Totally anomalous pulmonary venous connection and complex congenital heart disease: prenatal echocardiographic diagnosis and prognosis.

OBJECTIVE: The purpose of this study was to determine the accuracy of prenatal cardiac diagnosis, prognosis, and outcome of totally anomalous pulmonary venous connection (TAPVC) and to determine echocardiographic clues in the prenatal diagnosis of isolated TAPVC or TAPVC in association with other complex congenital heart disease (CHD). METHODS: We reviewed our 13-year experience of prenatal diagnosis of TAPVC. Thirteen fetuses were identified with the diagnoses of TAPVC. We systematically analyzed the individual pulmonary veins by color and pulsed Doppler imaging, the presence of a pulmonary venous confluence, the pulsed and color Doppler evaluation of the vertical vein, and sites of connections. Prenatal diagnosis was confirmed by postnatal echocardiography, cardiac catheterization, surgery, or autopsy. RESULTS: The mean gestational age at diagnosis of TAPVC was 26.3 weeks (range, 20-33 weeks). There were 8 fetuses with TAPVC and right isomerism, 3 fetuses with other associated CHD, and 2 with isolated TAPVC. There were 7 fetuses with supracardiac TAPVC, 4 with infracardiac TAPVC, and 2 with mixed TAPVC. Pulmonary vein color and pulsed Doppler data were available in 10 of 13 fetuses. The pulmonary venous confluence was visualized in all fetuses except 1. The vertical vein was visualized in all fetuses. Five fetuses had suspected signs of obstruction. The diagnosis was confirmed postnatally or at autopsy in 12 cases. Eight patients underwent surgery; 6 died, and 2 were alive. Two patients had compassionate care and died; 3 pregnancies were terminated. CONCLUSIONS: It is possible to diagnose accurately complex CHD, including the pulmonary venous connections. When diagnosed prenatally, TAPVC carries a poor prognosis.     

胎儿超声心动图在产前诊断完全型肺静脉异位引流中的应用

目的探讨完全型肺静脉异位引流（TAPVC）胎儿超声心动图特征及产前诊断临床意义。方法对2010年1月至2013年1月在南京医科大学附属苏州医院超声中心经产前及产后超声心动图或引产后尸检确诊的13例TAPVC胎儿超声心动图特征及产前诊断的临床意义进行总结分析。结果产前超声诊断12例TAPVC,其中心上型7例,心下型3例,心内型2例。超声表现为：胎儿左心稍小于右心,卵圆孔较大,心房水平右向左分流丰富,左心房与降主动脉距离增宽,左心房顶部光滑,无肺静脉开口,其后方可见共同肺静脉干,追踪共同肺静脉干走行可显示引流部位,相应引流部位血管内径扩张。产前超声漏诊1例,经产后超声心动图确诊为心内型TAPVC。13例TAPVC胎儿中3例为单发畸形（3/13）,10例合并其他心内或心外畸形（10/13）。结论 TAPVC有特征性胎儿超声心动图表现,胎儿超声心动图是诊断TAPVC的可靠方法;产前诊断TAPVC有利于孕妇作出优生优育选择,使胎儿出生后得到及时治疗。     

超声心动图诊断胎儿完全型肺静脉异位引流

目的 探讨胎儿完全型肺静脉异位引流(TAPVC)产前诊断线索及超声心动图特征.方法 回顾性分析于我院经超声诊断并经尸体检查或出生后超声心动图证实的14胎TAPVC胎儿的二维及多普勒图像的特征.结果 产前诊断12胎TAPVC,其中心上型9胎,心内型2胎,心下型1胎.TAPVC的产前诊断线索及超声心动图特征:二维超声四腔心切面未显示肺静脉角,左心房后壁光滑;左心房后壁与降主动脉间距离增大;可见共同肺静脉腔和垂直静脉.产前超声心动图漏诊2胎,经出生后超声心动图证实均为心内型TAPVC.14胎TAPVC中,4胎伴肺静脉引流途径梗阻.结论 胎儿超声心动图可诊断TAPVC并准确分型;脉冲和彩色多普勒超声可显示肺静脉回流途径梗阻.     

产前超声诊断胎儿孤立完全性肺静脉异位连接

目的探讨本中心32例胎儿孤立完全性肺静脉异位连接(TAPVC)产前超声的主要特征。方法选择我院经产前超声心动图检出孤立TAPVC病例32例,经出生后检查或尸检证实诊断,回顾性分析超声检查的图像和结果。结果本研究胎儿共诊断TAPVC 75例,孤立TAPVC 35例。单发病例诊断时孕周为22~38周,平均(27.5±4.5)周,年龄为21~38岁,平均(28.0±4.0)岁,其中引产23例,12例出生。出生后证实诊断的9例,假阳性3例。出生的9例TAPVC病例8例在新生儿期手术治疗,平均手术年龄8.6d,平均随访40.6个月(18~75个月)。引产病例由尸检证实诊断。总结可作为超声诊断特征的直接征象和间接征象:包括肺静脉共同腔、肺静脉回流完整途径(是否存在梗阻)、右心优势、左房后壁-降主动脉的距离、引流入血管(腔静脉和冠状窦)扩张等。结论胎儿孤立TAPVC产前超声具有特征性表现。产前系统检查可对TAPVC的分型及梗阻做出准确的判断,为孕妇制定最佳的生产计划和手术方案。     

