非体外循环小切口房间隔缺损封堵术的应用

目的 介绍及推广一种闭合房间隔缺损的小切口非体外循环手术方法.方法 2004年9月至2007年4月我院收治房间隔缺损患儿46例(男22例,女24例);年龄8个月～16岁,其中8个月～1岁共11例,1～5岁共18例,5岁以上17例,体重8.5～35 kg,房间隔缺损直径8～25 mm,均为继发孔中央型.全组均在全麻下经右胸壁第四肋间小切口入胸.通过食管超声术中监测各切面房间隔大小及边缘情况,选择相应大小封堵器并经右房置入封堵器,行推拉试验确认牢固后释放封堵器.结果 45例房间隔缺损患儿封堵成功,1例失败.房间隔缺损直径8～25mm,房间隔各边缘最短分别距二尖瓣瓣根部7 mm、距左房顶8 mm、距上腔静脉6 mm、距下腔静脉6 mm.术后房间隔水平无分流,无明显手术并发症.结论 经右胸小切口非体外循环下房间隔缺损封堵术损伤小、无辐射、操作简单、安全性高,具有临床应用价值.     

彩色多普勒对诊断房间隔缺损的价值

房间隔缺损 (ＡＳＤ)是常见的小儿先天性心脏病 ,在无食道超声的情况下 ,经胸探查法检测肺动脉内血流的彩色多普勒变化 ,对诊断ＡＳＤ有很大价值。我院 2 0 0 0年 12月～ 2 0 0 2年 12月采用彩色多普勒诊断ＡＳＤ 5 4例 ,现报告如下。临床资料本文 5 4例中男 2 2例 ,女 32例 ;年龄 4～ 12岁 ,平均 9.2岁。胸骨左缘第 3肋间闻及ＳＭⅢ / 6级 2 9例 ,ＳＭⅡ / 6级 16例 ,未闻及明显杂音 9例。采用Ａｓｐｅｎ心脏超声诊断仪 ,探头频率 3.0～ 7.0ＭＨｚ。取左室长轴 ,心尖四腔心、剑下四腔心、大动脉短轴等切面 ,着重观察通过房间隔血流、肺动脉…     

单纯性房间隔缺损患儿GATA4和GATA6基因突变筛查#br#

目的探讨GATA4和GATA6基因在单纯房间隔缺损(ASD)患儿中的突变情况。方法收集2012年11月至2013年11月就诊并拟行封堵术的101例单纯ASD患儿(99例非家族性患儿及一对双胞胎ASD患儿),同时以100例种族匹配并排除先天性心脏病、血液系统疾病及染色体异常儿童作为对照组,采集静脉血,应用PCR扩增GATA4和GATA6基因的全部编码区及其侧翼部分序列,采用双脱氧核苷链末端合成终止法对扩增片段进行测序,然后与Gen Bank中的基因编码序列进行比对。结果在ASD患儿中发现两个新的GATA6错义突变c.145 G>A和c.151 G>A,其均未在对照组中出现;这两个突变导致编码区第49位的甘氨酸和第51位的谷氨酸分别变为丝氨酸和赖氨酸。在9例ASD患儿和7例对照组儿童中发现一个GATA6突变c.43 G>C,引起第15位的甘氨酸变为精氨酸。此外在GATA4编码区中发现一个不引起氨基酸改变的单核苷酸多态性变化,即c.99G>T。结论 GATA6基因作为心脏发育过程中重要的转录因子,其点突变可能引起GATA6蛋白功能的改变并造成其转录活性的变化,从而导致单纯ASD的发生。     

