先天性心脏病研究的技术发展

先天性心脏病（congenital heart disease,CHD）指在胚胎发育时期由于心脏及大血管的形成障碍或发育异常而引起的解剖结构异常,或出生后应自动关闭的通道未能闭合（在胎儿属正常）的情形,是一种最常见的出生缺陷性疾病,其发生率大约为4-50/1000初生儿。临床上可分为单纯性先天性心脏病和综合征性先心病。     

复杂先心病并发上消化道出血患儿的护理

先天性心脏病是胎儿时期心脏血管发育异常而形成的先天畸形，分为单纯性先心病和复杂紫绀型先心病。而复杂紫绀型先心病由于肺动脉狭窄，易早期发生肺动脉高压，极易引起食管胃底粘膜下静脉曲张并发上消化道出血，2005年12月，我科收治此例患几经积极治疗，精心护理，取得满意效果，现报道如下。     

北京市怀柔区2001年-2010年先天性心脏病监测结果分析

目的对怀柔区十年围产儿先天性心脏病的监测数据进行分析,了解怀柔区先天性心脏病的发生情况。方法运用描述性统计学方法进行回顾性分析。结果怀柔区围产儿先天性心脏病发病率呈逐年上升趋势,先天性心脏病合并其他畸形占8．4％,其中合并肢体畸形占第一位;单纯性先天性心脏病类型前三位为动脉导管未闭、室间隔缺损、动脉导管未闭合并室间隔缺损。结论出生缺陷监测水平和诊断水平的提高,是造成先天性心脏病发病率升高的主要原因;延长监测时限和追访时限,更全面了解人群先天性心脏病的发病情况;加强专业技术的培训,减少先天性心脏病的漏报。     

先天性心脏病筛查管理模式探讨

先天性心脏病是由于各种原因导致胎儿期心脏及大血管发育异常而致的先天性畸形。国内发病率约为6‰~8‰,意味着我国每年有12~20万的先天性心脏病患儿出生。其中复杂的或生后不经及时有效处理易早期死亡的先天性心脏病约占30%。因此探讨先天性心脏病的筛查与管理模式,加强先天性心脏病的规范化诊疗,对降低先天性心脏病所导致的儿童死亡率和致残率,减轻家庭的经济负担和精神负担具有重要意义。     

中国南方单纯性先天性心脏病患者NKX2.5基因突变的研究

目的对中国南方地区单纯性先天性心脏病患者进行NKX2.5基因胚系突变的筛查,探讨其在单纯性先天性心脏病发生中的作用及基因型与表型的关系。方法应用聚合酶链反应(PCR)结合DNA测序技术,对我国南方地区224例单纯性先心病患者和121例健康个体进行NKX2.5基因(包括基因的编码区,5′和3′非翻译区以及外显子与内含子的连接区域)进行突变分析。结果 NKX2.5基因中未检测到致病突变,仅发现三种已报道的SNPs:rs2277963(c.63AG,GAAGAG,p.Glu21Glu),rs3729753(c.606GC,CTGCTC p.Leu202Leu)和rs703752(c.975-61 GT),基因型频率及等位基因频率与NCBI数据库中已报道的中国人群携带率无显著性差异。结论中国南方地区单纯性先心病患者中NKX2.5基因致病突变极少发生,其致病突变的发现可能限于某些家系或者有特殊表型的先心病患者中。NKX2.5基因在我国南方地区单纯性先天性心脏病中的致病作用有待进一步研究。     

287例先天性心脏病孕期高危因素相关性研究

目的探讨先天性心脏病孕期相关高危致病因素。方法回顾性分析先天性心脏病胎儿的孕妇及对照组孕妇资料,分析比较年龄、孕产次、孕期感染及用药、胎儿合并染色体异常及心外异常与先心病的相关性。结果 (1)孕妇年龄增大与胎儿先天性心脏病风险增大相关,P0.05;(2)先天性心脏病胎儿/患儿合并心外畸形及染色体异常几率较无先天性心脏病胎儿/患儿增高;(3)孕期感染及用药与胎儿先天性心脏病发生相关。结论联合超声检查和染色体核型分析对先天性心脏病胎儿的早期诊断起重要作用;加强孕妇孕早期宣教,避免感染及不合理用药有助于减少先天性心脏病的发生。     

