心脏壁的疾病,被发现了。右心房的壁最薄弱,通常是腔内压力增加引起的自发破裂的部位。在心包腔中发现了液体血液和凝结的血液。低心房压力会促进凝块形成,因为与心室破裂时相比,在心房破裂时血液进入心包的速度要慢得多。发现了慢性肺部疾病的证据,这解释了心室腔内压力的升高。即使没有外伤或心肌梗塞史,贝克三合会——充血的颈部静脉,低沉的心音,和低血压-应该提醒急诊室工作人员心脏压塞的可能性,因为,在一个非常不可能的情况下,可能发生自发性心壁破裂。
    Sudden death from haemopericardium as a result of a right atrial rupture is uncommon, most particularly when this occurs spontaneously without any prior trauma or evidence of atrial wall pathology. The deceased was a 32-year-old man. At lunchtime his symptoms of unease, giddiness and unconsciousness began and within 45 minutes he arrived at the hospital. His vitals could not be recorded in the emergency department, and after CPR, he was pronounced dead. At autopsy, an isolated right atrial rupture, without any disease of the heart wall, was discovered. The right atrium has the weakest wall and is frequently the site of spontaneous rupture brought on by increased intraluminal pressure. Both liquid blood and clotted blood were found in the pericardial cavity. Low atrial pressure encourages clot formation because it causes considerably slower blood entry into the pericardium at the time of atrial rupture compared with entry at the time of ventricular rupture. Evidence of chronic lung disease was found which explains the raised intraluminal pressure of the heart chambers. Even with no history of trauma or myocardial infarction, the Beck triad - an engorged neck vein, a muffled heart sound, and low blood pressure - should alert the emergency room staff to the possibility of cardiac tamponade because, in a very unlikely scenario, spontaneous cardial wall rupture might occur.
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  • 文章类型: Case Reports
    背景:考虑到对家庭的影响,需要对儿童猝死(SUDC)进行全面评估,父母和兄弟姐妹。发生SUDC时应考虑先天性代谢错误(IEM),例如中链酰基辅酶A脱氢酶缺乏症(MCADD)。我们的目标是为一个家庭提供两个连续的SUDC,并讨论揭示IEM含义的验尸遗传学调查。
    方法:当先证者,一个4岁的女孩,死了.几年前,她的哥哥在同样的年龄和同样的条件下去世。多年后,为了进行验尸诊断,他的尸体挖掘是必要的。发现这两个兄弟姐妹具有相同的ACADM基因致病基因型,ACADM(NM_000016.5)中的杂合取代:c.985A>Gp.(Lys329Glu)和c.347G>Ap.(Cys116Tyr)。此外,他们还在TECRL中携带了VUS,与儿茶酚胺能多形性心动过速(CPVT)和SUDC有关的基因。
    结论:我们说明了外显子组分析对调查无法解释的猝死的重要性,尤其是在儿童中,可能对家庭遗传咨询产生影响。在这种情况下发现ACADM基因的含义,提高了法国等国家公共卫生系统的可能责任,他们推迟了新生儿筛查这些疾病的实施。在这种情况下的外显子组分析检测到与SUDC的第二候选基因的鉴定相关的解释中的意外复杂性。
    BACKGROUND: Sudden Unexplained Death in Childhood (SUDC) needs to be fully assessed considering its impact on the family, parents and siblings. Inborn Errors of Metabolism (IEM) such as Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) should be taken into consideration when SUDC occurres. Our aim is to present a family with two successive SUDC and to discuss the post-mortem genetics investigations revealing an IEM implication.
    METHODS: A complete autopsy with genetic testing was performed when the proband, a 4-year-old girl, died. A few years previously, her older brother had died at the same age and off the same condition. Years later, his exhumation was necessary in order to perform a post-mortem diagnosis.The two siblings were revealed to have had the same pathogenic genotype of the ACADM gene, heterozygous substitutions in ACADM (NM_000016.5): c.985 A>G p.(Lys329Glu) and c.347 G>A p.(Cys116Tyr). In addition, they also both carried a VUS in TECRL, a gene implicated in Catecholaminergic Polymorphic Tachycardia Ventricular (CPVT) and SUDC.
