INDICATIONS FOR ANGIOCARDIOGRAPHY

Angiocardiography is indicated in selected cases of heart disease in which a definite diagnosis cannot be made by ordinary methods or in which there is reasonable expectation that the information so obtained may influence the treatment of the patient. Whenever possible, angiocardiography should be done in conjunction with cardiac catheterization. The main indication for angiocardiography is cyanotic congenital heart disease; primarily those cases in which there is a right-to-left shunt. Angiocardiography is occasionally of value in diagnosis of other types of congenital heart disease and in acquired heart disease.     

产前超声诊断结果与胎儿先天性心脏病结局的相关性及危险因素分析

摘要 目的：对比先天性心脏病胎儿与正常胎儿的产前超声差异，分析产前超声诊断结果与胎儿先天性心脏病的相关性及危险因素。方法：选取我院2018年12月到2020年12月共收治的80例有先天性心脏病胎儿的孕妇作为研究对象，将其分为观察组，另选取健康胎儿的80例孕妇进行对比研究，将其分为对照组，对所有孕妇进行彩色多普勒超声进行诊断，分析观察组超声诊断与最终结果，对比两组胎儿的超声诊断情况，并对孕期胎儿先天性心脏病的风险因素进行单因素与多因素logistic回归分析。结果：通过尸检和出生后随访最终确定结果与超声诊断结果对比无显著差异（P＞0.05），超声诊断中有3例漏诊；由于卵圆孔直径大于6 mm、心内膜垫缺损（Endocardial cushion defect, ECD）和单心房胎儿没有正常的四腔心结构，因此无法进行腔室内径的测量，对其他观察组患儿进行测量之后发现，观察组患儿左心发育不全综合征（hypoplastic left heart syndrome, HLHS）的左心房与左心室、法洛氏四联症（Tetralogy of Fallot, TOF）右心室、室间隔缺损（Ventricular Septal Defect, VSD）右心室内径明显低于对照组（P＜0.05）；对可能造成胎儿先天性心脏病的高风险因素进行分析发现，两组孕妇的孕期早期服药、高龄产妇以及家族心脏病史情况对比差异显著，观察组明显更高（P＜0.05）；对所有因素进行赋值，其中"是"或"有"为1，"否"或"无"为0。通过logistic回归分析发现只有孕期早期服药和家族心脏病史为胎儿先天性心脏病的独立危险因素（P＜0.05）。结论：对孕妇进行综合产前超声诊断胎儿先天性心脏病的准确率较高，与最终结果无明显区别；虽然高龄孕妇与胎儿先天性心脏病具有一定关系，但是只有孕期早期服药和家族心脏病史是胎儿先天性心脏病的独立危险因素。     

MENTAL health services

In the diagnosis of congenital heart disease, the cardiologist was formerly concerned with distinguishing the operable from the inoperable cases. With the development of "open" heart operations under hypothermia and extracorporeal circulation, the majority of congenital heart lesions have become correctable. It is now necessary to make an exact anatomic diagnosis preoperatively. The present discussion reviews the diagnostic methods employed by the cardiac team in investigating a patient with congenital heart disease.     

Comparison of echocardiography and 64-slice spiral computed tomography in the diagnosis of congenital heart disease in children

The diagnosis of congenital heart disease in children has been an issue in the medical community. Timely diagnosis and treatment can provide a greater guarantee for children's healthy growth. In recent years, there have been more and more studies on the diagnosis of congenital heart disease in children. This paper compares the advantages and disadvantages of echocardiography and 64-slice spiral computed tomography (CT) in the diagnosis of congenital heart disease in children. In clinical trials, we also tested 64 patients with spiral computed tomography (SCT) and transthoracic echocardiography (TTE) detection of patients and then confirmed the accuracy of the diagnosis by the surgical methods. The two methods of detection, the rate of missed diagnosis, and the rate of misdiagnosis were counted. Through the test results and pathological diagnosis results, the diagnostic accuracy of the two methods were all above 90%, each with its own advantages and disadvantages. The sensitivity of echocardiographic in detecting intracardiac structure abnormalities was relatively high, but when the diagnosis of extracardiac structural abnormalities less than 64-slice spiral CT method, misdiagnosis of TTE was mainly due to extracardiac vascular malformations. Therefore, it is recommended to combine the two methods to improve the diagnosis of congenital heart disease in children.     

Partitioning the heart: mechanisms of cardiac septation and valve development

Heart malformations are common congenital defects in humans. Many congenital heart defects involve anomalies in cardiac septation or valve development, and understanding the developmental mechanisms that underlie the formation of cardiac septal and valvular tissues thus has important implications for the diagnosis, prevention and treatment of congenital heart disease. The development of heart septa and valves involves multiple types of progenitor cells that arise either within or outside the heart. Here, we review the morphogenetic events and genetic networks that regulate spatiotemporal interactions between the cells that give rise to septal and valvular tissues and hence partition the heart.     

