二维超声产前筛查胎儿先天性心脏病的临床意义

目的探讨二维超声在产前筛查胎儿先天性心脏病的作用。方法以胎儿四腔心切面为基础,左心长轴切面。左右室流出道及心底短轴切面为主要切面。对30910例18～24w胎儿心脏进行筛查,发现严重心脏畸形者予以引产,其它异常者追踪至分娩,进行新生儿超声心动图检查,明确先天性心脏病类型。结果发现胎儿各种先天性心脏畸形25例（伴胎儿多发畸形5例）。其中心内膜垫缺损8例,单腔心2例,左右心发育不良各1例,右室双出口2例,三尖瓣下移1例,永存动脉干1例,心脏肿瘤3例,右位心2例,室间隔缺损4例。结论二维超声是产前筛查胎儿先天性心脏病的有效方法。     

孕产妇对新生儿先天性心脏病筛查认知情况及影响因素分析

目的 探讨孕产妇对新生儿先天性心脏病筛查的认知情况及影响因素,为实施有效的健康教育措施、提高新生儿先天性心脏病筛查率提供科学依据。方法 采用课题组自行设计的调查问卷,对2019—2020年吉林省5个地区就诊和住院并自愿参与的孕产妇进行问卷调查,采用SPSS 25.0软件进行统计分析。结果 本次共调查孕产妇194例,平均年龄为(29.43±4.34)岁,研究对象居住地以城市为主(80.93%);新生儿先心病筛查知晓率为35.57%,新生儿先心病筛查相关知识回答正确率为31.96%;Logistic回归分析结果显示,文化程度和产次是孕产妇新生儿先心病筛查认知的影响因素。结论 孕产妇对新生儿先心病筛查的认知程度较低,并且其认知情况受到文化程度和产次的影响,应实施有针对性和侧重点的健康教育干预措施,提高孕产妇群体对新生儿先心病筛查的认知能力。     

29920例胎儿先天性心脏病产前筛查结果分析

目的探讨胎儿先天性心脏病(先心病)发生趋势、危险因素及其产前诊断情况,为早期筛查、诊断及预防提供依据。方法选择2011~2013年在余姚市3个省属出生缺陷监测点孕产妇分娩的围产儿及28w的治疗性引产儿进行监测。结果余姚市3个省属出生缺陷监测点3年间共分娩29 920例,发现胎儿先天性心脏64例,35岁以上高龄孕妇胎儿先心病发生率明显增加;51.79%是单一类型的先心病、23.21%并发2种类型的先心病、25.00%并发三种以上的先心病;有15.63%合并其他类型的出生缺陷;64例先心病患儿,活产儿仅为15.63%,治疗性引产占67.19%;本市户籍孕母先心病患儿28W终止妊娠比例高于非余姚市户籍孕母。结论余姚市先心病发生率逐年上升,且绝大多数为致死性畸形。做好孕前宣教、孕期保健及胎儿产前先心监测工作,以减少先心病的发生及其不良预后,提高人口素质。     

2007年-2012年北京市先天性心脏病监测资料分析

目的通过分析北京市2007—2012年先天性心脏病监测资料,了解北京市先天性心脏病的发生情况,为先天性心脏病的防控提供相关信息及依据。方法运用描述性统计学方法回顾性分析近6年北京市出生缺陷监测资料。结果近6年北京市先天性心脏病发病率为8．04‰;先天性心脏病合并其他畸形占总的先天性心脏病的比例为12．34％,合并21-三体最为常见;单纯先天性心脏病发病率前三位分别为动脉导管未闭、室间隔缺损及房间隔缺损;2012年先天性心脏病的产前筛查异常率为55．04％。结论先天性心脏痛的发病率呈现上升趋势,但在户籍人口及流动人口中存在明显差异;应加强对先天性心脏病患儿的染色体检查;北京市存在动脉导管未闭过度诊断的现象,应积极推广新生儿心脏病筛查适的宜技术;北京市心脏超声筛查水平逐年提高。     

基层医院胎儿先天性心脏病超声筛查的价值

目的探讨在基层医院对胎儿严重先天性心脏病进行超声筛查的价值。方法对1754例胎儿进行八个心脏切面的检测。结果共检出严重先天性心脏病9例,并经证实,真阳性率100%。结论在基层医院开展胎儿严重心脏超声筛查可行,对优生优育有重要意义。     

