106例心脏性猝死的病理和相关因素分析

目的探讨心脏性猝死(SCD)的病理基础及相关因素,为SCD的诊断和防治提供线索。方法回顾性分析我院106例SCD的临床病理资料,分析SCD的病因及年龄,SCD的诱因,各种导致SCD病因的病理改变。结果106例SCD中,冠心病49例,心肌炎15例,心肌病20例,主动脉夹层动脉瘤破裂7例,先天畸形6例,克山病2例,心肌萎缩1例,心脏轻微病变6例。106例SCD中85例具有诱因。冠心病是中老年人SCD的最主要原因。冠心病SCD49例中,冠状动脉粥样硬化血管Ⅳ级狭窄40例,27例呈多支Ⅳ级狭窄;发生急性心肌梗死(简称心梗)10例,其中2例合并陈旧性心梗,单纯陈旧性心梗21例,18例无心梗,仅有心肌缺血。心肌炎和心肌病是中、青年人SCD的主要病因。有6例心脏无明显器质性改变,称之为阴性解剖或青壮年不明原因猝死。结论尽早防治冠心病、监测粥样硬化斑块成分、改善心肌供血是预防中老年SCD的根本措施,减少不良刺激和情感应激对预防SCD有一定意义。在解剖阴性者中进行分子基因筛查,对解释病因和SCD危险分层有重要作用。     

Are women worldwide under-treated with regard to cardiac resynchronization and sudden death prevention?

Implantable cardioverter defibrillators (ICDs) have been demonstrated to improve survival in patients with serious structural heart disease. Likewise, cardiac resynchronization therapy (CRT) has assumed an important role in the treatment of patients with symptomatic heart failure because of its demonstrated value in improving functional class, quality of life, exercise capacity, and survival. However, these clinical trials have all primarily enrolled Caucasian males, raising the question as to whether other important subgroups benefit in a comparable way. Women have lower rates of sudden cardiac death (SCD) compared to men, and event rates lag 10–20 years behind those in men. Among patients with known coronary artery disease, women have one-fourth the risk of SCD found in men. Women with heart failure tend to present at an older age than men, and women more often have heart failure with preserved systolic function, a group in whom prophylactic ICD therapy for the prevention of SCD has not been studied. Despite these differences, analysis of clinical trial results shows that women have similar outcomes with ICD and CRT therapy compared to men. There is a lower percentage of women among device therapy patients both in clinical trials and in practice for reasons that are not clear, but at least some of the difference is likely due to differences in age at presentation and co-morbidities. In fact, device therapy overall appears to be under-utilized in both men and women, when implantation rates are compared to the prevalence of heart failure in the population as a whole.     

Hypertrophic cardiomyopathy and sudden cardiac death

Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease that affects the left ventricle. HCM can appear at any age, with the majority of the patients remaining clinically stable. When patients complain of symptoms, these include: dyspnea, dizziness, syncope and angina. HCM can lead to sudden cardiac death (SCD), mainly due to ventricular tachyarrhythmia or ventricular tachycardia. High-risk patients benefit from implantable cardioverter-defibrillators. Left ventricular outflow tract obstruction is not a rare feature in HCM, especially in symptomatic patients, and procedures that abolish that obstruction provide positive and consistent results that can improve long-term survival. HCM is the most common cause of sudden death in young competitive athletes and preparticipation screening programs have to be implemented to avoid these tragic fatalities. The structure of these programs is a matter of large debate. Worldwide registries are necessary to identify the full extent of HCM-related SCD.     

肿瘤坏死因子与云南省地方性猝死关系的研究

目的探讨肿瘤坏死因子-α(tumornecrosisfactor-α,TNF-α)与云南省地方性猝死的关系。方法用ELISA法检测新发病区和非病区人群血浆TNF-α水平,其中猝死病例17份、病区内对照33份、非病区外对照24份。结果新发病区中急性期病例血浆TNF-α水平明显高于病区内对照、非病区外对照及恢复期病例(P<0.05);恢复期病例血浆TNF-α与病区内对照和非病区外对照无差别(P>0.05);病区内对照在病例急性期和恢复期的TNF-α水平相对非病区外对照未出现变化(P>0.05)。结论提示TNF-α作为炎症因子参与云南省地方性猝死心肌缺血损伤后的炎症反应。     