“Down syndrome: an insight of the disease”

Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer’s disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease. The genes or miRNA involved in Down syndrome associated Alzheimer’s disease, congenital heart defects (AVSD), leukemia including AMKL and ALL, hypertension and Hirschprung disease are discussed in this article. Moreover, we have also reviewed various prenatal diagnostic method from karyotyping to rapid molecular methods -  MLPA, FISH, QF-PCR, PSQ, NGS and noninvasive prenatal diagnosis in detail.     

Genetics of Congenital Heart Disease: Past and Present

Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.     

四维彩超技术在筛查胎儿先天性心脏病的应用价值分析

目的:探讨四维彩超技术在筛查胎儿先天性心脏病的应用价值。方法:择取我院2012年3月至2014年3月收治的行产前筛查的300例产妇为研究对象,采用四维彩色多普勒超声择取心脏三血管、四腔观、肺动脉分叉、上下腔静脉回流、动脉导管弓、主动脉弓等常规切面,予以胎心各腔血流及胎心率等多项检测,对胎儿是否存在先心病进行综合诊断,并综合胎儿大体解剖状况,与病理诊断及二维超声检查结果进行对比。结果:四维彩超检出率为6.67%,正确率为90.00%;二维超声检出率为6.00%,正确率为83.33%,两组比较差异具有统计学意义(P0.05)。结论:四维彩超技术在筛查胎儿先天性心脏病中具有至关重要的应用价值,有助于指导胎儿先天性心脏病早期治疗,保证患儿预后,值得临床借鉴。     

CARDIAC CATHETERIZATION IN ADULT CONGENITAL HEART DISEASE—A Preliminary Report

The diagnosis of uncomplicated ventricular septal defect and uncomplicated patent ductus arteriosus presents few hazards. Differential diagnosis of atrial septal defect and of transposed pulmonary veins is technically more difficult. The complex nature of most types of cyanotic congenital heart disease requires the combined use of catheterization, determination of circulation times, ventilation studies, and possibly angiocardiography.Reports of eight cases in which cardiac catheterization was carried out illustrate the common forms of acyanotic and cyanotic heart disease and the factors in diagnosis.     

复杂型先天性心脏病诊断：低剂量大螺距双源CT 成像与超声心动图的对比研究

目的:探讨和比较双源CT和超声心动图对于复杂型先天性心脏病的诊断价值。方法:入选先心病患者47例,均使用SOMA TOM Flash CT扫描仪和超声心动图行心血管检查。所有入选患者均由外科手术或心血管造影证实。比较双源CT与超声心动图的诊断准确率。结果:经手术或心血管造影证实心内结构异常共38处,双源CT诊断34处,诊断准确率89.47%,超声心动图诊断37处,诊断准确率97.37%。两种方法比较无统计学差异;证实心外结构异常69处,双源CT诊断66处,诊断准确率95.65%,超声心电图诊断56处,诊断准确率85.51%,双源CT诊断准确率高于超声心动图(X2=7.07,P=0.008)。结论:双源CT诊断心外结构异常的诊断准确率高于超声心动图,两者结合有利于全面、准确的诊断复杂型先天性心脏病。     

手术治疗先天性心脏病患者活动期心内膜炎的相关因素

目的:确定先天性心脏病活动期感染性心内膜炎(active infective endocarditis,AIE)的手术指征。方法:于2003-2011年从71个机构数据库中调查并采集247例患有感染性心内膜炎的儿童及成人先天性心脏病(congenital heart disease,CHD)患者数据,其中74例(30%)进行了AIE手术治疗。回顾性分析患者的年龄、性别、感染心内膜炎前对CHD的诊断、致病微生物和感染部位等数据。结果:与AIE手术治疗必要性显著相关的指标是感染性心内膜炎(infective endocarditis,IE)病发前对心脏异常的诊断缺乏、主动脉瓣IE、瓣周脓肿、心力衰竭以及抗生素发生变化。逐步逻辑回归方程分析结果表明瓣周脓肿、心力衰竭以及抗生素改变是先天性心脏病患者进行AIE手术治疗必要性的独立决定因素。结论:对IE合并CHD的患者而言,当心力衰竭、瓣周脓肿或抗生素变化发生时,手术可作为治疗AIE的一种手段。     

Cardiac catheterization in adult congenital heart disease; a preliminary report

The diagnosis of uncomplicated ventricular septal defect and uncomplicated patent ductus arteriosus presents few hazards. Differential diagnosis of atrial septal defect and of transposed pulmonary veins is technically more difficult. The complex nature of most types of cyanotic congenital heart disease requires the combined use of catheterization, determination of circulation times, ventilation studies, and possibly angiocardiography. Reports of eight cases in which cardiac catheterization was carried out illustrate the common forms of acyanotic and cyanotic heart disease and the factors in diagnosis.     

