遗传因素与老年心源性猝死的相关性研究进展

老年人心源性猝死(SCD)定义为年龄65岁及以上患者, 在出现症状后1 h内或无症状24 h内突然发生意外死亡, 可能是由于心律失常或血流动力学突变所致。有发病急、进展快、死亡率高的特点。老年人心源性猝死是老年心脏疾病最严重的临床综合征, 心源性猝死占整个猝死病例的80%以上, 多数的老年猝死患者由于心源性猝死引起。临床对心源性猝死的检测手段主要是对家族史、个人史进行筛查, 同时进行体格检查、心电图分析及超声心动图等检查, 但存在针对性不强、检出率低、应用范围相对比较局限等缺点。心源性猝死也具有遗传易感性, 遗传因素在心源性猝死的发生、发展中起着不可忽视的作用。现综述不同心血管疾病基础上猝死与遗传因素间的相关性, 包括基因多态性在老年心源性猝死发生中的作用。     

家族性肥厚型心肌病分子遗传学研究进展

家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病,它是年轻人心源性猝死的首要病因。已发现至少有13种基因的突变可导致家族性肥厚型心肌病,加深对其分子遗传学的认识有利于促进该病的诊断和治疗。现就家族性肥厚型心肌病近期分子遗传学的研究进行了总结。     

心源性猝死危险因素分析

目的探讨和分析心源性猝的危险因素。方法收集和整理在我院2012年04月-2013年10月诊治时发生心源性猝死的心肌患者64例为研究对象,对上述收集对象的临床资料进行整理和分析。结果本组单因素分析显示自发性持续室速、心室颤动(心脏骤停)、晕阙、左室流出道梗阻、非持续性室速等因素为心肌疾病患者发生心源性猝死的危险因素;多因素Logistic分析发现自发性持续性室速、心室颤动、晕阙以及猝死家族史是发生心源性猝死的重要危险因素。结论心肌疾病患者发生心源性猝死的为危险因素呈现综合化、多样化,临床治疗中应给予针对性的预防或治疗,这对降低心肌疾病患者心源性猝死率有着积极的意义。     

浅析导致老年心内科疾病患者发生心源性猝死的危险因素

目的总结和分析导致老年心内科疾病患者发生心源性猝死的危险因素。方法对我院2016年5月-2018年5月收治的25例发生心源性猝死患者的临床资料展开回顾性分析,并通过问卷调查方式,对患者所出现的吸烟、饮酒情况、情绪激动情况、激烈运动情况和是否患有心脏类疾病情况等进行调查和分析,并从中找出可能导致患者发生心源性猝死的危险因素。结果过度吸烟饮酒、剧烈运动、情绪激动、用力排便和患者患有心脏类疾病是导致患者发生心源性猝死的危险因素。结论临床上患者出现过度吸烟饮酒、剧烈运动、情绪激动和患者患有心脏类疾病可能会引发患者出现心源性猝死,医护人员在对患者治疗时需要引起重视,降低患者死亡率。     

房颤相关遗传学研究进展

流行病学研究表明,遗传因素在房颤的发生中发挥了重要作用。高达30%的房颤患者有房颤家族史。迄今为止,人们已经从庞大的基因组中识别出数种罕见的基因变异,这些遗传变异与离子通道、钙离子调控蛋白、纤维化、电传导和炎症介质相关。熟悉房颤的遗传基础有助于对患者进行精确的危险分层,制定个体化治疗方案。本文简要介绍房颤相关遗传学的研究进展。 关键词：心房颤动;遗传学;心力衰竭;卒中;心源性猝死     

心内科老年患者院内心源性猝死的临床探讨

目的分析心内科老年患者院内心源性猝死的临床原因。方法选取2014年6月~2015年6月我院收治的心脏病猝死患者60例作为研究对象,回顾性分析心内科老年患者院内心源性猝死的临床原因和过程。对在住院期间患者的主要病因予以记录分析。结果冠心病、高血压、心脏病等是导致老年患者发生院内心源性猝死的主要病因;饮酒、抽烟和情绪激动用力等是导致老年患者发生院内心源性猝死的常见危险因素。结论心内科老年患者院内心源性猝死的原因比较复杂,因此应详细的了解患者的相关病史,预防导致患者发生心源性猝死的相关危险因素,减少心源性猝死的发生率。     

心脏性猝死的进展

<正>2005年,全球有5800万人死亡,其中非传染性疾病(如心血管疾病、呼吸道疾病、肿瘤等)3500万(60%),随着当前经济水平的发展和医疗技术的进步,心血管疾病、糖尿病等慢性疾病在全球人口死亡中的作用日益凸显,心源性猝死是导致心血管病患者死亡的重要原因,增加对心源性猝死的认识,发现心源性猝死的预防措施,对于降低心源性猝死的发生率具有重要意义。1.心脏性猝死定义当前对于心源性猝死(SCD,sudden cardiac death)     

老年心源性猝死病因学及易患因素

老年心源性猝死病因学及易患因素南京军区南京总医院（２１０００２）林修功老年心源性猝死的病因尽管各种心脏病均可引起老年心源性猝死，但老年心源性猝死的病因学主要是缺血性心脏病，包括心绞痛、心肌梗塞和无症状性的冠心病，以及心肌病（含各种心肌炎）、主动脉瘤与...     

