先天性心脏病的有关病因

先天性心脏病(Congenital heart disease,CHD)是婴幼儿期常见的先天畸形,也是导致新生儿死亡的主要原因之一。1968年Nora提出CHD是一种多因子遗传病,在CHD的病人中,其发病8％以遗传因素为主,2％以环境因素为主,其余的90％为遗传和环境的共同作用所致。因此,开展CHD的流行病学研究,寻找与CHD发生可能有关的病因,对预防和减少CHD患儿的出生具有重要意义。本文仅就近年来提出的一些致CHD的病因做一综述。一、病毒感染 1、风疹病毒:母亲孕初三月内感染风疹病毒新生的婴儿常有白内障、耳聋和CHD,早在1942年澳大利亚眼科医生Gregg     

唐氏综合征发生原因的循证医学研究

目的:通过系统性综述(systematic review)的方法,分析我国唐氏综合征发生的原因。方法:通过检索国内外文献数据库,收集符合标准、证据等级较高的文献进行研究。结果:共纳入唐氏综合征病因文献25篇,其中3篇为系统性综述,其余为病例对照研究和横断面研究。现有研究结果未能揭示唐氏综合征明确的发病原因,仅提示发病可能与遗传和环境因素有关。就遗传因素而言,目前关注较多的是MTHFR C667T,MTHFR A1298C,MTRR A66G基因多态性,但缺乏足够证据证实其致病效应。相关文献对环境因素的研究主要集中在孕母年龄,烟酒及接触有毒有害物质等方面,但也未发现较高证据强度的阳性结果。结论:唐氏综合征病因复杂,很多情况下既不是单一因素作用的结果,也不是单因素作用简单叠加的结果,而是多个危险因素相互作用的综合结果。进行唐氏综合征病因学循证研究,开展病因学预防,将为提高人口素质,降低唐氏综合征的发生作出贡献。     

120例新生儿先天性心脏病随访

为了更好地了解新生儿先天性心脏病的类型、病因及自然转归情况 ,我们对 12 0名先天性心血管畸形的新生儿跟踪随访 ,现报告如下。对象与方法对象为 1994～ 1995年间在我院住院的患有先天性心血管畸形的新生儿 12 0名 ,其中男 5 7名 ,女 6 3名。 5年随访率为 10 0 %。通过询问病     

循证护理应用于先天性心脏病修补手术围术期效果观察

目的探究循证护理应用于先天性心脏病修补手术围术期效果。方法对照组予以常规临床护理,观察组在予以循证护理,观察对比两组住院时间、心功能改善情况及术后总并发症发生情况。结果观察组住院时间为(7.4±1.3)d,明显短于对照组的(13.4±1.5)d,P﹤0.05;观察组心功能Ⅰ级率为75.0%,明显高于对照组的43.8%,P﹤0.05。观察组总并发症率为12.5%,明显低于对照组的35.9%,组间比较差异有统计学意义,P﹤0.05。结论对先天性心脏病修补术围术期患者开展循证护理有利提高护理质量,保障手术预后,降低术后并发症。     

先天性心脏病的病因分析与再生育原则

<正> 问:先天性心脏病在病残儿医学鉴定中屡见不鲜,其病因非常复杂,对再生育原则的掌握,深感棘手,请专家信箱栏目给予指导。 刘高金副主任医师: 先天性心脏病(先心病)是胎儿时期心脏血管发育异常而导致的畸形疾病。据统计,国内先心病发生率为7‰～8‰,估计我国每年有10余万先心病患儿出生,先心病严重威胁患儿的身心健康,给社会和家庭带来沉重负担,所以进一步分析先心病的原因,采取相应措施,减少患儿出生,是提高我国人口素质的一项重要任务。     

小儿先天性心脏病300例临床分析

目的探讨小儿先天性心脏病发病因素,为预防及早期诊疗提供依据。方法对我科于2005～2010年住院的300例经彩色多谱勒超声心动图确诊的先天性心脏病患儿临床资料进行回顾性分析。结果母孕期环境和遗传等高危因素对先天性心脏病发生影响明显,患先天性心脏病的危险性高。结论彩色多谱勒超声心动图对早期筛查诊断有很大优势,先天性心脏病因素是多因素综合作用的结果,避免不良因素的影响对减少先天性心脏病的发病率具有重要意义。内外科互补治疗为主要治疗方法。     

