缺血性心脏病猝死的预防

缺血性心脏病是心脏性猝死(SCD)最常见的危险因素,而其又与性别、年龄、种族以及生活习惯、行为方式有关。置入埋藏式心脏转复除颤器(ICD)是SCD后幸存的所有患者降低SCD的首选治疗方式(二级预防),而缺血性心脏病猝死一级预防可采用抗心律失常药,介入治疗以及使用β受体阻滞剂、血管紧张素转换酶抑制剂以及他汀类药物,但是否预防性使用ICD仍存在争议。此外,健康生活方式也应成为预防SCD策略的一部分。     

缺血性心脏病患者的猝死

心脏性猝死(SCD)者中,90％是由缺血性心脏病(IHD)所引起的。SCD的原因为室性纤颤、心室停搏和心肌破裂所致心跳停止。本文的目的在于研究SCD的临床形态学变化。自3414份病理解剖记录中共发现IHD患者的SCD102例,其中不包括脑出血、肺动脉血栓栓塞、糖尿病昏迷、癫痫等心脏外猝死和其它心脏病     

先天性心脏病的分子生物学研究进展

随着遗传病因学和人类分子遗传学的飞速发展，人们对先天性心脏病的发产现机理认识也不断提高。本文综述了产虽分人类先心产现生动物先心病模型分子缺陷的最新进展。     

缺血性心脏病入院前猝死的尸检研究

猝死是缺血性心脏病的重要问题,病因学诊断主要靠尸检。如果急性心肌梗塞已发展至坏死期,诊断比较容易;死于数小时内者,由于无统一的病理诊断标准,故诊断较为困难。本文根据世界卫生组织的方案,重点研究新近心肌梗塞与各种冠状动脉病变和死亡过程的关系。方法:对24小时内死亡的151例作尸检,其中男性114例(38～83岁),女性37例(44～90岁)。摘录死前28天内的前驱症状,并从患者用药情况判断死前病情。吸烟习惯按程度分类。先作冠状动脉造影以显示病变,然后纵行切开仔细检查,根据各支冠     

非缺血性心肌病猝死预防进展

由于非缺血性心肌病（NICM）的发病机制与缺血性心肌病（ICM）不同,预防NICM猝死的各种疗法获益可能不同于ICM。文章结合最近的循证医学研究及指南更新,综述药物、导管消融及ICD对NICM猝死的预防作用。结果提示：药物预防NICM的心脏性猝死的推荐除他汀外与ICM相同,包括ACE/ARB/ARNI、β受体阻滞剂、醛固酮拮抗剂（MRA）;不常规推荐AAD。导管消融治疗室性心律失常由于发生机制不同于ICM,成功率低于ICM,且更多需要心外膜途径消融;ICD在NICM二级预防中的推荐同ICM,在一级预防的作用受到挑战,需进一步研究。     

女性缺血性心脏病的研究进展

传统的危险因素不能有效地评估女性冠状动脉疾病风险,性别因素影响了缺血性心脏病（IHD）病理生理、临床表现、诊断治疗等多个方面.在女性IHD中阻塞性冠状动脉疾病少见,微血管功能障碍可能是主要机制,评估内皮功能可能提高女性IHD诊断的准确性.女性IHD缺血症状显著而频发,常不典型,死亡率较高.相同的治疗策略可以使女性IHD获益,但其死亡率仍高于男性,因此,还需要更多的研究以确定女性IHD最佳的治疗方案.     

基因治疗缺血性心脏病的研究进展

缺血性心脏病是一类严重威胁人类健康的疾患 ,其传统治疗方法主要有药物治疗、血管介入成型术以及外科血管搭桥术。然而一些患者的血管病变为小血管的弥漫性病变 ,药物治疗很难奏效 ,又不能承受外科手术或血管成型术 ,传统的治疗方法远远不能满足临床需要。近年来分子生物学的迅猛发展使心血管疾病的基因治疗成为可能。缺血性心脏病的基因治疗的含义是把治病基因导入缺血冠脉或心肌中 ,使之转录、表达有特定生物功能的蛋白质 ,从而发挥治疗作用。这种新兴的治疗方法又称为基因搭桥术 ,目前已成为研究的热点。基因治疗缺血性心脏病的实现依赖…     

基因治疗缺血性心脏病的研究进展

缺血性心脏病严重威胁着人类的健康,尤其是严重的弥漫性病变,目前临床使用的治疗方法无法取得满意的疗效,根据血管生成的机制应用促血管生成因子、基因治疗等方式进行的治疗性血管生成为此类疾病的治愈带来了希望。本文就促血管生成因子基因治疗缺血性心脏病的研究进展进行综述。     

干细胞治疗缺血性心脏病的研究进展

干细胞移植已经成为治疗缺血性心脏病（心肌缺血和心肌梗死）的新策略,动物实验及早期临床研究都对其治疗效果给予了肯定。然而与动物实验相比,干细胞在临床实践中的应用效果显得差强人意,其作用机制尚不叫确,涉及环节既包括近来热门的干细胞与微环境的相互作用（体内因素）对干细胞增殖与分化的影响,又包括研究者对干细胞细胞类型、移植方式及移植时间等因素的选择和操控（体外因素）,而体外因素之重要性将直接关系到干细胞在体内的存活状况及与微环境作用效果,甚至可能决定干细胞治疗的成败。本文将对体外可控制因素对干细胞治疗缺血性心脏病的影响作一综述。     

miRNA在缺血性心脏病中的研究进展

<正>缺血性心脏病(IHD)是人类健康的主要杀手,已成为世界第一位的死亡原因〔1〕。当IHD发生发展时,外周血中心肌肌钙蛋白(c Tn)、肌酸激酶同工酶(CK-MB)等心肌损伤标志物就会大量升高,特别是c Tn对IHD的早期诊断和治疗提供了依据。但c Tn一般在IHD患者具有典型胸痛症状3.5 h后才会有明显的升高,由于这种相对"延迟"的释放,当被检测出时,心肌     