房间隔缺损患儿NKX2-5基因突变的研究

目的 本研究旨在识别先天性房间隔缺损(atrial septal defect,ASD)患者的分子遗传缺陷,为其早期防治奠定基础.方法 收集180例特发性ASD患者(其中12例有阳性ASD家族史)的临床资料和血标本,以200名健康者为对照.应用聚合酶链反应扩增NKX2-5基因的全部外显子和外显子两侧的部分内含子,采用双脱氧核苷链末端合成终止法对全部扩增片段进行测序.借助BLAST程序将所测序列与GenBank中的已知序列进行比对以识别基因突变,并用ClustalW软件分析突变氨基酸的保守性.结果 在1例家族史阳性的ASD患者的NKX2-5基因识别出一个新的杂合突变,即编码核苷酸序列第536位的胞嘧啶变为胸腺嘧啶,导致第179位的丝氨酸变为苯丙氨酸.该突变也存在于这个家系中的另外3位患病成员,但不存在于这一家系中的健康成员和200名正常对照者,多物种NKX2-5基因编码氨基酸序列比对显示突变氨基酸在进化上高度保守.此外,还发现了一个常见的单核苷酸多态,即编码核苷酸序列第63位的腺嘌呤变为鸟嘌呤,但这种多态在ASD患者和健康对照者间的频率分布差异无统计学意义(χ~2=2.8641,P=0.0906).结论 NKX2-5基因突变能够导致家族性ASD.     

房间隔缺损伴脊柱骨骺发育不良1例

房间隔缺损是一种常见的先天性心脏病,但临床合并脊柱骨骺发育不良（spondylo-epiphyseal dysplasia,SED）的病例尚无报道,本院近期诊治1例,现介绍如下：     

危重先天性心脏病患儿急诊和亚急诊的围术期处理

危重先天性心脏病患儿常出现反复呼吸道感染、呼吸衰竭和心力衰竭 ,若不及时手术 ,很快失去治疗时机以致死亡。我院 1995年 1月～ 2 0 0 3年 1月共对 76例危重先天性心脏病患儿实施急诊或亚急诊手术治疗 ,现报告如下。资料与方法一、一般资料　本组 76例 ,男 4 7例 ,女 2 9例 ;年龄 6个月～ 6岁 ,其中 6个月～ 1岁 8例 ,～ 2岁 17例 ,～ 3岁 2 3例 ,>3岁 2 8例。室间隔缺损 4 0例 ,法洛四联症 10例 ,动脉导管未闭 8例 ,房间隔缺损 7例 ,重度肺动脉瓣狭窄、三房心、法洛三联症、完全性肺静脉畸形回流各 2例 ,艾伯斯坦畸形、右室双出口、主动…     

先天性心脏病并肺动脉高压患儿血浆一氧化氮和硫化氢的变化

目的研究先天性心脏病(CHD)并肺动脉高压(PH)患者血浆一氧化氮(NO)和硫化氢(H2S)的变化及其与PH相关性,探论PH的形成机制,为临床有效治疗PH提供新的思路和理论依据。方法对全部研究对象行彩色超声心动图检查,明确CHD类型并测定肺动脉收缩压。按彩色超声心动图结果分为4组。正常儿童25例,CHD 75例,其中无PH 25例,轻度PH 25例,中、重度肺PH 25例。取CHD组术前静脉血4 mL,迅速分离血浆,采用分光光度法测定血浆NO水平,采用敏感硫电极法测定H2S水平。结果CHD患儿血浆NO水平明显高于对照组,但血浆NO水平增加到一定程度后不再随肺动脉收缩压增加而增加,肺动脉收缩压与血浆NO水平无相关性。CHD并中重度PH组血浆H2S水平明显低于CHD并轻度CHD组,CHD并轻度PH组血浆H2S水平明显低于对照组,肺动脉收缩压与血浆H2S水平呈负相关。结论CHD致PH形成时NO水平升高,代偿性内源性NO上调可能对缓解PH起一定作用。CHD致PH形成时H2S明显降低,内源性H2S下调可能在PH形成中起重要的作用。     

室间隔缺损合并肺动脉高压肺血管床功能状诚评估指标的研究

探讨室间隔缺损合并肺动脉高压肺血和功能状态的评估指标。方法 对室间隔缺损合并重度肺动脉高压的患儿，于心导管术中应用酚妥拉明，将轻工全肺循环阻力增加的２７例与重度全肺循环阻力增加的１２例患儿的试验结果进行比较。结果 两组患儿的单一肺动脉压降幅分别为２．３ｋＰａ和２．２ｋｐＡ，Ｐ〉０．０５差异无显著性意义；     