儿童单纯性先天性心脏病之危险因素及作用方式的探讨

不伴有其他器官畸形的单纯性先天性心脏病（简称先心病）为多基因遗传病，其环境因素目前尚不明了，病因与先天性心脏病间作用方式更未见报道。本研究采用１：１配比病例－对照研究，对１６８对儿童之父母孕前和孕期多方面因素进行了调查。经单因素分析从５５个变量中筛选出１９个可疑危险因素。后经条件Ｌｏｇｉｓｔｉｃ回归分析从１９个变量中筛选出８个危险因素（ａ＝０．０５）．并对此８个危险因素进行通径分析以探讨各因素与先天性心脏病之间的作用方式。     

先天性心脏病的产前诊断

先心病是儿童的常见先天性畸形，对其生长发育造成严重影响。本文就常见的先心病超声前前检查要点及各种先心病产前诊断的特点作了简要介绍。     

婴儿先天性心脏病危险因素病例对照研究

目的探讨婴儿先天性心脏病(CHD)发生的危险因素。方法利用彩色超声技术对婴儿进行心脏彩超筛查,按照1:2配比进行病例对照研究,采用自编调查问卷对146例先天性心脏病婴儿(病例组)和292名正常婴儿(对照组)家长进行调查,采用卡方检验和Logistic回归模型分析婴儿先天性心脏病相关危险因素。结果多因素Logistic回归分析结果表明父母亲文化程度、职业、家庭经济收入、噪声污染、母亲被动吸烟、孕期有毒有害物质接触为影响婴儿CHD发生的主要影响因素,其中父母文化程度较低、家庭经济水平较低、母亲孕期受噪声污染、母亲孕期被动吸烟及接触有毒有害物质是婴儿CHD发生的危险因素。结论婴儿先天性心脏病的发生受多种因素的影响,一方面应加强育龄妇女及其家庭成员相关知识的健康教育,另一方面应对婴儿进行早期先天性心脏病的筛查,提高诊断水平,降低儿童CHD的发生。     

Risk factors in congenital heart disease

Risk factors were studied in 801 children with congenital heart disease (CHD) coming from 105,374 consecutive births of known outcome. The incidence of CHD was 7.60 %o. Diagnosis was performed in 66.5% of the cases during the perinatal period. Two-hundred-fifty seven of the cases also had at least one non-cardiac malformation (multiply malformed). Ninety-two cardiac infants (11.47%) had recognized chromosomal and non-chromosomal syndromes. The most frequent non-cardiac malformations were renal, digestive and limb anomalies. For each case a control was studied. The following features were screened: sex ratio, parity and previous pregnancies, parental age, residency, education, ethnic origin, lenght, head circumference and weight at birth, genetic and environmental factors. Odds ratio values were calculated for the risk factors.Weight, length and head circumference at birth of cardiac infants were less than those of controls. The weight of placenta was also lower than in controls. The pregnancy with CHD was more often complicated by hydramnios and threatened abortions, except in infants with isolated CHD. Oliogoamnios was more frequent in pregnancies producing multiply malformed infants and those with recognized syndromes with CHD. One out of four children with CHD had an extracardiac malformation, which is ten times the rate of incidence of malformation in our population.The incidence of CHD in first degree relatives of these infants was 3.0%. These first degree relatives also had more non-cardiac malformations than did those of the controls.Corresponding author.     

新生儿先天性心脏病的早期诊断及干预

目的提高先心病患儿的生活质量,探索先心病的早期诊断及干预措施。方法对1996年1月至2006年4月在深圳市第七人民医院儿科住院临床疑诊新生儿先天性心脏病患儿42例,全部经彩色多普勒超声心动图检查（部分手术）诊断,早期干预,出院后定期随访。结果42例新生儿先心病中,男22例,女20例。胎龄〈37W5例,37—42W37例。出生体重〈2．5kg6例,2．5—4kg35例,〉4kg1例。入院原因有紫绀26例,咳嗽12例,黄疸7例,窒息5例,气促4例,喂养困难3例,呕吐3例。临床表现中心脏杂音37例,占88％;紫绀26例,占62％;呼吸急促14例,占33％;呼吸暂停1例,占2％;窒息5例,占12％;心衰3例,占5％。先心病类型中非青紫型35例,占83．33％;青紫型37例,占16．67％。结论新生儿先心病部分无症状,病情观察很重要,心脏杂音、紫绀、气促、心衰是早期症状。彩色多普勒超声心动图能早期确诊及判断预后;部分先心病有自然闭合的可能;新生儿科医师不仅要早期诊断先心病,尤其是复杂性青紫型先心病,而且要及时处理合并症及帮助家长选择正确手术时机;依赖动脉导管开放而存活的完全性大动脉错位患儿禁止吸氧。     