苏州市新生儿先天性心脏病早期筛查模式应用

目的 了解苏州市新生儿先天性心脏病筛查现状,探讨先心病的筛查与管理模式,以提高先心病管理水平。方法 选取苏州市2020年分娩的新生儿为研究对象,以“心脏听诊和经皮血氧饱和度测定”为先心筛查指标,对筛查结果阳性者进一步进行心脏超声诊断,对确诊的先天性心脏病患儿随访其3月龄、6月龄生长发育情况。结果 85918名新生儿中,筛查阳性2615例,占3.04%,共诊断新生儿2235例,新生儿先天性心脏病患病率为6.23‰,3月龄共随访到456例先天性心脏病新生儿的健康体检情况,6月龄共随访到451例先天性心脏病新生儿的健康体检情况。结论 通过心脏听诊和经皮脉搏血氧饱和度测定仪测定的联合筛查模式是新生儿先心病的可靠筛查手段,基于助产机构的早期新生儿先天性心脏病筛查对于先天性心脏病的早发现、早诊断、早治疗具有重要意义。     

先天性心脏病的病因学研究进展

先天性心脏病（Congenital Heart Defects,CHD）是一类最常见的出生缺陷。其发病原因中遗传因素占有重要的位置。主要遗传因素有染色体畸变、单基因缺陷、多基因缺陷以及遗传代谢异常几类。本文按照心脏异常的不同种类分别就遗传因素的研究进展进行综述,并对研究前景进行展望。     

胎儿超声心动图在诊断先天性心脏病中的临床意义

目的探讨超声心动图在产前筛查胎儿先天性心脏病的作用。方法以胎儿四腔心切面为基础,左心长轴切面,左、右室流出道及心底短轴、主动脉弓和三血管为主要切面。对1021例22w~28w胎儿心脏进行筛查,发现严重心脏畸形者予以引产,其它异常者追踪至分娩,进行新生儿超声心动图检查,明确先天性心脏病类型。结果发现胎儿各种先天性心脏畸形40例（伴胎儿多发畸形5例）。其中：室间隔缺损10例,心内膜垫缺损4例,法洛氏四联症5例,单腔心1例,左、右心发育不良各1例,右室双出口2例,三尖瓣下移畸形1例,永存动脉干1例,完全性大动脉转位2例,矫正型大动脉转位2例,心脏肿瘤3例,右位心1例,完全性肺静脉畸形引流1例,主动脉狭窄2例,动脉导管提前收缩2例,动脉导管走形扭曲1例。结论胎儿超声心动图是产前筛查胎儿先天性心脏病的有效方法。     

社区／乡镇0至3岁儿童先天性心脏病筛查-诊断-评估适宜技术的建立与应用

目的通过应用7项先天性心脏病（简称先心病）筛查指标和超声心动图诊断技术,评价先心病筛查-诊断-评估体系在中国社区／乡镇医院的运行效果,为进一步推广和实现社区／乡镇医院先心病的早期发现治疗提供依据。方法①先心病的筛查：选取5个调查现场（上海市闵行区、江苏省昆山市、山东省宁阳县、重庆市涪陵区和北京市怀柔区）,由经过培训合格的儿科和儿童保健科医生对0～3岁儿童进行筛查。筛查指标包括先心病家族史、呼吸急促、紫绀、特殊面容、心脏杂音、经皮血氧饱和度和其他先天性畸形等7项,≥1项阳性者为筛查阳性。②先心病的诊断：由培训合格的儿科超声心动图医生对上述筛查中发现异常的儿童进行诊断。③先心病的评估：由儿科心血管专科医生对诊断为先心病的儿童进行评估。④先心病的信息化管理：建立社区／乡镇医院先心病儿童的网络信息化管理系统,将上述筛查、诊断和临床评估的数据进行网络化填报,实现远程数据管理。结果①先心病的筛查：2011年8月1日至2012年8月1日,共对63839名儿童进行了先心病的筛查（应答率96．9％）,筛查阳性者736名。②先心病的诊断：734／736名筛查阳性儿童接受了超声心动图检查,确诊为先心病278例（先心病发病率为4．4％0）,其中,室间隔缺损138例、房间隔缺损77例、动脉导管未闭36例、肺动脉狭窄8例、法洛四联症7例、肺动脉闭锁3例、房室间隔缺损3例、肺静脉异位引流2例、主动脉缩窄2例、单心室2例。（驴项和3项（心脏杂音＋紫绀＋经皮血氧饱和度）筛查指标检出先心病的敏感度均为95．68％,特异度分别为99．26％和99．32％,7项和3项筛查指标阳性预测值和阴性预测值均在同一水平;④先心病的评估：278例诊断为先心病的患儿均接受了评估,至研究结束122例患儿接受了外科手术,均恢复良好,其余患儿均纳入随访。结论在中国社区／乡镇医院建立先心病筛查一诊断一评估体系可以实现先心病的早期发现、早期诊断,并可及时进行干预。     