TBX5基因多态性与单纯性先天性心脏病易感性的关联分析

目的探讨TBX5基因上的rs1895585,rs78441425和rs55646156单核苷酸多态性位点与单纯性先天性心脏病易感性的相关性。方法收集112例单纯性先天性心脏病患者及112例正常患者的外周血标本,提取基因组DNA,在Hap Map数据库中选出TBX5基因的标签SNP,运用Illumina Bead Xpress Reader对TBX5基因的标签SNP进行基因分型。结果将病例组与对照组进行关联分析发现,TBX5基因上的rs1895585,rs78441425和rs55646156三个位点在两者之间存在显著性差异。结论本研究发现TBX5基因上的rs1895585,rs78441425和rs55646156三个位点可能与单纯性先天性心脏病发病风险之间存在相关性。     

先天性心脏病病因研究进展

先天性心脏病是新生儿先天缺陷中最为常见的疾病之一.先天性心脏病(congenital heart disease,CHD)是由于心脏、血管在胚胎发育过程中的障碍所至的心脏、血管形态、结构、功能、代谢上的异常.据北京市出生缺陷监测数据显示,先天性心脏病已经成为出生缺陷发生的第一位原因,并成为围产儿死亡和儿童死亡的主要原因.先天性心脏病的病因目前还不能完全阐明,但多数学者认为,除了少数先天性心脏病是单基因突变和染色体畸变引起的,大多数CHD属于多基因遗传病,是由遗传因素和环境因素相互作用引起的,一些先天性心脏病高发家系的研究也证实了这点[1].     

孕期精神刺激与后代单纯性先心病发病关系初探

本文采用１：１配比病例─对照研究方法，调查了单纯性先天性心脏病患儿和其对照之父母孕前和孕期多方面因素。发现母亲孕期精神刺激为该病的危险因素。通径分析和双重筛选逐步回归分析显示：孕期精神刺激与后代先天性心脏病关系密切且主要以室间隔缺损为主。     

余姚地区3593例活产儿先天性心脏病监测结果分析

目的监测余姚市泗门镇活产儿先天性心脏病（先心病）的发病情况和预后，及时掌握我镇近四年先天性心脏病的流行状况、类型和构成。方法对2010～2013年在余姚市泗门镇出生的活产儿进行先天性心脏病监测，并对确诊为先天性心脏病的患儿进行定期随访跟踪。结果共监测活产儿3593例，发现先天性心脏病28例，发病率7.79‰。发病率以2010年最高，高达20.77‰，2012年最低，为2.92‰；≥35岁组产妇分娩的活产儿先天性心脏病发生率高于〈25、25～35≥组：28例先天性心脏病以单纯性房间隔缺损为主17例（占60.71％）；出生7天内儿科医生确诊19例（占67.86％），7天～3个月儿保医生确诊9例（占32.14％）。结论泗门镇先天性心脏病发病率以2010年最高，后3年下降。产妇年龄≥35为先天性心脏病高危因素；儿科联合儿保开展对先天性心脏病的监测和随访，能早期发现先天性心脏病。     

Dimensions of anger-hostility and cardiovascular reactivity in provoked and angered men

This study investigated the relationship between two dimensions of anger-hostility-the expression of anger-hostility and the experience of anger-hostility-and cardiovascular reactivity in provoked and angered men. A serial subtraction task was administered to 41 male undergraduates who were provoked and angered. A measure of the expression of anger-hostility correlated positively and significantly with systolic and diastolic blood pressure (BP) reactivity. There were no significant correlations between a measure of the experience of anger-hostility and cardiovascular reactivity. The two types of anger-hostility were also found to relate differentially to life-style variables that have been identified as risk factors for coronary heart disease (CHD), with only the expression of anger-hostility showing positive relationships with these life-style CHD risk factors. These findings are discussed within the context of a similar differential relationship between the two dimensions of anger-hostility and CAD and CHD. Finally, significant negative relationships were obtained between the experience of anger-hostility and resting BP and heart rate levels. These findings are discussed within the context of other data suggesting that trait anxiety-neuroticism may have protective properties.The research reported in this paper was supported in part by Research Grant HL-36027 from the National Heart, Lung, and Blood Institute.     

