Diagnosis of supravalvular stenosis of the aorta

The authors analyzed the potentialities of combined radiodiagnosis of supravalvular stenosis (SS) and concomitant diseases of the heart and major vessels (Williams-Beuren syndrome) in 7 patients aged 7 mos. to 24 yrs. Polypositional chest and heart x-ray procedure, catheterization of the cardiac cavities, pulmonary artery and aorta, left ventriculography (6), right ventriculography (4) and angiopulmonography were used. The diagnostic potentialities of each method were defined. It was proved that SS practically in all patients was accompanied by major vascular changes in the pulmonary, vertebral, coronary, carotid, subclavicular, renal and other arteries, heart failure (atrial septal defect, and mitral incompetence).     

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.     

X-ray study in infants of the first year of life who had congenital heart diseases: traditions, specific features, new capacities

The paper analyzes the experience with ultrafast computed tomography (CT) used for 4 years to examine 178 babies with complicated congenital heart diseases (CHD), admitted to A.N. Bakulev Research Center of Cardiovascular Surgery, Russian Academy of Medical Sciences, for surgical treatment. It shows the comparative capacities of X-ray study, CT, and catheterized angiography in the diagnosis of CHD and concomitant lung diseases in patients of the first year of life in terms of the physiological and anatomic features of the course of disease. A complex of noninvasive radiation studies is shown to be of high informative value in evaluating the actual anatomy of complicated cardiac and pulmonary anomalies and in detecting the predictors of respiratory complications. The introduction of CT into the traditional algorithm of preoperative examination of patients with CHD has resulted in a considerable reduction in intracardiac diagnostic studies in neonates and infants of the first year of life.     

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。     

Cilia and coordination of signaling networks during heart development

Primary cilia are unique sensory organelles that coordinate a wide variety of different signaling pathways to control cellular processes during development and in tissue homeostasis. Defects in function or assembly of these antenna-like structures are therefore associated with a broad range of developmental disorders and diseases called ciliopathies. Recent studies have indicated a major role of different populations of cilia, including nodal and cardiac primary cilia, in coordinating heart development, and defects in these cilia are associated with congenital heart disease. Here, we present an overview of the role of nodal and cardiac primary cilia in heart development.     

Cilia and coordination of signaling networks during heart development

Primary cilia are unique sensory organelles that coordinate a wide variety of different signaling pathways to control cellular processes during development and in tissue homeostasis. Defects in function or assembly of these antenna-like structures are therefore associated with a broad range of developmental disorders and diseases called ciliopathies. Recent studies have indicated a major role of different populations of cilia, including nodal and cardiac primary cilia, in coordinating heart development, and defects in these cilia are associated with congenital heart disease. Here, we present an overview of the role of nodal and cardiac primary cilia in heart development.     

Estimates of Incidence and Prevalence of Mongolism and of Congenital Heart Disease in British Columbia

There is a need for accurate ascertainment of incidence and prevalence rates of congenital anomalies. In British Columbia the Registry for Handicapped Children and Adults used in conjunction with vital records has proved a valuable source of information. Birth notifications alone cannot be relied upon for incidence data. It was found that seven times as many cases of congenital heart disease were registered subsequently as were reported at birth. The estimated minimal incidence rates of mongolism and congenital heart disease per 1000 live births were 1.46 and 4.75, respectively. The well-known association of maternal age with mongolism was confirmed. Twice as many babies with congenital heart disease (without mongolism) were born to mothers over 39 years of age as would be expected on the basis of the maternal age distribution for all live births in the population. Prevalence estimates of these two diseases compared favourably with other published estimates.     

Xenopus: An emerging model for studying congenital heart disease

Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes.     

Current principles in the use of diagnostic coronary angiography

The paper presents current principles in designing diagnostic coronary angiography by taking into account of fundamental achievements in endovascular medicine in diagnosing and treating various heart diseases. Analyzing the world and Russian experience gained, the authors present basic qualitative and quantitative requirements for X-ray contrast study of cardiac vessels to enhance the information value of coronary angiography. They consider necessary diagnostic criteria to be achieved during the study to choose a surgical or endovascular treatment: a type and number of diagnostic film projections, X-ray anatomy of coronary vessels. The present-day accumulated data on X-ray anatomic features of coronary vessels in coronary heart disease are classified. Current classifications of coronary circulation, principles in the development of collateral blood supply, main sources of collaterals, and the specific features of the coronary bed in patients with coronary heart disease are also given.     

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。     

Region-resolved proteomics profiling of monkey heart

Nonhuman primates (NHPs) play an indispensable role in biomedical research because of their similarities in genetics, physiological, and neurological function to humans. Proteomics profiling of monkey heart could reveal significant cardiac biomarkers and help us to gain a better understanding of the pathogenesis of heart disease. However, the proteomic study of monkey heart is relatively lacking. Here, we performed the proteomics profiling of the normal monkey heart by measuring three major anatomical regions (vessels, valves, and chambers) based on iTRAQ-coupled LC-MS/MS analysis. Over 3,200 proteins were identified and quantified from three heart tissue samples. Furthermore, multiple bioinformatics analyses such as gene ontology analysis, protein–protein interaction analysis, and gene-diseases association were used to investigate biological network of those proteins from each area. More than 60 genes in three heart regions are implicated with heart diseases such as hypertrophic cardiomyopathy, heart failure, and myocardial infarction. These genes associated with heart disease are mainly enriched in citrate cycle, amino acid degradation, and glycolysis pathway. At the anatomical level, the revelation of molecular characteristics of the healthy monkey heart would be an important starting point to investigate heart disease. As a unique resource, this study can serve as a reference map for future in-depth research on cardiac disease-related NHP model and novel biomarkers of cardiac injury.     