先天性心脏病的分子生物学研究

先天性心脏病的分子生物学研究谢进生（北京心肺血管疾病研究所－安贞医院心外科北京１０００２９）ＡｂｓｔｒａｃｔＦｏｒａｌｏｎｇｔｉｍｅ，ｉｔｈａｄｂｅｎｖｉｅｗｅｄｔｈａｔｍｏｓｔｃｏｎｇｅｎｉｔａｌｈｅａｒｔｄｉｓｅａｓｅｓ（ＣＨＤ）ａｒｅｃａｕｓｅ...     

The genetics of isolated congenital heart disease

The genetic mechanisms underlying congenital heart disease (CHD) are complex and remain incompletely understood. The majority of patients with CHD have an isolated heart defect without other organ system involvement, but the genetic basis of isolated CHD has been even more difficult to elucidate compared to syndromic CHD. Our understanding of the genetics of isolated CHD is advancing in large part due to advances in next generation sequencing, and the list of genes associated with CHD is rapidly expanding. Variants in hundreds of genes have been identified that may cause or contribute to CHD, but a genetic cause can still only be identified in about 20–30% of patients. Identifying a genetic cause for CHD can have an impact on clinical outcomes and prognosis and thus it is important for clinicians to understand when and what to test in patients with isolated CHD. This chapter reviews some of the known genetic mechanisms that contribute to isolated inherited and sporadic CHD as well as recommendations for evaluation and genetic testing in patients with isolated CHD.     

风湿性心脏病与成人先心病围手术期心肌酶变化的比较

目的通过对风湿性心脏病（RHD组）和成人先天胜心脏病（CHD组）患者围术期心肌酶的变化进行动态观察,探讨不同病种的手术对心肌损伤的影响。方法44例成人患者接受心内直视手术,其中RHD组24例患者接受二尖瓣置换术;CHD组20例患者为先天性房间隔缺损或室间隔缺损。手术前1d、术后1d,3d、5d和8d分别取静脉血,测定并比较两组患者血清门冬酸氨基转移酶（AST）、肌酸激酶（CK）及其同工酶MB（CK-MB）、乳酸脱氢酶（LDH）、α-羟丁酸脱氢酶（HBHD）的变化。结果两组患者术前5种心肌酶均在正常范围,术后1d分别升高到术前的2～11倍（P〈0．01）,术后3d均有不同程度的恢复,到术后8d,除两组的LDH和HBHD仍高于术前外,其它酶的释放量均已恢复到正常水平。术后心肌酶的释放量RHD组较CHD组为高（P〈0．05）。结论择期手术的RHD和CHD患者术前心肌酶的释放量在正常水平。术后两组心肌酶释放的高峰时间及心肌酶的恢复次序是一致的,术后RHD组患者心肌酶的释放量较CHD组患者高。     

The state of congenital heart disease

In this special issue of the American Journal of Medical Genetics Part C, we focus on the “State of Congenital Heart Disease.” We anticipate that after viewing this journal, the reader will be up‐to‐date on the epidemiology of congenital heart disease (CHD), the genetic basis of CHD, ethical concerns, and the global impact of CHD. And most importantly, we are confident that this special issue conveys the message that CHD is complex and that much work is still needed in genetic and genomic research.     