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

CHARGE syndrome is characterized by a pattern of congenital anomalies (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital abnormalities, and Ear abnormalities). De novo mutations of chromodomain helicase DNA binding protein 7 (CHD7) are the primary cause of CHARGE syndrome. The clinical phenotype is highly variable including a wide spectrum of congenital heart defects. Here, we review the range of congenital heart defects and the molecular effects of CHD7 on cardiovascular development that lead to an over‐representation of atrioventricular septal, conotruncal, and aortic arch defects in CHARGE syndrome. Further, we review the overlap of cardiovascular and noncardiovascular comorbidities present in CHARGE and their impact on the peri‐operative morbidity and mortality in individuals with CHARGE syndrome.     

Spectrum of congenital heart disease in a tropical environment: an echocardiography study

Echocardiography is a major mode of cardiovascular imaging with versatile applications. Modern two-dimensional echocordiographic techniques provide a comprehensive means for evaluating virtually all forms of congenital heart disease (CHD) found in both adults and children. CHD is an abnormality in cardiocirculatory structure or function that is present at birth, even if it is discovered much later. We set out to describe the spectrum of CHD using echocardiography in two centers in Kano, northern Nigeria. In this retrospective study, transthoracic echocardiography (TTE) data collected from two echocardiography laboratories in Kano over a period of 48 months (June 2002 to May 2006) were reviewed. Patients with diagnosis of congenital heart disease were selected. Information obtained from the records included the age, gender, clinical diagnosis and echocardiographic findings. One-hundred-twenty-two patients had CHD, making 9.3% of the 1312 patients with abnormal echocardiograms. There were 73 males and 49 females (ratio 1.5:1); and their ages ranged from nine days to 35 years. Forty-one (33.6%) children presented for echocardiography before the age of one year, and 69% presented before the age of five years. Thirteen (10.6%) were > or =18 years. Ventricular septal defect (VSD) was the most common echocardiographic diagnosis present in 56 patients (45.9%). Thirty-two (26.2%) had tetralogy of Fallot, and 15 (12.3%) had atrial septal defect (ASD). Ten (8.2%) had endocardial cushion defect, and nine (7.4%) had other congenital heart abnormalities. Coarctation of the aorta and aortic stenosis were rare. CHD is a common cardiovascular problem in our setting, and a number of patients were diagnosed in adulthood. With increasing availability of echocardiographic facilities, more cases of CHD are likely to be identified early.     

The Inhibited Power Motive,Type A Behavior,and Patterns of Cardiovascular Response During the Structured Interview and Thematic Apperception Test

Abstract

The Type A behavior pattern and the inhibited power motive have been implicated in the development of coronary heart disease (CHD). Since it is widely believed that enhanced cardiovascular responsivity may be one mechanism by which individuals develop CHD, the present study examined the relationship of Type A behavior and the inhibited power motive to different patterns of cardiovascular response during two behavioral tasks. Forty-one (24 Type A's, 17 Type B's) male undergraduates underwent the Type A structured interview (SI) and the Thematic Apperception Test (TAT) while a broad range of cardiovascular functions were simultaneously recorded. Different patterns of cardiovascular response were observed during the SI and TAT, and Type A's showed a greater tendency than Type B's to exhibit increased heart rate (HR), systolic blood pressure (SBP), and forearm blood flow (FBF) during the SI and the preparatory phase (but not the story-telling phase) of the TAT. The inhibited power motive was not related to enhanced cardiovascular responsivity during the SI or TAT. The implications of these findings for the development of CHD are discussed.     

Depression, the autonomic nervous system, and coronary heart disease

Depression is a risk factor for medical morbidity and mortality in patients with coronary heart disease (CHD). Dysregulation of the autonomic nervous system (ANS) may explain why depressed patients are at increased risk. Studies of medically well, depressed psychiatric patients have found elevated levels of plasma catecholamines and other markers of altered ANS function compared with controls. Studies of depressed patients with CHD have also uncovered evidence of ANS dysfunction, including elevated heart rate, low heart rate variability, exaggerated heart rate responses to physical stressors, high variability in ventricular repolarization, and low baroreceptor sensitivity. All of these indicators of ANS dysfunction have been associated with increased risks of mortality and cardiac morbidity in patients with CHD. Further research is needed to determine whether ANS dysfunction mediates the effects of depression on the course and outcome of CHD, and to develop clinical interventions that improve cardiovascular autonomic regulation while relieving depression in patients with CHD.     