镶嵌技术在房间隔缺损治疗中的应用进展

先天性心脏病（Congenital heart defect,CHD）是常见出生缺陷,发病率约7％o,以房间隔缺损（ASD）最常见,约占全部先心病的10％～15％,男女发病率之比为1：2～1：4,其中75％为卵圆孔型。     

Flow Velocity Patterns across Atrial Septal Defects Recorded with Doppler Echocardiography

ABSTRACT. During a two-year period pulsed Doppler combined with two-dimensional echocardiography was used in evaluating patients for atrial septal defects. Blood flow velocities were recorded with pulsed Doppler in the right atrium along the atrial septum, across the atrioventricular and semilunar valves and when a shunt was detected also on the left side of the phial septum. The typical flow velocity pattern most often seen is described and is related to the differences in pressure between the two atria during the cardiac cycle. Deviations from this velocity pattern are described and their hemodynamic significances discussed. Diagnosis and assessment of pulmonary hypertension from tricuspid and pulmonary flow velocities are described.     

Community Use of the Amplatzer Atrial Septal Defect Occluder: Results of the Multicenter MAGIC Atrial Septal Defect Study

The objective of this study was to determine the initial safety and results of unrestricted multi-institution routine community use of the Amplatzer Septal Occluder (ASO) for atrial septal defect (ASD) closure. A multicenter, nonrandomized prospective study was performed in 13 pediatric cardiology centers from November 2004 to September 2007. Data were collected at the time of cardiac catheterization and 1 day postimplant. Four hundred seventy-eight patients underwent cardiac catheterization for ASO device closure of an ASD. The median age was 6 years (range, <1–83 years), and the mean weight was 37.2 kg (range, 2.6–148 kg). Procedural success was 96% (458/478 patients), with deficient rims being the major single reason for failed implantation (9/20). Major and minor complication rates were 1.1% and 4.8%, respectively, and were not different between simple and complex ASD groups. Success at 24 h was 99.4% (333/335) in the simple ASD group and 100% (120/120) in the complex ASD group. The presence of large defects, the presence of multiple defects, the use of multiple devices, and a weight <8 kg were significantly associated with a residual shunt (small to moderate) at 24 h. In conclusion, the ASO device in routine clinical practice for simple and complex ASD closure has an immediate safety and effectiveness profile equal to that reported in the initial pivotal FDA trial for simple ASDs. Based on the evolution in care posed by the ASO and the lack of consensus on patient selection in complex ASDs, this study points out the need to redefine the optimal patient and possibly broaden the indications for device closure of ASDs.     

小儿膜周部室间隔缺损介入治疗的临床疗效

目的观察小儿膜周部VSD介入治疗的疗效、对心律的影响及封堵前后左心血流动力学指标变化。方法收集2006年8月-2009年12月本科44例接受介入治疗的膜周部VSD患儿。男17例,女27例;年龄2.4～13.0(5.20±2.68)岁。其中37例选用对称型封堵器,7例选用偏心型封堵器,经造影和经胸超声心动图证实封堵器位置良好,无成束残余分流,主动脉瓣和三尖瓣功能不受影响,即为封堵成功。术前,术后3 d、1个月、3个月、6个月、12个月检查其ECG及经胸超声心动图检测左心室舒张末期内径(LVDD)、左心室收缩末期内径(LVDS)、射血分数(EF)和左心室缩短分数(FS)。结果 43例封堵成功,成功率为97.7%。其中2例有不成束残余分流,分别于术后3 d和术后1个月时消失。术后新出现不完全右束支传导阻滞4例,1例12个月时转为完全性右束支传导阻滞,1例随访中不完全右束支传导阻滞消失,无高度房室传导阻滞发生。与术前相比,LVDD和LVDS在术后3 d和术后1个月时明显缩小(P<0.01,0.05),术后12个月时虽短于术前,但差异无统计学意义,EF和FS术前术后无显著变化。结论小儿膜周部VSD介入治疗是一种安全有效的方法。     