急性心肌梗死心源性猝死KCNJ11基因第635位点的多态性

目的研究急性心肌梗死(AM I)伴心律失常性猝死与KCNJ11基因的相关性。方法应用聚合酶链式反应(PCR)方法对一猝死家系从基因组DNA中扩增KCNJ11基因的全部外显子以及内含子与外显子交界部分,并将PCR产物进行测序,以期发现与猝死相关的突变点,并通过限制性内切酶对测序结果进行验证。结果从测序结果中发现了位于基因保守区的两个突变位点A635G和C655T,经证实仅635位点的突变存在并属于该位点的基因多态性现象。结论KCNJ11基因第635位点存在多态性,其编码的离子通道在AM I诱发的心律失常猝死中可能有重要作用。     

Inherited arrhythmia syndromes leading to sudden cardiac death in the young: A global update and an Indian perspective

Inherited primary arrhythmias, namely congenital long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia, account for a significant proportion of sudden cardiac deaths in young and apparently healthy individuals. Genetic testing plays an integral role in the diagnosis, risk-stratification and treatment of probands and family members. It is increasingly obvious that collaborative efforts are required to understand and manage these relatively rare but potentially lethal diseases. This article aims to update readers on the recent developments in our knowledge of inherited arrhythmias and to lay the foundation for a national synergistic effort to characterize them in the Indian population.     

心脏性猝死的研究进展

心脏性猝死是威胁人类生命的一大杀手,发生率较高.该文从流行病学、病因、发病机制及防治等方面对心脏性猝死的研究进展作一综述.     

Identification of genes associated with sudden cardiac death: a network- and pathway-based approach

BackgroundSudden cardiac death (SCD) accounts for a large proportion of the total deaths across different age groups. Although numerous candidate genes related to SCD have been identified by genetic association studies and genome wide association studies (GWAS), the molecular mechanisms underlying SCD are still unclear, and the biological functions and interactions of these genes remain obscure. To clarify this issue, we performed a comprehensive and systematic analysis of SCD-related genes by a network and pathway-based approach.MethodsBy screening the publications deposited in the PubMed and Gene-Cloud Biotechnology Information (GCBI) databases, we collected the genes genetically associated with SCD, which were referred to as the SCD-related gene set (SCDgset). To analyze the biological processes and biochemical pathways of the SCD-related genes, functional analysis was performed. To explore interlinks and interactions of the enriched pathways, pathway crosstalk analysis was implemented. To construct SCD-specific molecular networks, Markov cluster algorithm and Steiner minimal tree algorithm were employed.ResultsWe collected 257 genes that were reported to be associated with SCD and summarized them in the SCDgset. Most of the biological processes and biochemical pathways were related to heart diseases, while some of the biological functions may be noncardiac causes of SCD. The enriched pathways could be roughly grouped into two modules. One module was related to calcium signaling pathway and the other was related to MAPK pathway. Moreover, two different SCD-specific molecular networks were inferred, and 23 novel genes potentially associated with SCD were also identified.ConclusionsIn summary, by means of a network and pathway-based methodology, we explored the pathogenetic mechanism underlying SCD. Our results provide valuable information in understanding the pathogenesis of SCD and include novel biomarkers for diagnosing potential patients with heart diseases; these may help in reducing the corresponding risks and even aid in preventing SCD.     

Early repolarization syndrome: A cause of sudden cardiac death

Early repolarization syndrome (ERS), demonstrated as J-point elevation on an electrocardiograph, was formerly thought to be a benign entity, but the recent studies have demonstrated that it can be linked to a considerable risk of life - threatening arrhythmias and sudden cardiac death (SCD). Early repolarization characteristics associated with SCD include high - amplitude J-point elevation, horizontal and/or downslopping ST segments, and inferior and/or lateral leads location. The prevalence of ERS varies between 3% and 24%, depending on age, sex and J-point elevation (0.05 mV vs 0.1 mV) being the main determinants. ERS patients are sporadic and they are at a higher risk of having recurrent cardiac events. Implantable cardioverter-defibrillator implantation and isoproterenol are the suggested therapies in this set of patients. On the other hand, asymptomatic patients with ERS are common and have a better prognosis. The risk stratification in asymptomatic patients with ERS still remains a grey area. This review provides an outline of the up-to-date evidence associated with ERS and the risk of life - threatening arrhythmias. Further prospective studies are required to elucidate the mechanisms of ventricular arrhythmogenesis in patients with ERS.     