Postmortem molecular screening in unexplained sudden death

OBJECTIVES: We examined the prevalence of defects in arrhythmia-related candidate genes among patients with unexplained sudden cardiac death (SCD). BACKGROUND: Patients with unexplained sudden death may constitute up to 5% of overall SCD cases. For such patients, systematic postmortem genetic analysis of archived tissue, using a candidate gene approach, may identify etiologies of SCD. METHODS: We performed analysis of KCNQ1 (KVLQT1), KCNH2 (HERG), SCN5A, KCNE1, and KCNE2 defects in a subgroup of 12 adult subjects with unexplained sudden death, derived from a 13-year, 270-patient autopsy series of SCD. Archived, paraffin-embedded myocardial tissue blocks obtained at the original postmortem examination were the source of deoxyribonucleic acid for genetic analysis. RESULTS: Two patients were found to have the same HERG defect, a missense mutation in exon 7 (nucleotide change G1681A, coding effect A561T). The mutation was heterozygous in Patient 1, but Patient 2 appeared to be homozygous for the defect. Patch-clamp recordings showed that the A561T mutant channel expressed in human embryonic kidney cells failed to generate HERG current. Western blot analysis implicated a trafficking defect in the protein, resulting in loss of post-translational processing from the immature to the mature form of HERG. No mutations were detected among the remaining four candidate genes. CONCLUSIONS: In this autopsy series, only 2 of 12 patients with unexplained sudden death were observed to have a defect in HERG among five candidate genes tested. It is likely that elucidation of SCD mechanisms in such patients will await the discovery of multiple, novel arrhythmia-causing gene defects.     

John MacWilliam, evolutionary biology and sudden cardiac death

Sudden death is frequently of cardiac origin, and its most common electrophysiologic mechanism is ventricular fibrillation. The concept that sudden death in human beings is due to ventricular fibrillation was first proposed by MacWilliam exactly 100 years ago, well before the electrocardiogram was invented. To conduct his experimental work, MacWilliam devised methods that laid the foundations for modern cardiac research and that provided the first comprehensive approach to successful cardiopulmonary resuscitation. He recognized the role of the autonomic nervous system in modulating both the mechanical and the electrical properties of the heart, and was the first to suggest that this effect had a role in the genesis of sudden death. On the centennial of his theory of sudden death, MacWilliam's concepts are reviewed in the context of the effect of Darwinian influence on British physiology. It is suggested that his theorem was based on both sound experimental data and comparative physiology, drawing on the new evolutionary principle of similar structure and function in the hearts of various species. MacWilliam's basic physiologic concepts have survived intact for a century, greatly influencing more than three generations of research and practice in clinical cardiology.     

The molecular genetics of arrhythmias and sudden death

The current status of the research in genetics of cardiac diseases causing sudden death is reviewed. Few techniques will impact medicine as will those of molecular biology. The identification of the gene-causing diseases will allow the use of better preventive, diagnostic, and therapeutic options. From genetic counseling at present to gene therapy in the future, the new challenge for the clinician will be to acquire the new information provided by molecular biology and apply it at the bedside to improve the quality of life for the patient.     

The role of molecular autopsy in unexplained sudden cardiac death

PURPOSE OF REVIEW: Sudden cardiac death (SCD) is one of the most common causes of death, with many attributable to cardiac/coronary abnormalities evident at autopsy. A significant number of SCDs, however, particularly in young people, remain unexplained following a medico-legal investigation, including autopsy, and are referred to as autopsy-negative sudden unexplained death (SUD). Due to molecular advances, however, a cardiac channel molecular autopsy may potentially provide a pathogenic basis for SUD and establish cause and manner of death. RECENT FINDINGS: Over the past decade, five population-based investigations of sudden death in young people elucidated the frequency of and causes responsible for these tragic events. The most inclusive epidemiologic study concluded that nearly 30% of SCDs in young people are autopsy-negative (i.e. SUD) and most likely secondary to cardiac channelopathies. Case reports on the post-mortem molecular diagnosis of cardiac channelopathies through the use of a molecular autopsy have been presented. Recently, a molecular autopsy series of SUD identified pathogenic mutations in long QT syndrome and catecholaminergic polymorphic ventricular tachycardia-associated genes in over one-third of cases. Similar post-mortem cardiac channel genetic testing in a large population-based cohort of sudden infant death syndrome has elucidated mutations in 5-10% of cases. SUMMARY: With autopsy-negative SUD accounting for a significant number of sudden deaths in young people, a new role for the medical examiner is emerging. An accurate diagnosis, derived from a molecular autopsy, will guide the appropriate initiation of pre-emptive strategies in hopes of preventing future tragedies among those left behind.     

心房颤动的分子生物学研究进展

心房颤动(atrial fibrillation，房颤)是临床最常见的一种快速持续性心律失常，人们已从临床到基础、从形态结构到细胞电生理水平等方面对其进行了研究。随着研究的深入，对与房颤有关的分子生物学机理的探索也逐步展开，从而可以从更深层次来把握其发生、发展和变化的规律。兹就关于房颤的离子通道、影响因素及家族性疾病的分子生物学研究进展进行综述。