心源性猝死患者的临床特点及动态心电图特征

目的探讨心源性猝死患者临床特点及动态心电图心律失常发生情况。方法 5例动态心电图监测过程中心源性猝死患者,分析其基础疾病、动态心电图演变及心律失常的发生情况。结果冠心病4例,扩张型心肌病1例。死于室速、室颤3例,缓慢性心律失常2例。结论预防心源性猝死应对高危患者进行危险分层,包括动态心电图、射血分数、基础疾病评估等无创检查方法,尤其要重视高危患者心脏缺血事件。     

右室相关心律失常的临床和基础

冠心病或心肌病所致左室结构和电重构是室性心律失常和心源性猝死发生的主要原因.近20年来,右室相关心律失常已受到工作者重视,其好发于青壮年患者,易导致心源性猝死,基础研究尤其是分子遗传学的发展推动了人们对右室相关心律失常发病机制、诊断和预后的认识和理解.右室相关心律失常多见于致心律失常型右室心肌病、Brugada综合征、...     

Molecular genetic aspects of arrhythmias

The sequencing of human genome was completed in 2001. The position of particular DNA base is established-i.e. we know all "letters" in the "book" but we understand only limited number of "words" i. e. only limited number of genes was identified. And the human genome consists of about 30,000 genes from which through the mechanism of alternative RNA splicing more than 100,000 genes can be derived. All the genes of one individual form the genotype. The expression of genotype in particular environment forms the phenotype. What is not present in genotype can neither be present in phenotype. In the last decade a substantial progress was achieved in understanding of membrane processes mostly due to research of relatively rare inherited monogenous arrhythmic syndromes--first of all the long QT syndrome. It is caused by mutations in ion channel genes and it provides a model of arrhythmogenesis on molecular level. Ventricular arrhythmias are important cause of mortality in patients with cardiovascular diseases. New studies have provided strong evidence for familial sudden cardiac death (SCD) aggregation and therefore also genetic influence. Parental history of SCD increases the relative risk of SCD for offspring to 1.8. In the case of both maternal and paternal SCD events the risk for offspring is a remarkable 9.4. There are 3 pathways by which genetic variation may contribute to risk for SCD: 1. alterations in electrogenesis and conduction, 2. formation and stability of atherosclerotic plaque, thrombogenesis and ischemia within the coronary circulation, 3. control of myocardial excitability and vascular motorics. The main objective of both today and future research is identification of inheritable "molecular" risk factors of arrhythmias. Understanding of this level of pathophysiological processes will subsequently lead to new generation of both diagnostic and therapeutic methods.     

Predicting Sudden Cardiac Death in Genetic Heart Disease

Genetic heart diseases are common causes of sudden cardiac death (SCD) in the young and are typically divided into inherited cardiomyopathies and primary electrical heart diseases. Cardiomyopathies associated with risk of SCD include hypertrophic cardiomyopathy (HCM) and arrhythmogenic cardiomyopathy (ACM). The latter includes arrhythmogenic right ventricular cardiomyopathy (ARVC) as well as ACM primarily affecting the left ventricle, such as lamin cardiomyopathy. Primary electrical diseases more commonly seen in clinical practice include Brugada syndrome (BrS) and long QT syndrome (LQTS). Risk stratification of SCD is a central component of the management of patients with these genetic heart diseases. Numerous risk factors have been identified with variable degrees of scientific evidence. More recently, risk prediction models have been developed to estimate the absolute risk of sustained arrhythmias and SCD, to support clinicians and patients in decision making regarding prophylactic implantable cardioverter-defibrillators (ICDs). This paper provides a practical review of the current literature on risk stratification in ARVC and other ACMs, HCM, BrS, and LQTS, and summarises current recommendations for ICD use.     

Is There a Role for Genetics in the Prevention of Sudden Cardiac Death?

The identification of patients at risk for sudden cardiac death (SCD) is fundamental for both acquired cardiovascular diseases (such as coronary artery diseases, CAD) and inherited arrhythmia syndromes (such as the long‐QT syndrome, LQTS). Genetics may play a role in both situations, although the potential to exploit this information to reduce the burden of SCD varies among these two groups. Concerning acquired cardiovascular diseases, which affect most of the general population, preliminary data suggest an association between genetics and the risk of dying suddenly. The maximal utility, instead, is reached in inherited arrhythmia syndromes, where the discovery of monogenic diseases such as LQTS tracked the way for the first genotype‐phenotype correlations. The aim of this review is to provide a general overview focusing on the current genetic knowledge and on the present and future applicability for prevention in these two populations at risk for SCD.     