Atrial fibrillation and its relation to cardiac diseases and sudden cardiac death

Atrial fibrillation (AF) is the most common arrhythmia in adults. Many studies have reported an association between atrial fibrillation and other cardiac diseases including sudden cardiac death (SCD). According to the literature, the prevalence and incidence of atrial fibrillation have been increasing and AF is associated with higher mortality and morbidity. An increased incidence of AF has been described in patients with ischemic heart disease, heart failure, and arterial hypertension. These conditions share some pathophysiological mechanisms with atrial fibrillation, which is, reciprocally, one of their risk factors. As a result, mortality is 2–4-fold higher in individuals with AF. Increased mortality from, and a higher incidence of, ventricular arrhythmias, including ventricular fibrillation (VF), have been found in patients with implantable cardiac defibrillators (ICD), as well as in the general population where AF has been independently related to an up to 3-fold increased risk of cardiac arrest due to VF. The mechanism of action is based on a direct proarrhythmogenic effect of atrial fibrillation, increased cardiac workload, tachycardia-induced ischemia, or heart failure. Risk stratification, optimization of therapy, and screening for subclinical structural heart disease play an important role in the care of patients with atrial fibrillation.     

植入心律转复除颤器作为心力衰竭患者心脏性猝死的一级预防

心力衰竭是多种心脏疾病发展至晚期的一个严重临床综合征,随着人口老龄化速度的加快、心血管疾病发病率的上升,心脏疾病尤其是心肌梗死的有效治疗使更多的患者得以生存,但随后慢性心力衰竭患者日趋增多。心力衰竭最终死亡原因主要是进行性心力衰竭加重和／或心脏性猝死（SCD）。     

老年急性心肌梗塞晚发心原性猝死的临床及病理分析

为了分析老年急性心肌梗塞（ＡＭＩ）２周后发生心原性猝死的原因，本文总结了１２例心原性猝死患者，其中６例进行了尸检。认为无论是持续心肌电不稳定所致的原发性室颤，还是梗塞早期的全并症，如休克、心功能不全，梗塞后心绞痛引起的继发性室颤均为晚发心原性猝死的常见原因。尸检结果表明，老年ＡＭＩ晚发心原性猝死多发生于冠脉病变严重者。对于室颤高危患者应采取积极预防措施，如抗心律失常药物的合理应用、改善冠脉循环及改     

心脏性猝死115例临床因素分析

目的：分析心脏性猝死（SCD）的病因、诱因及心电图表现。方法：对我院115例心脏性猝死的患者进行回顾性分析，结果：SCD的病因中冠心病最常见，猝死时心电图以恶性心律失常为主。结论：积极的发病，祛除诱因，及时发现并纠正心律失常， 有望降低SCD死亡率。     

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death

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Tools for risk stratification of sudden cardiac death: A review of the literature in different patient populations

While various modalities to determine risk of sudden cardiac death (SCD) have been reported in clinical studies, currently reduced left ventricular ejection fraction remains the cornerstone of SCD risk stratification. However, the absolute burden of SCD is greatest amongst populations without known cardiac disease. In this review, we summarize the evidence behind current guidelines for implantable cardioverter defibrillator (ICD) use for the prevention of SCD in patients with ischemic heart disease (IHD). We also evaluate the evidence for risk stratification tools beyond clinical guidelines in the general population, patients with IHD, and patients with other known or suspected medical conditions.     

植入型心律转复除颤器对慢性心力衰竭心脏性猝死的一级预防

目的评价植入型心律转复除颤器（ICD）在慢性心力衰竭患者心脏性猝死一级预防中的治疗作用。方法对2005年1月至2008年12月符合ICD一级预防标准并植入ICD的患者进行随访。ICD的诊断设置室性心动过速（VT）、心室颤动（VF）两个工作区,治疗设置抗-tk,动过速起搏（ATP）、低能量同步转复（CV）和高能量除颤（DF）。术后患者常规给予抗心律失常药物。每3～6个月随访1次,利用程控仪获取ICD储存资料,了解患者心律失常发作情况以及ICD的诊断和治疗是否准确,及时调整相关参数并处理ICD故障。结果共随访了22例患者,平均随访（12．8±8．6）个月。共有10例患者记录到ICD治疗事件。10例患者ICD记录到持续性VT事件,其中由ATP终止6例,CV终止4例。4例患者有VF事件,均1次DF成功。2例ICD将快速心室率心房颤动（AF）识别为VF并进行放电治疗并转复房颤。结论ICD在慢性心力衰竭患者心脏性猝死一级预防中的治疗效果是肯定的,ICD联合抗心律失常药物能有效治疗恶性室性心律失常,预防心脏性猝死。