Trends in presentation of congenital heart disease in a population-based study in Malta

Differing pathological haemodynamics in cardiac malformations lead to varying modes and timings of presentation. This study identifies historical trends in presentation of congenital heart disease in a population-based study. All patients diagnosed as having congenital heart disease in Malta between 1960–1994 were included (n = 868). Analysis was carried out on trends in referral sources, modes of presentation and birth prevalence. The number of patients diagnosed with congenital heart disease increased over the period under study. For both patients not requiring intervention (n = 283) and those requiring intervention (n=585), the proportion diagnosed prior to hospital discharge increased (p 0.005). There was a decreasing trend for general practitioners to refer cases (p < 0.0001), and an increasing trend for paediatricians to refer such patients (p 0.0003). The commonest presentation to the general practitioner was an incidental finding (92%), while paediatricians referred more patients for cyanosis or heart failure (p 0.005). For lesions not requiring intervention, the commonest lesion referred was ventricular septal defect from all sources. For lesions requiring intervention, the commonest lesion detected prior to hospital discharge was tetralogy of Fallot. Atrial septal defects were the commonest lesions detected after discharge by both paediatricians and general practitioners. An increase in the proportion of hospital diagnoses is attributed to increasing rate of hospital delivery, and greater training and experience in doctors performing neonatal examinations prior to discharge. Patients diagnosed after discharge are increasingly diagnosed by paediatricians due to an increasing pool of paediatricians and better parent awareness and education.     

2006～2010年广西围产儿先天性心脏病的监测情况

目的:了解2006～2010年广西出生缺陷医院监测网的围产儿先天性心脏病(CHD)变化趋势及影响因素,为政府制定干预措施提供依据。方法:对2006～2010年广西41所出生缺陷医院监测的围产儿CHD资料进行流行病学分析。结果:2006～2010年发现CHD围产儿994例,总发生率为26.44/万,年度发生率呈逐年上升趋势(χ2=30.192,P=0.00)。城镇与乡村围产儿CHD发生率比较差异有统计学意义(χ2=128.572,P=0.000);不同年份围产儿CHD转归的构成比差异有统计学意义。不同性别围产儿CHD发生率比较差异无统计学意义,男婴围产儿CHD的年度发生率呈逐年上升趋势(χ2=28.459,P=0.000);不同孕母年龄组比较差异有统计学意义(χ2=42.06,P=0.000),≥35岁孕母的围产儿CHD发生率最高,达36.71/万。结论:2006～2010年广西围产儿CHD发生率连续3年一直位居出生缺陷的首位。应通过加强健康教育,重点宣传出生缺陷防治的三道防线,提高孕妇自我保健意识,提高B超医师的诊断能力与诊断水平,早期发现、早期干预,减少出生缺陷发生率,建立CHD的跟踪随访管理机制,以提高CHD患儿的生存质量,降低患儿死亡率。     

神经管缺陷发生原因的循证医学研究

目的:通过系统性综述的方法,分析神经管缺陷(NTDs)的病因。方法:检索国内外文献数据库,检索时间从建库～2009年12月,纳入神经管缺陷病因学的系统性综述/Meta分析和随机对照试验,中文文献研究设计等级为病例-对照研究。结果:共纳入系统性综述/Meta分析9篇,随机对照试验2篇,病例-对照研究7篇。现有证据显示,遗传方面,MTHFR基因677位点TT基因型是非拉丁裔欧洲人群子代NTDs发生的危险因素;与HCY(同型半胱氨酸)代谢途径有关的酶或基因突变可引起NTDs发生概率增加,具有家族史及NTDs生产史其子代NTDs发病率较高。环境暴露方面,孕妇高热、父亲接触有机溶剂和使用抗癫痫药物(卡马西平和丙戊酸)是NTDs发生的危险因素,现有证据不支持紫外线照射和使用克罗米酚柠檬酸盐影响子代NTDs的发病风险的假设。生活行为方面,孕妇超重或肥胖、多次孕产史是NTDs发生的危险因素,使用IVF辅助生殖技术对NTDs发病的影响仍存在争议。结论:NTDs病因复杂,具有较高证据等级的病因学研究不多,病因仍有待探索。目前在孕早期补充叶酸是被广泛推荐使用的有效干预措施。     