超声产前诊断胎儿完全性肺静脉畸形引流的临床研究

目的 探讨产前超声诊断胎儿完全性肺静脉畸形引流的临床价值.方法 回顾性分析我院诊断的10例胎儿完全性肺静脉畸形引流的产前超声表现,并与病理结果进行对照.结果 10例胎儿产前超声诊断完全性肺静脉畸形引流,7例终止妊娠后病理解剖证实,失访3例.7例经解剖证实的完全性肺静脉畸形引流病例产前超声检查均可见左心房显著缩小,彩色多普勒不能显示任何一支肺静脉血流引流入左心房,其中5例显示共同肺静脉腔并测及高速静脉血流频谱、引流途径管腔增宽,3例合并其他心外畸形.结论 产前超声对胎儿完全性肺静脉畸形引流的诊断具有重要的临床价值.     

产前超声心动图与解剖铸型观察胎儿完全性肺静脉异位引流

目的 采用产前超声心动图与解剖铸型观察胎儿完全性肺静脉异位引流（TAPVC）。方法 纳入9胎经产前超声心动图诊断为TAPVC的胎儿,对引产后3胎标本进行解剖、6胎标本制作胎儿心脏铸型,观察胎儿静脉回流特点及合并心内外畸形。结果 9胎TAPVC中,66.67%（6/9）为心上型,33.33%（3/9）为心下型。胎儿超声四腔心切面见左心房缩小,未见静脉与左心房相连;三血管气管切面见左心房后方赘余血管;6胎心上型TAPVC中,4胎肺静脉汇入右上腔静脉、2胎肺静脉汇入左上腔静脉;3胎心下型TAPVC肺静脉均汇入门静脉。9胎均合并心房异构综合征,8胎（8/9,88.89%）合并单心室,7胎（7/9,77.78%）合并肺动脉狭窄,合并单心房及完全型心内膜垫缺损各4胎（4/9,44.44%）;5胎（5/9,55.56%）合并永存左上腔静脉,合并双下腔静脉及左头臂静脉主动脉弓下走行各1胎（1/9,11.11%）;1胎（1/9,11.11%）合并膈疝。结论 TAPVC胎儿多合并心内外畸形及体静脉异常。产前超声具有重要诊断价值,解剖铸型有助于认识TAPVC胎儿血管走行及静脉引流途径。     

Two- and four-dimensional echocardiography with B-flow imaging and spatiotemporal image correlation in prenatal diagnosis of isolated total anomalous pulmonary venous connection.

OBJECTIVES: To explore whether the use of four dimensional (4D) ultrasound examination with B-flow imaging and spatiotemporal image correlation (STIC) can supply additional information with respect to two-dimensional (2D) gray-scale and color Doppler echocardiography in the prenatal characterization of isolated total anomalous pulmonary venous connection (TAPVC). METHODS: The study population comprised a group of three TAPVC fetuses that had been examined exclusively by conventional echocardiography, and a group of four additional cases initially identified by conventional echocardiography and examined further by 4D ultrasonography; a thorough postnatal work-up was available for all fetuses. RESULTS: At our center, isolated TAPVC was found in seven of 1040 fetuses with cardiac defects (0.67%). Anomalous drainage was supracardiac to the innominate vein in three cases, cardiac to the coronary sinus in two, and infracardiac to the portal vein in the remaining two cases. An evident asymmetry between left heart and right heart structures was observed in 4/7 cases. The confluence of the anomalous pulmonary veins (PVs) was visualized in 4/7 cases and the connecting vertical vein was identified in 3/5 cases at 2D echocardiography. 4D ultrasound imaging with B-flow imaging and STIC clearly visualized the anomalous PV confluence and the draining vertical vein in all four cases examined. CONCLUSION: 2D and color Doppler echocardiography appears to diagnose reliably TAPVC, albeit with some limitations in thorough assessment of the pathology, depending on the anatomy of the defect, on the technical adequacy of the equipment used and on the experience of the operator. 4D ultrasound examination with B-flow imaging and STIC is apparently able to facilitate identification of the anatomical features of TAPVC, thus supplying additional information over that provided by 2D fetal sonography.     

