胎儿先天性心脏病的病因学及心功能评价的研究新进展

胎儿先天性心脏病的病因学及心功能评价的研究新进展     

风疹病毒感染与先天性心脏病关系的研究

目的 :为寻求诊断风疹病毒 ( RV)感染敏感、特异的方法 ,进一步确定 RV与先天性心脏病 ( CH D)的关系。方法 :以 RV特异的糖蛋白 E1编码的基因保守序列设计引物 ,采用 RT- PCR技术 ,对 30例 CH D及 2 0例非先天畸形 (对照组 )尸体的心肌组织标本进行 RV基因的检测。结果 :1成功地提取了 RV的 RN A,反转录合成 c DN A经扩增得到 42 3bp c DNA区带。 2 30例 CH D阳性7例 ( 2 3.3 ) ,与对照组相比有显著性差异 ( P =0 .0 32 8)。结论 :建立的 RV RT- PCR方法具有良好的敏感性和特异性 ,从分子水平进一步证实 RV感染为 CH D发病的重要因子。     

先天性心脏病有关的风疹病毒Oligo探针与功能基因芯片的设计

目的风疹病毒（Rubella virus,RV）是先天性风疹综合征（先天性心脏病、先天性白内障和耳聋的三联综合征）的致病因素,本研究针对RV全基因组序列的生物信息学特点,设计RV 60-m er长链寡核苷酸探针,探讨寡核苷酸探针和功能基因芯片的设计方法。方法利用生物信息学软件Array Designer 2.0针对RV全基因组设计Tm值相近、长度均一的60-m er探针,利用其BLAST功能将所得探针在GenBank数据库进行序列比对分析,筛选得到RV特异性O ligo探针并设计成功能基因芯片。结果获得11条60-m er O ligo探针,用于打印成DNA芯片,拟用于RV检测与病毒基因表达功能分析。结论利用Array Designer 2.0软件设计芯片探针比常见其他方法更有效,尤其适合于病毒检测和病毒基因功能分析复合型芯片的设计。     

先天性心脏病的诊断方法

先天性心脏病的诊断方法山东医科大学附属医院（２５００１２）郝芳之，赵月芳近年来，先天性心脏病的诊断有了长足进步，兹介绍如下。先心病的诊断目前已由定性发展到定量诊断，即不仅能对先心病的种类、性质作出诊断，而且能对其严重性（包括心脏功能、并发症）作出精确...     

先天性心脏病人心钠素的研究现状

先天性心脏病患儿,由于心内畸形或大血管异常,造成不同程度的心房,心室压力升高。目前研究表明:心房肽(心钠素,ANP)即心钠素及环一磷酸鸟苷(cGMP)的分泌释放与心房压力有关。Debold等最早证明ANP具有强大利钠、利尿、扩张血管及降低血压的作用。本文就小儿时期及先天性心脏病患儿的血浆ANP变化作一综述。一、先天性心脏病儿血浆ANP的分子形式人心纳素(hANP)可分为α、β及γ三种。γ-hANP是人心钠素的直接前体,其c末端结构与α-hANP相同。α-hANP是健康人血浆中的主要活性形式,其不平衡二聚体构成β-hANP。β-hANP的利纳、利尿作用较α-     

先天性心脏病介入治疗现状

进入21世纪，由于技术的推广，特别是Amplatzer封堵器的应用，先天性心脏病（简称先心病）介入治疗蓬勃发展，本文搜集近年来国内外有关先心病介入治疗的文献资料，并对先心病（主要是ASD、VSD和PDA）介入治疗的现状进行综述。     

先天性心脏病的介入治疗进展

随着介入治疗方法及器械的不断发展,逐步拓宽了先天性心脏病治疗的方法,开辟了先天性心脏病介入治疗的新领域。这一治疗方法具有操作简便、痛苦少、成功率高、安全有效、无并发症等优点,为越来越多患者所接受。现着重谈论这一领域的进展。     

先天性心脏病遗传学研究现状及挑战

先天性心脏病（先心病）是一类重要的有临床意义的出生缺陷,保守估计其发生率为50/1000活产儿。该病的遗传学机制相当复杂：染色体畸变,单基因突变和多基因突变都有可能导致先天性心脏畸形。本综述回顾了近年来该领域研究的现状及面临的挑战,并提出未来可能的研究方向。     

CHARGE组合的先天性心脏病

本文复习了５９例有先天性多系统畸形的“ＣＨＡＲＧＥ”组合中心血管病变的类型，临床处理的经验和结果，并讨论了引起死亡的一些危险因素。若患儿具有三大特点（心血管畸形，双侧后鼻孔闭锁或气管食道瘘）中的两个或更多的话，则预后较差，强调对这些患儿的短期和长期处理中必全面的考虑。     

右心声学造影在先天性心脏病诊断上的应用

心脏声学造影即心脏超声造影(又称造影超声心动图)1969 年由Gralniak 首先提出,在彩色多普勒超声心动图问世前在先天性心脏病的诊断方面发挥了重要作用.彩色多普勒(CDFI)的普及应用极大地提高了超声诊断先天性心脏病的准确性, 尤其对于左向右分流性先天性心脏病,CDFI能直观显示异常血流的起源、流向及流速,敏感性高,但在显示右向左分流时则敏感性较低[ 1 ].右心声学造影安全、无创、可重复性强,能提供更为详细的右向左分流信息,特别是在复杂心血管畸形的鉴别诊断中具有重要的诊断价值,可为临床提供丰富的解剖及血流动力学资料[ 2 ].即使在彩色多普勒普及的情况下,对右向左分流的先天性心脏病,右心声学造影仍不失为一种有效的诊断方法.     