Sudden Death Due to Ventricular Septal Defect

Ventricular septal defects (VSD) are usually considered non-life-threatening, usually closing spontaneously or causing symptoms of congestive heart failure, which can be surgically treated in time to save the patient's life. Despite the usually benign clinical course of VSD, serious arrhythmias occur in 16–31% of patients. Sudden death accounted for one-third of all deaths in a series of medically managed patients and occurred in 4.2% of patients in a study of VSD and arrhythmias. Cardiac hypertrophy is the common denominator in all cases reported in detail of VSD-associated sudden death. We have encountered four cases of sudden unexpected death from VSD in infants ranging in age from 1 week to 3 and ½ months. In each case there was cardiomegaly and in one case there was pulmonary arteriolar medial thickening, with extension of smooth muscle into small intralobular vessels. In half of our cases the attending physician was sued for malpractice. We believe that VSD in infants and young children are potentially life-threatening malformations which warrant careful clinical follow-up.     

经食管超声心动图对儿童室间隔缺损的围术期评价

目的探讨运用经食管超声心动图(TEE)对儿童室间隔缺损(VSD)进行围术期的作用。方法 VSD患儿205例,年龄3个月～17岁(平均3.4岁),术前均由经胸超声心动图(TTE)作出诊断。体外循环前后分别行TEE探查,比较TFE及TTE 变化。结果 1．术前TEE和TTE对VSD位置的诊断准确率分别为99.0％和97．6％,膜部瘤检出率分别为93．8％和43．8％, VSD直径测量与手术探查结果相关系数分别为0．958和0．898;2．术后TFE发现残余分流38例(18．5％),其中9例(4.4％)立即再次修补。结论术前TEE可准确诊断VSD;术后TEE可发现残余分流,立即干预,以免再次开胸。     

Atrial Septal Defect: Spectrum of Care

Atrial septal defect (ASD) is a common congenital heart defect. Variability in management of this lesion exists among clinicians. A review of the literature reveals that there is lack of standard guidelines for the evaluation and management of patients with different types of ASDs. This survey-based study was conducted to test the uniformity of diagnostic and therapeutic approach to management of children with secundum, sinus venosus, and primum ASDs. Survey questionnaires were prepared to include questions regarding follow-up, diagnosis, and therapeutic intervention of different types and sizes of ASDs. Questions addressed follow-up visitations, type and frequency of investigative studies, pharmacological therapy, and choice of repair method. Surveys were sent out to all pediatric cardiology academic programs in the United States (n=48) and randomly selected international programs from Europe, Asia, and Australia (n=19). A total of 23 programs (34%) responded to the survey (15 from the United States and 8 internationally). A separate questionnaire was prepared for secundum, primum, and sinus venosus ASD. In each questionnaire, lesion types were subdivided into small, moderate, and large defect sizes to address differences of management approaches to each defect type and size. Results indicate that in secundum ASD, most participants use size of the defect and/or evidence of right-sided volume overload as criteria for defining small, moderate, and large defects. Frequency of follow-up does not vary with the type of lesion but is more frequent with larger defects. Most participants see patients with small defects at intervals of 6 months to 1 year and those with large defects at 3- to 6-month intervals. Age of patient and presence of symptoms determined the frequency of follow-up across all defects. Echocardiography was the most frequently used investigative modality in all defect sizes and types during follow-up visits (used by >80% for follow-up), followed by electrocardiography (ECG). There is a striking preference for the use of pharmacological therapy in primum ASD compared with secundum and sinus venosus ASD. The timing of repair was mainly dependent on patient age and symptomatology in different defects, with the presence of associated anomalies contributing to that in primum and sinus venosus ASD. Most participants use percutaneous approach to close secundum ASD (either as a first choice or as one of two choices depending on the presence of certain features). Before repair, participants use MRI or cardiac catheterization to fully evaluate a secundum ASD if it is large. These investigative modalities are not commonly used in primum and sinus venosus ASD. There is agreement on postoperative follow-up in different types of defects, with most participants continuing follow-up indefinitely, especially in larger defects.     