Cardiovascular consequences of expressing,experiencing, and repressing anger

Psychoanalytic theory's pathogenic view of repression gave rise to the widely held belief that the expression of anger is beneficial to mental and physical health. The present paper reviews a number of experimental and correlational studies which demonstrate that the full expression of anger, with its vocal manifestations, is associated with significant cardiovascular hyperreactivity. Furthermore, epidemiological studies indicate that such expressions of anger are also related to coronary heart disease (CHD) and to some physiological and hormonal changes that have been implicated in the pathophysiology of CHD. On the other hand, neither the mere experience of anger nor its repression has any of the above negative cardiovascular consequences, although the repression of anger seems to have other untoward health consequences.The preparation of this article and some of the research reported therein were supported by a grant from the National Heart, Lung, and Blood Institute (HL-036027).     

鋅指转录因子ZIC3在内脏异位中的研究现状及进展

内脏异位是由于左右非对称性发育异常所致,常与胸腹腔器官的异常偏侧化有关。心脏经常受累,且心脏受累的严重程度通常决定其预后效果。内脏异位患者有特征性的心血管畸形、内脏器官的异常排列以及中线结构发育畸形。在内脏异位患者中第一个被发现有突变的基因是编码锌指转录因子的ZIC3。很多研究证实,ZIC3突变可导致X连锁内脏异位,而且在孤立性先心病中也发现了ZIC3的突变。至今,在内脏异位患者中发现有13个ZIC3突变,其中包括无义突变、错义突变、沉默突变、移码突变以及易位突变等。然而,ZIC3基因在内脏异位,特别是伴复杂先心病中的致病机理仍不是很清楚。本文就ZIC3结构、作用、突变以及其在内脏异位伴先心病中的研究现状及存在的问题做一综述。     

Impact of augmenting dialysis frequency and duration on cardiovascular function

Conventional hemodialysis (CHD) only delivers 10% to 15% of renal function in a nonphysiological intermittent mode. Because it occurs nightly and is sustained over a longer dialysis time, the uremic clearance provided by nocturnal hemodialysis (NHD) far exceeds that of CHD. Increasing the dose and frequency of dialysis by NHD has been demonstrated, in both short- and long-term studies, to reverse several important risk factors for adverse cardiovascular events in patients with end-stage renal disease such as hypertension, left ventricular hypertrophy, systolic dysfunction, conduit artery stiffness, attenuated baroreflex regulation of heart rate, disturbed heart rate variability, sleep apnea, and endothelium-dependent vasodilation. In addition, the Toronto NHD experience has reported an emerging body of evidence demonstrating the benefits of NHD on anemia management, inflammation, and endothelial progenitor cell biology. The mechanism(s) by which nocturnal hemodialysis improves cardiovascular outcomes are under active investigation by our group. It is tempting to speculate that NHD has the potential to decrease endothelial/myocardial injury and restore simultaneously endothelial repair, thereby improving cardiovascular function in patients with end-stage renal disease. The objectives of the present document are (1) to review the mechanisms underlying dialysis-associated cardiovascular morbidity and (2) to describe the restorative potential of NHD on the cardiovascular system.     

Alcohol and cardiovascular health

The substantial medical risks of heavy alcohol drinking as well as the probable existence of a less harmful or safe drinking limit have been evident for centuries. Modern epidemiology studies suggest lowered risk of morbidity and mortality among lighter drinkers. Thus, defining “heavy” drinking as ≥ 3 standard drinks per day, the alcohol-mortality relationship is a J-curve with risk highest for heavy drinkers, lowest for light drinkers and intermediate for abstainers. A number of non-cardiovascular and cardiovascular problems contribute to the increased mortality risk of heavier drinkers. The lower risk of light drinkers is due mostly to lower risk of the most common cardiovascular condition, coronary heart disease (CHD). These disparate relationships of alcoholic drinking to various cardiovascular and non-cardiovascular conditions constitute a modern concept of alcohol and health. Increased cardiovascular risks of heavy drinking include: (1) alcoholic cardiomyopathy, (2) systemic hypertension (high blood pressure), (3) heart rhythm disturbances, and (4) hemorrhagic stroke. Lighter drinking is not clearly related to increased risk of any cardiovascular condition and, in observational studies, is related to lower risk of CHD, ischemic stroke, and diabetes mellitus. A protective hypothesis for CHD is supported by evidence for plausible biological mechanisms attributable to ethyl alcohol. International comparisons and some prospective study data suggest that wine is more protective against CHD than liquor or beer. Possible non-alcohol beneficial components in wine (especially red) support possible extra protection by wine, but a healthier pattern of drinking or more favorable risk traits in wine drinkers may be involved.