Genetics of congenital heart disease

Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease.     

Indications for heart transplantation in congenital heart disease

In this review we have looked at indications for cardiac transplantation in congenital heart disease. An outline of the general principles of the use of transplant as a management strategy both as a first line treatment and following other surgical interventions is discussed. We explore the importance of the timing of patient referral and the evaluations undertaken, and how the results of these may vary between patients with congenital heart disease and patients with other causes of end-stage heart failure. The potential complications associated with patients with congenital heart disease need to be both anticipated and managed appropriately by an experienced team. Timing of transplantation in congenital heart disease is difficult to standardize as the group of patients is heterogeneous. We discuss the role and limitations of investigations such as BNP, 6 minute walk, metabolic exercise testing and self estimated physical functioning. We also discuss the suitability for listing. It is clear that congenital heart patients should not be considered to be at uniform high risk of death at transplant. Morbidity varies greatly in the congenital patient population with the failing Fontan circulation having a far higher risk than a failing Mustard circulation. However the underlying issue of imbalance between donor organ supply and demand needs to be addressed as transplant teams are finding themselves in the increasingly difficult situation of supporting growing numbers of patients with a diverse range of pathologies with declining numbers of donor organs.     

非编码RNA在先天性心脏病中的研究进展

先天性心脏病是心血管结构及心电传导系统先天性畸形疾病的总称,是常见并且严重的出生畸形。随着最新分子生物学及遗传生物学的深入研究,越来越多的证据表明 非编码RNA 与先天性心脏病的发生、发展相关。本文将就目前国内、外非编码RNA 与先天性心脏病的关系的研究进展进行综述。     

先天性心脏病介入治疗进展

先天性心脏病( congenital heart disease,CHD) ,简称先心病,是胎儿期心脏及大血管发育异常所致的先天性畸形,是小儿最常见的心脏病,也是婴幼儿死亡的主要原因之一。该文就房间隔缺损、室间隔缺损、动脉导管未闭三种我国最常见的先天性心脏病的介入治疗进展进行综述。     

Impact of pulmonary vascular resistances in heart transplantation for congenital heart disease

Congenital heart disease is one of the major diagnoses in pediatric heart transplantation recipients of all age groups. Assessment of pulmonary vascular resistance in these patients prior to transplantation is crucial to determine their candidacy, however, it is frequently inaccurate because of their abnormal anatomy and physiology. This problem places them at significant risk for pulmonary hypertension and right ventricular failure post transplantation. The pathophysiology of pulmonary vascular disease in children with congenital heart disease depends on their pulmonary blood flow patterns, systemic ventricle function, as well as semilunar valves and atrioventricular valves structure and function. In our review we analyze the pathophysiology of pulmonary vascular disease in children with congenital heart disease and end-stage heart failure, and outline the state of the art pre-transplantation medical and surgical management to achieve reverse remodeling of the pulmonary vasculature by using pulmonary vasodilators and mechanical circulatory support.     

Transcatheter ablation of arrhythmias associated with congenital heart disease

The improvement of surgical techniques resulted in significant life prolongation of many young patients with congenital heart disease (CHD). However, as these patients reach adulthood, their risk for late complications associated with surgery is also increased. One of the most difficult challenges associated with CHD is the high incidence of cardiac arrhythmias that arise from either the myocardial substrate created by abnormal physiology (pressure/volume changes, septal patches, and suture lines) or the presence of surgical scar. Catheter ablation is proven to be effective in treating atrial and ventricular arrhythmias in structurally normal hearts, and has also been used to treat arrhythmias in adults with congenital heart disease. In this review we provide an overview about diagnostic challenges, mapping and ablation techniques and outcome of patients undergoing transcatheter ablation procedures.     

先心病合并重度肺动脉高压双向分流的外科对策

目的:探讨先天性心脏病伴重度肺动脉高压双向分流的外科对策及疗效。方法:回顾分析32例患者的临床资料,其中,室间隔缺损(VSD)22例,VSD合并房间隔缺损(ASD)5例,动脉导管未闭5例。术前均有不同程度劳力后紫绀,心脏B超提示双向分流,术中测量平均肺动脉压/平均体循环压>0.85,平均0.90±0.15,采用心脏停跳手术6例,不停跳手术26例。房间隔均采用自体心包片做成单向活瓣,以减轻术后早期右心负荷。结果:早期死亡3例(9.4％,3/32)。术后早期均有明显低氧血症,呼吸机支持,平均35.26±17.59小时,无气管切开病例。随访2～86(平均23.6±17.2)月,晚期死亡2例(6.3％,2/32),顽固右心衰3例(9.4％,3/32),其余24例(75％,24/32)恢复良好。结论:先心病伴重度肺动脉高压部分双向分流的病例,采用浅低温心跳不停心内直视手术有利于心肺功能保护,术中作房间隔单向活瓣有利于其早期恢复。