主动脉瓣成形术治疗室间隔缺损并中重度主动脉瓣关闭不全

目的探讨室间隔缺损(VSD)并中重度主动脉瓣关闭不全(AI)患儿行主动脉瓣成形术的疗效。方法分析13例14岁以下VSD并中重度AI患儿行主动脉瓣成形术的临床资料。其中VSD为干下型9例,膜周部型4例;中度AI 4例,重度AI 9例。结果全组均无手术死亡。出院查体脉压差均恢复正常。术后彩色多普勒超声心动图检查平均左心室舒张末径与术前比较明显缩小(P<0.05),未发现有室间隔残余漏,2例有轻度AI。随访无手术死亡,患儿心功能均为纽约心脏协会(NYHA)Ⅰ或Ⅱ级。结论儿童主动脉瓣成形术效果良好,对于VSD并中重度AI患儿应首选主动脉瓣成形术。     

内皮素-1和von Willebrand因子在室间隔缺损并肺动脉高压患儿肺血管的表达及意义

目的观察室间隔缺损（VSD）并肺动脉高压（PH）患儿内皮素-1（ET-1）与von Willebrand因子（vWF）在肺血管内膜表达的差异，探讨两者在PH发生发展及肺血管重建中的作用。方法VSD无PH患儿10例为对照组；VSD并PH患儿20例为PH组（PH组），根据肺动脉平均压分为中度PH组（Ⅰ组）和重度PH组（Ⅱ组）。取右肺中叶肺组织，免疫组织化学染色，测光密度值。结果肺小动脉vWF、ET-1表达在对照组与PH组、对照组与Ⅰ组、对照组与Ⅱ组、Ⅰ组与Ⅱ组之间，均有显著性差异（P均〈0．01）；而肺小静脉vwF、ET-1表达均无统计学差异（P〉0．05）。同组别肺小动脉与肺小静脉vwF、ET-1表达有显著性差异（P均〈0．01）。ET-1、vWF、肺动脉平均压、VSD直径与主动脉直径之比四者间相互呈正相关（P〈0．01，0．05）。结论ET-1及vWF与PH的发生发展、肺血管重建有关。肺组织中ET-1的主要来源可能是肺小动脉。     

Glucose Metabolism and Insulin Secretion in Infants with Symptomatic Ventricular Septal Defect

ABSTRACT. Nineteen infants with symptomatic ventricular septal defect (VSD) were examined on, altogether, 26 occasions, when each was given an intravenous glucose tolerance test (IVGTT); concentrations of insulin- and C-peptide in plasma were determined. Comparisons were made with 14 healthy infants of the same age. The VSD infants were growth retarded with lower weight/age and length/age ratios. Glucose tolerance as indicated by glucose fasting levels and response to intravenous glucose tolerance test, including glucose disappearance rate, did not differ between the two groups. In response to the glucose load, insulin in plasma was significantly less in VSD infants. In response to the IVGTT, insulin secretion rate calculated from C-peptide levels in plasma was significantly elevated in the VSD group. We conclude that compared to healthy infants, those with symptomatic VSD have normal glucose tolerance, increased secretion rate of insulin, but decreased levels of circulating insulin in response to an intravenous glucose load. We suggest this is so because binding of insulin to peripheral receptors and/or insulin extraction in the liver somehow increases.     

室间隔缺损介入治疗中封堵器的选择

目的探讨介入治疗儿童室间隔缺损(VSD)时不同类型国产封堵器的选择方法及介入治疗VSD的可行性、安全性和疗效。方法介入治疗VSD患儿226例。年龄2~14岁(5.62岁);其中膜部VSD209例,嵴内型VSD14例,肌部VSD3例。封堵后再次行经胸超声心动图及左室造影,出院前及术后1、6和12个月复查心电图和超声心动图进行随访。结果211例患者封堵成功,技术成功率93.4%。其中7例应用小腰大边型VSD膜部封堵器,191例应用对称型VSD膜部封堵器,12例应用偏心型VSD膜部封堵器,另1例应用肌部VSD封堵器封堵成功。术中术后无严重并发症发生。结论应用不同类型国产封堵器介入治疗儿童VSD安全有效。根据VSD类型及形态特征合理选择不同类型封堵器十分关键,一般对称型封堵器适用于大多数VSD且易于放置到位,在某些情况下其他形态封堵器是必要的。