Sudden cardiac death: an update

Sudden cardiac death (SCD) is a devastating and all too common result of both acquired and genetic heart diseases. The profound sadness endured by families is compounded by the risk many of these deaths confer upon surviving relatives. For those with known cardiac disease, disease‐specific therapy and risk stratification are key to reducing sudden death. For families of a SCD victim, uncovering a definitive cause of death can help relieve the agonising uncertainty and is a vital first step in screening surviving relatives and instituting therapy to reduce SCD risk. Increasing knowledge about the molecular mechanisms and genetic drivers of malignant arrhythmias in the diverse clinical entities that can cause SCD is vital if we are to optimise risk stratification and personalise patient care. Advances in diagnostic tools, disease‐specific therapy and defibrillator technology are improving outcomes for patients and their families but there is still much progress to be made.     

Sudden cardiac death: toward the identification of susceptibity genes

Sudden cardiac death (SCD) remains a major health problem in developed countries with a rate of incidence close to 1/1000 inhabitants/year. In most cases (>80%), SCD occurs as the initial manifestation of a previously ignored cardiac disease, usually coronary artery disease. As a consequence, known risk factors for SCD overlap with those for coronary artery disease and thus are not contributive to identify individuals prone to SCD in the general population. Several clinical studies have demonstrated an increased risk for SCD if one family first-degree relative has experienced SCD, suggesting a genetically acquired susceptibility. Discovering the molecular determinant of this genetic susceptibility may demonstrate extreme value to stratify the risk in the community and to guide prevention. The present review analyses state-of-the-heart research conducted in this field and tentatively measure the distance to be covered before large-scale genetic tests are routinely available in clinical practice.     

Sudden Cardiac Death in Multi-Ethnic Populations

Risk of sudden cardiac death (SCD) varies greatly by ethnicity, and is particularly high in African Americans as compared to Caucasians. The reasons for these racial differences are unclear but are likely multifactorial. Possible differences in coronary and non-coronary risk factors, socioeconomic factors, and genetic factors should all be considered when investigating this observed racial disproportionality in SCD risk. Furthermore, there is a relative paucity of data on the risk of SCD in non-African American minorities, including Asian Americans and Latinos. In this paper, we will review traditional and contemporary data describing these racial differences and potential explanations for them. A careful examination of the racial differences in SCD risk can not only assist in identifying high risk populations and those who may be targeted for early intervention, but can also provide insight into the pathophysiologic mechanisms of SCD.     

Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation

Familial occurrence of sudden cardiac death (SCD) is related to a variety of clinical conditions, which can be delineated in up to 40% of families through a combination of cardiovascular examination and genetic studies. Patients with Lamin A/C gene mutations are at increased risk for SCD, but "laminopathies" are not included into clinical algorithms of SCD. Here we present a family with SCD in the absence of left ventricular dysfunction, related to a Lamin A/C mutation.     

Plötzlicher Herztod ohne strukturelle Herzerkrankung

Background

Sudden cardiac death (SCD) is one of the major causes of death in the industrialized world. A small group of apparently healthy individuals suffer SCD without any structural heart disease as the underlying cause. Often SCD is the first symptom, hence, the majority of these patients are not protected by a defibrillator as primary prevention. It is a great challenge to identify and treat patients at risk before the first event leading to SCD occurs.

Causes

Congenital diseases are long and short QT syndromes, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. Additionally, the Wolff-Parkinson-White (WPW) syndrome still plays a rare but important role as patients may be cured by catheter ablation. In some people with predisposing risk factors, SCD may be caused by specific drugs.

Prevention

A defibrillator is currently the only certain preventive therapy. Innovative subcutaneous defibrillators may be an attractive alternative to conventional transvenous systems for high-risk patients.

Goal

The goal of this article is to depict the causes of SCD in patients without an underlying structural heart disease and give indications on how to identify and treat this patient group.     

Opportunities for sudden death prevention: directions for new clinical and basic research

Sudden cardiac death (SCD) represents an enormous public health problem in all developed countries of the world, yet its magnitude and precise incidence in different populations and disease subgroups remains unclear. There also remain major questions and research challenges in establishing the sensitive and specific markers of SCD risk needed for optimizing therapeutic strategies and allocation of resources, such as implantable defibrillators. In the past, risk factors for coronary artery disease (CAD) have been heavily relied on to identify risk for SCD. However, although a majority of SCD events continue to occur in the context of this disease etiology, risk factors for CAD appear to have relatively limited ability to predict risk in specific individuals and subgroups with enhanced progressive or inherited susceptibility to lethal arrhythmias. This commentary is intended to assess potentials for progress in developing improved approaches to SCD prediction and prevention through new clinical and basic research on the fundamental causes of ventricular arrhythmias, the development of new markers of electrical instability, and better understanding of the role of genetic variability in their origin.     

Systemic lupus erythematosus in patients with sickle cell disease

Sickle cell disease (SCD) is a prevalent genetic disorder that includes sickle cell anemia (hemoglobin SS), hemoglobin SC, and hemoglobin Sb-thalassemia. Patients with SCD present with a defective activation of the alternate pathway of the complement system that increases the risk of capsulate bacteria infection and failure to eliminate antigens, predisposing these patients to autoimmune diseases. The authors describe three patients with SCD that developed systemic lupus erythematosus (SLE). In all patients, SLE diagnosis was delayed because symptoms were initially attributable to SCD. Physicians should be alerted to the possible development of SLE in patients with SCD to not delay the diagnosis and start appropriate treatment.