Maternal smoking and congenital heart defects

The Swedish Child Cardiology Registry (CCR) and the Swedish Medical Birth Registry (MBR) were used to investigate a possible association between maternal smoking during pregnancy and congenital heart defects. Among 1,413,811 infants born in 1983–1996 with known smoking exposure in early pregnancy, 3384 infants with congenital heart defects were selected (458 term infants with persistent ductus arteriosus (PDA) identified from MBR or CCR, and 2926 infants with other heart defects, identified from CCR). After controlling for year of birth, maternal age, parity, and educational level, a weak, statistically significant association between all heart defects and maternal smoking was found (odds ratio (OR): 1.09; 95% confidence interval (CI): 1.01–1.19). When infants with isolated PDA were removed from the case group the significance disappeared (OR: 1.07; 95% CI: 0.98–1.17). For truncus abnormalities (OR: 1.23; 95% CI: 1.02–1.49), atrial septal defects (OR: 1.63; 95% CI: 1.04–2.57), and PDA (OR: 1.30; 95% CI: 1.05–1.62), a rather strong effect of maternal smoking was indicated. The increased OR for PDA remained when gestational duration and intrauterine growth was also controlled for. Further research based on independent data sets is needed to conclude whether the risk estimates for maternal smoking are true and truly differ between the groups. The classification system used (with 24 classes) is described in enough detail to permit a repetition of the study.     

新生儿产科留观期先天性心脏病的诊断

目的探讨新生儿生后在产科留观期间先天性心脏病(CHD)的诊断。方法在产科出院前诊断CHD的患儿为诊断组,共有31例,正常婴儿出院后、因各种疾病在新生儿病房再入院后诊断CHD的患儿为未诊断组,共有25例。比较分析2组的临床资料。结果新生儿CHD以房间隔缺损和(或)室间隔缺损最为多见,占82．1％(46／56)。未诊断组产科住院时间(35．6±25．4)h,显著短于诊断组(73．9±43．7)h,差异有显著性(t =4．105,P<0．05)。诊断组CHD诊断的最高峰期为生后49～72 h,而未诊断组84．0％(21／ 25)新生儿在生后48 h内已经出院。未诊断组有3例伴有心外畸形而未做心脏彩超检查,4例曾做胎儿心脏超声,提示正常。未诊断组再人院后4例发生心力衰竭或合并肺部感染,家长放弃治疗后死亡。结论在产科观察期间,部分新生儿CHD、甚至是严重CHD难以早期诊断。产科观察时间过短,可能与新生儿CHD难以及时诊断有关。此外,还需探索其它方法如经皮氧饱和度的筛查,以助早期诊断严重CHD并改善新生儿CHD的预后。     

胎儿先天性心脏病的产前诊断

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2006～2008年间分娩的活产儿、死胎、死产和治疗性引产儿,进行先心病相关因素分析。结果:3年间共分娩38282例,发现先心病193例,35岁以上高龄孕妇胎儿先心病发生率明显增加。经过系统产检者诊断孕周为(26.86±5.32)周,较未系统产检者明显提前。合并胎儿发育受限、单脐动脉、染色体异常、其他器官发育异常者胎儿先心病发生率也较其他组明显增加。结论:孕前宣教先心病知识,孕期系统产检,特别对有高危因素的孕妇加强监测,必要时行胎儿超声心动图检查,做到早期筛查、诊断及干预,以减少先心病的发生及其不良预后,提高人口素质。     

28772例先天性心脏病超声心动图诊断分析

先天性心脏病(CHD)是婴幼儿中最常见的先天性畸形之一.本研究分析超声心动图检查诊断CHD病例的病种及首次检出年龄的构成比,了解其变化趋势,为CHD早期干预及诊治提供科学依据.1.对象与方法:2003年1月至2008年12月在浙江大学医学院附属儿童医院(浙医儿院)行超声心动图检查诊断为CHD病例28 772例(男15 069例,女13 703例),年龄1日龄至18岁(M=8月龄).