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。     

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.     

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.     

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。     

La dysfonction érectile, un marqueur précoce d’atteinte cardio-vasculaire

Erectile dysfunction (ED) affects approximately 100 million men in the world and 50% of men between the ages of 40 and 70 years. The commonest cause is a vascular disorder of penile arteries. ED may therefore be a an early marker of cardiovascular disease (CVD). The main arguments in favour of this assertion are primarily epidemiological, but also pathophysiological, as control of cardiovascular risk factors such as smoking, obesity and hypertension may prevent not only CVD, but also ED. This relationship is particularly strong in diabetic patients, in whom ED can be considered to be an element able to identify patients at risk of asymptomatic heart disease. From a pathophysiological point of view, small calibre penile vessels present signs of obstruction earlier than larger vessels because they are more sensitive to even minor haemodynamic changes. There is also a significant correlation between the severity of ED and the number of vessels affected in patients with coronary artery disease. Endothelial dysfunction is the common denominator underlying these diseases and therefore represents a major cause of ED. Preliminary studies have shown that PDE-5 inhibitors can reduce symptoms, improve exercise tolerance, and reduce endothelial dysfunction in patients after cardiac arrest and in diabetics. In the years to come, ED may therefore be added to the classical cardiovascular risk factors and could characterize a population with an increased risk of coronary artery disease.     

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.     

Effect of cryopreservation on viability and growth efficiency of stromal-epithelial cells derived from neonatal human thymus

The thymus is the major site of T lymphocyte generation and so is critical for a functional adaptive immune system. Since, thymectomy is a component of neonatal surgery for congenital heart diseases, it provides great potential for collection and storage of thymic tissue for autologous transplantation. However, specific investigation into the optimum parameters for thymic tissue cryopreservation have not been conducted. In this research, we evaluated the effect of different cryoprotective media compositions, which included penetrating (Me₂SO, glycerol) and non-penetrating (dextran-40, sucrose, hydroxyethyl starch) components, on the viability and functionality of frozen-thawed human thymic samples to select an optimal cryoprotective medium suitable for long-term storage of thymic tissue and a stromal-epithelial enriched population. Our primary focus was on receiving, low-temperature storage, culturing and evaluation of thymic tissue samples from newborns and infants with congenital heart diseases, who had undergone thymectomy as a part of standard surgical procedure. Thus, this work builds the platform for autologous clinical intervention into the thymus-deficient patients with congenital heart diseases. From our data, we conclude that although there were no significant differences in efficiency of tested cryoprotective media compositions, the combination of Me₂SO and dextran-40 compounds was the most suitable for long-term storage both thymic cell suspensions and thymic fragments based on the viability of CD326⁺ epithelial cells and stromal-epithelial cell monolayer formation.     

49例先天性胎儿心脏疾病的静脉导管血流频谱分析

目的：不同的胎儿先天性心脏疾病通过不同的作用机制影响到胎儿心脏功能,会引起胎儿体内血循环的不同改变。静脉导管是胎儿血循环中重要的组成,也会随之出现相应的频谱改变。通过对49例合并先天性心脏疾病胎儿的静脉导管血流频谱及参数进行分析,研究胎儿不同类型心脏疾病对静脉导管（DV）血流频谱的影响。方法：选取2009年1月至2012年12月间我们在产前超声检查中发现的49例合并先天性心脏疾病的胎儿,分别测量DV血流频谱并进行参数分析,根据DV频谱是否正常分为两组。结果：DV频谱正常组有29例（59.18%）,表现为S波、a波的流速和方向正常,PVIV及DVRI指标位于正常范围。DV频谱异常组有20例,表现为S波流速降低、a波缺失或反向,PVIV及DVRI升高。结论：DV血流频谱和参数是评价胎儿心功能的良好指标。不同种类胎儿心脏发育异常对胎儿心功能影响的作用机制不同,其DV频谱也有着不同改变。通过对DV频谱的波形和参数分析,了解胎儿心脏异常的病生理机制,评价其严重程度和预后,这对于指导临床诊疗有着重要意义。     

49 例先天性胎儿心脏疾病的静脉导管血流频谱分析

目的：不同的胎儿先天性心脏疾病通过不同的作用机制影响到胎儿心脏功能,会引起胎儿体内血循环的不同改变。静脉导 管是胎儿血循环中重要的组成,也会随之出现相应的频谱改变。通过对49 例合并先天性心脏疾病胎儿的静脉导管血流频谱及参 数进行分析,研究胎儿不同类型心脏疾病对静脉导管（DV）血流频谱的影响。方法：选取2009 年1 月至2012 年12 月间我们在产 前超声检查中发现的49 例合并先天性心脏疾病的胎儿,分别测量DV血流频谱并进行参数分析,根据DV频谱是否正常分为两 组。结果：DV频谱正常组有29 例(59.18%),表现为S 波、a 波的流速和方向正常,PVIV 及DVRI指标位于正常范围。DV频谱异 常组有20 例,表现为S波流速降低、a 波缺失或反向,PVIV 及DVRI升高。结论：DV血流频谱和参数是评价胎儿心功能的良好 指标。不同种类胎儿心脏发育异常对胎儿心功能影响的作用机制不同,其DV频谱也有着不同改变。通过对DV频谱的波形和参 数分析,了解胎儿心脏异常的病生理机制,评价其严重程度和预后,这对于指导临床诊疗有着重要意义。