最优改进对数谱幅度估计与小波结合的心音降噪

小波阈值降噪为心音降噪的一种常用方法。本文提出了使用最优改进对数幅度谱估计与小波阈值降噪相结合的方法对心音降噪。在正常心音和一些常见疾病的心音中加入不同强度的白噪声和粉红噪声,构造不同信噪比的心音信号,并将本文所提出的方法和仅用小波阈值降噪方法的去噪效果进行了定量的对比。结果表明本文方法降噪效果总体优于仅使用小波阈值降噪达到的效果。     

Detailed mapping of a congenital heart disease gene in chromosome 3p25

Distal deletion of chromosome 3p25-pter (3p− syndrome) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, ptosis, and micrognathia. Congenital heart disease (CHD), typically atrioventricular septal defect (AVSD), occurs in about a third of patients. In total, approximately 25 cases of 3p− syndrome have been reported world wide. We previously analysed five cases and showed that (1) the 3p25-pter deletions were variable and (2) the presence of CHD correlated with the proximal extent of the deletion, mapping a CHD gene centromeric to D3S18. To define the molecular pathology of the 3p− syndrome further, we have now proceeded to analyse the deletion region in a total of 10 patients (five with CHD), using a combination of FISH analysis and polymorphic markers, for up to 21 loci from 3p25-p26. These additional investigations further supported the location of an AVSD locus within 3p25 and refined its localisation. Thus, the critical region was reduced to an interval between D3S1263 and D3S3594. Candidate 3p25 CHD genes, such as PMCA2 (ATP2B2), fibulin 2, TIMP4, and Sec13R, were shown to map outside the target interval. Additionally, the critical region for the phenotypic features of the 3p− phenotype was mapped to D3S1317 to D3S17 (19-21 cM). These findings will accelerate the identification of the 3p25 CHD susceptibility locus and facilitate investigations of the role of this locus in non-syndromic AVSDs, which are a common form of familial and isolated CHD.


Keywords: congenital heart disease; chromosome 3p25     

Genetic considerations for adults with congenital heart disease

Congenital heart disease (CHD) remains the most common birth defect, with an estimated incidence of approximately 1% of all births. The population of adults with CHD is growing rapidly with advances in medical care. Overall survival to adulthood in the current era estimated to exceed 90%. Genetic causes of CHD can be classified into several broad categories: (a) chromosomal aneuploidy, (b) large chromosomal deletion or duplication, (c) single gene mutation, and (d) copy number variation. However, only 20–30% of CHD cases have an established etiology characterized by either genetic abnormalities or environmental factors. The role of genetics in the field of adult CHD is only increasing. More adult patients with CHD are seeking genetic counseling to understand the etiology of their underlying CHD and the risks to future offspring. A multidisciplinary approach is essential to provide appropriate counseling to patients regarding indications for genetic testing and interpretations of results. Novel advances with precision medicine may soon enable clinicians to individualize therapies for a comprehensive approach to the care of adult patients with CHD.     

儿科先天性心脏病PBL教学法之应用探讨

目的 引导学生的主动思维,并与传统模式相结合,学生为主,教师为辅,以临床实际病例为引导进行课程学习,以了解PBL教学模式在医学实习中的意义.方法 制定小儿心脏科PBL教学目标,合理安排教学时间,将理论课与实习有机整合,课前布置预习任务,建立PBL学习小组,实施PBL教学并进行总结.结果 PBL是一种高效率的教学模式,可以增强学生学习的主动性并提高其分析问题和解决问题的能力.PBL教学在目前阶段是传统教学模式有益和必要的补充,具有积极的和肯定的作用.结论 本课题在儿童心脏病PBL教学方面获得了初步的教学经验,为儿科逐步广泛开展PBL教学奠定了良好的基础.     

Other genomic disorders and congenital heart disease

Congenital heart disease (CHD) is the common birth defect worldwide. Despite its recognized burden on public health, the etiology in the vast majority of individuals remains unknown. Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are increasingly responsible for CHD with variable penetrance. Single gene disorders, epigenetic alterations, and environmental etiologies are also significant contributors. Our understanding of the genetic basis of CHD has increased exponentially with the escalating use of next generation sequencing to identify ever so small submicroscopic genomic imbalances at the level of coding exons in CHD. This review focuses on genomic disorders other than 22q11.2 deletion, that are major players in the etiology of human cardiac malformations.     

The genetic workup for structural congenital heart disease

Congenital heart disease (CHD) is the most prevalent birth defect and is the result of multiple etiologies including genetic and environmental causes. This article reviews the genetic workup for structural CHD in the clinical setting, beginning with CHD epidemiology and etiology and then moving to genetic testing, clinical evaluation, and genetic counseling. An algorithm is presented as a guide to genetic test selection, and available tests are explained with their respective advantages and limitations. Finally, future advances are discussed. As this review focuses on structural heart disease, isolated cardiomyopathies, inherited primary arrhythmia syndromes and aortopathies are not discussed.