先天性心脏病患儿术后急性肾损伤的影响因素及尿NGAL、KIM-1的诊断价值分析

摘要 目的：探讨影响先天性心脏病患儿术后急性肾损伤（AKI）的影响因素及尿中性粒细胞明胶酶相关脂质运载蛋白（NGAL）、肾损伤分子1（KIM-1）的诊断价值。方法：选择2018年1月至2019年12月我院心胸外科收治的60例先天性心脏病术后并发AKI患儿（AKI组）和同期收治的172例先天性心脏病术后未发生AKI患儿（NAKI组）作为研究对象。收集患儿临床基线资料,检测尿NGAL、KIM-1水平,采用Logistic回归分析先天性心脏病患儿术后发生AKI的影响因素,受试者工作特征曲线（ROC）分析尿NGAL、KIM-1诊断先天性心脏病患儿术后发生AKI的价值。结果：AKI组年龄、体重低于NAKI组（P＜0.05）,手术时间、心肺转流（CPB）时间、主动脉阻断（ACT）时间、机械通气时间、重症监护室（ICU）住院时间长于NAKI组（P＜0.05）,术后平均动脉压（MAP）、尿素氮（BUN）、血肌酐（Scr）、NGAL、KIM-1高于NAKI组（P＜0.05）。Logistic回归分析结果显示低龄、低体重、CPB时间长、高NGAL、KIM-1水平是先天性心脏病患儿术后发生AKI的危险因素（P＜0.05）。ROC分析显示尿NGAL、KIM-1诊断先天性心脏病患儿术后发生AKI的灵敏度分别为81.67%,83.33%,特异度分别为84.30%,87.79%。结论：低龄、低体重、CPB时间长、高NGAL、KIM-1水平是先天性心脏病患儿术后发生AKI的危险因素,尿NGAL、KIM-1诊断先天性心脏病术后AKI具有较高价值。     

Congenital cardiology: recent advances emphasise the need for collaboration

The population of adult patients with congenital heart disease is steadily growing, due to the developments in cardiac surgery and thereby decreased mortality. However, morbidity in these patients is substantial. Patients with repaired lesions often need reoperations later in life. Most congenital heart defects, operated or not, have the potential to lead to clinical heart failure. Arrhythmias affect up to 50% of patients with congenital heart disease. The prevalence of pulmonary hypertension due to a left-to-right shunt among patients with a congenital heart defect is estimated at 4 to 10%. Advances in diagnostics, interventional and surgical therapy will result in new populations of adult survivors with even more complex disease. Collaboration of cardiologists with expertise in different areas of modern cardiology, such as electrophysiology, imaging and percutaneous interventions, is necessary for optimal care and management of these patients.     

人类单纯性先天性心脏病中TBX5基因的突变及表达研究

本文首次较为完整地报道了藏汉通婚子代群体的14项肤纹参数（其中藏父汉思及汉父藏母各100 例）,并将这些肤纹参数分别与其藏汉父母样本的有关肤纹参数进行比较,再与1000例藏族及1040例 汉族两个大样本的有关肤纹参数进行比较。结果表明：藏汉后代的肤纹特征介于藏族和汉族之间,提示 肤纹参数的多因子遗传本质。     

Cardiac Arrhythmias In Congenital Heart Diseases

Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy.     

Expected and unexpected cardiac problems during pregnancy

Maternal heart disease complicates at least 1% of pregnancies and is one of the most important causes of maternal death. In developing countries rheumatic heart disease remains the major cause of maternal heart disease, while in developed countries maternal congenital heart disease has become more prevalent due to the improved survival of children with congenital heart disease. In addition, the prevalence of coronary artery disease is rising because of unhealthy lifestyle and the tendency to postpone motherhood until the third decade.     

CONGENITAL HEART DISEASE—Comments Regarding Incidence and Natural History

The incidence of congenital heart disease is approximately 1 per cent of all live births. Approximately 60 per cent of patients who die of congenital heart disease do so at less than two years of age. Very few patients with such lesions live beyond 45 years at the very most. In about 70 per cent of patients who are born with cardiac anomalies, the lesions are either of kinds that are already being operated upon successfully or for which operations are now being attempted and often are helpful.     

Congenital heart disease; comments regarding incidence and natural history

The incidence of congenital heart disease is approximately 1 per cent of all live births. Approximately 60 per cent of patients who die of congenital heart disease do so at less than two years of age. Very few patients with such lesions live beyond 45 years at the very most. In about 70 per cent of patients who are born with cardiac anomalies, the lesions are either of kinds that are already being operated upon successfully or for which operations are now being attempted and often are helpful.