    CONCLUSIONS: We illustrate the importance of exome analyses for investigating unexplained sudden death, especially in children, with the possible impact for genetic counselling in the family. The finding of the implication of ACADM gene in this case, raises likely responsibility of the public health system in countries such as France, who delayed implementation of new born screening for these conditions. Exome analyses in this case detected unexpected complexity in interpretation linked to the identification of a second candidate gene for SUDC.
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  • 文章类型: Case Reports
    法医病理学家经常遇到突然自然死亡的病例。大多数突然的自然死亡归因于心脏原因。急性胰腺炎,尤其是出血性胰腺炎,是猝死的罕见但关键的贡献者。在这种情况下,法医病理学家的作用至关重要,以找出猝死的原因,并确认或驳斥任何指控。在这种情况下,我们描述了一个34岁男性因急性出血性胰腺炎突然死亡的病例,强调需要详细的尸检,病理生理学见解,和诊断挑战。
    Forensic pathologists frequently encounter cases of sudden natural death. Most sudden natural deaths are attributed to cardiac causes. Acute pancreatitis, especially hemorrhagic pancreatitis, is an infrequent yet critical contributor to sudden death. The role of a forensic pathologist is imperative in such cases to find out the cause of the sudden death and to either confirm or refute any allegations. In this context, we describe a case of a 34-year-old male who experienced sudden death due to acute hemorrhagic pancreatitis, highlighting the need for a detailed autopsy, pathophysiological insights, and diagnostic challenges.
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  • 文章类型: Case Reports
    我们介绍了一个青少年的临床病例,其中发现了Brugada综合征的电模式,由于心电图上高通滤波器的设置错误,最终被诊断为Brugada表型。
    We present a clinical case of a teenager in whom a Brugada syndrome electrical pattern was found which was finally diagnosed as a Brugada phenocopy due to a wrong setup of the high-pass filter on the electrocardiogram.
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  • 文章类型: Case Reports
    心脏病是全世界最常见的死亡原因之一。关于心血管死亡,据估计,每年有500万例是由心源性猝死(SCD)引起的。SCD的主要原因是室性心律失常。基因组研究提供了致病性,可能致病,和不确定意义的变体,可能使个体容易患心脏猝死的原因。在这项研究中,我们描述了一例43岁的患者经历过SCD流产的病例.放置了植入式心脏复律除颤器以防止进一步的SCD发作。诊断为室颤。基因组分析显示MYPN(致病性)中的一些变异,GCKR(可能致病),TTN(不确定意义的变体),SCN5A(不确定意义的变体),MYO6(不确定意义的变体),和ELN(不确定意义的变异)基因,这可能与SCD发作有关。此外,获得了蛋白质-蛋白质相互作用网络,与室性心律失常相关的蛋白质和所涉及的生物过程。因此,这项研究确定了个体中可能与SCD相关并引发SCD的遗传变异.此外,不确定意义的遗传变异,尚未报告,可能导致这种疾病的遗传基础。
    Cardiac pathologies are among the most frequent causes of death worldwide. Regarding cardiovascular deaths, it is estimated that 5 million cases are caused by sudden cardiac death (SCD) annually. The primary cause of SCD is ventricular arrhythmias. Genomic studies have provided pathogenic, likely pathogenic, and variants of uncertain significance that may predispose individuals to cardiac causes of sudden death. In this study, we describe the case of a 43-year-old individual who experienced an episode of aborted SCD. An implantable cardioverter defibrillator was placed to prevent further SCD episodes. The diagnosis was ventricular fibrillation. Genomic analysis revealed some variants in the MYPN (pathogenic), GCKR (likely pathogenic), TTN (variant of uncertain significance), SCN5A (variant of uncertain significance), MYO6 (variant of uncertain significance), and ELN (variant of uncertain significance) genes, which could be associated with SCD episodes. In addition, a protein-protein interaction network was obtained, with proteins related to ventricular arrhythmia and the biological processes involved. Therefore, this study identified genetic variants that may be associated with and trigger SCD in the individual. Moreover, genetic variants of uncertain significance, which have not been reported, could contribute to the genetic basis of the disease.
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