A Simple Rule for Prenatal Diagnosis of Total Anomalous Pulmonary Venous Return

The objective of this series was to describe a simple rule for prenatal diagnosis of total anomalous pulmonary venous return (TAPVR). Fourteen fetuses had a prenatal diagnosis of TAPVR by the simple rule, including the following components: (1) the major criterion, which was the absence of a connection between the pulmonary vein and the left atrium; and (2) at least 1 of the following minor criteria: (a) the presence of a vascular confluence behind the atria, (b) abnormal spectral Doppler waveforms in the pulmonary veins, (c) a smooth posterior wall of the left atrium, (d) increased retroatrial space, (e) a dilated coronary sinus (cardiac type), (f) a dilated superior vena cava or brachiocephalic vein, and (g) an additional vessel on the 3‐vessel/3‐vessel and trachea view or a vertical descending vein. All were accurately diagnosed, and none were missed by the diagnosis. In summary, the simple rule described is helpful in increasing the number of accurate prenatal diagnoses of TAPVR.     

Prenatal diagnosis of total anomalous pulmonary venous connection to the portal vein associated with right atrial isomerism.

We report the prenatal diagnosis of total anomalous pulmonary venous connection to the portal system in a 20-week fetus with right atrial isomerism. The apex of the fetal heart pointed to the left, the fetal stomach was on the right, there was a common atrioventricular valve, the left ventricle was small and the abdominal aorta and inferior vena cava were on the left side; all these features were suggestive of right atrial isomerism. An anomalous vein was connected to the portal vein which ascended above the diaphragm and ended in a confluence of pulmonary veins, posterior to the common atrium. Color Doppler imaging helped confirm the diagnosis of total anomalous pulmonary venous connection. The prenatal findings were confirmed on autopsy.     

中孕期大畸形筛查漏诊完全性肺静脉异位引流一例

胎儿期间,因胎儿心脏较小,心率较快,产前常规超声对TAPVC的诊断非常困难,只有在左房后方形成较为明显的肺总静脉,产前超声才较容易发现[3],所以一般产前常规超声容易漏诊。特别是最为重要的中孕大畸形筛查期间,假如超声检查图像不规范,也比较容易漏诊。 总结分析漏诊TAPVC原因可能有以下几种：1.胎儿期间因特殊的血流动力学影响,左右心房及心室基本对称,没有出现明显的右心房扩大,左心房缩小等较为明显的间接心脏改变。2.左房后方肺静脉与左心房存在空间的重叠,容易误认为肺静脉角存在,而认为肺静脉血流引流至左房,导致对TAPVC的漏诊。3.彩色多普勒技术应用不规范,通常情况下,将彩色血流速度标尺下降至 20 cm/s 左右,以便能更好地观察肺静脉血流。假如标尺过高,容易屏蔽低速肺静脉血流,而导致漏诊的发生。4.超声筛查时,技术不规范,切面不标准,左心房后方明显光滑,未仔寻找其明确原因,而导致漏诊的发生[4]。本例胎儿中孕期筛查图像,心脏图像较小,未进行充分放大,彩色标尺过高,未显示明显肺静脉血流,也未明显看到明显的肺静脉角,所得导致漏诊,误诊的发生。随着产前超声图像的标准化管理,完全性肺静脉异位引流得到了越来越多的关注,检出率也有了明显的提高。     

超声心动图诊断胎儿孤立性完全性肺静脉异位引流

目的探讨超声心动图诊断胎儿孤立性完全性肺静脉异位引流(TAPVC)的价值.方法 回顾性分析17例胎儿孤立性TAPVC的产前超声资料,观察分析其二维超声心动图及CDFI表现,测量TAPVC胎儿左心室与右心室横径比值(LV/RV)、左心房与右心房横径比值(LA/RA),并与同孕周正常胎儿预测值进行统计学比较.结果 15例孤立性TAPVC胎儿中,心上型9例,心内型4例,心下型2例;4例见血流梗阻,其中心上型3例,心下型1例,CDFI示梗阻处血流信号明亮,梗阻处流速1.0~1.6 m/s.15例孤立性TAPVC胎儿的LV/RV为0.75~0.99,平均0.88±0.08,小于同孕周正常胎儿预测值(t=-3.305,P=0.005).LA/RA为0.68~1.00,平均0.84±0.11,亦小于同孕周正常胎儿预测值(t=-3.320,P=0.005).结论 超声心动图可用以胎儿期诊断孤立性TAPVC.     

探讨302例心上型肺静脉异位引流的超声诊断与漏误诊原因

目的 分析302例心上型完全性和部分性肺静脉异位引流(TAPVC和PAPVC)的彩色多普勒超声心动图图像特点,探讨其超声诊断价值及误诊与漏诊原因。方法 回顾性研究204例完全性和98例部分性心上型肺静脉异位引流患者的彩色多普勒超声图像特征,与CT或手术对照,分析漏、误诊原因与鉴别要点。结果(1)204例心上型TAPVC的超声心动图诊断准确率为100.0%。引流部位方面,193例汇入头臂静脉;11例直接开口于右上腔静脉。引流支数方面,202例表现完整的4支肺静脉;仅2例显示3支肺静脉。主要合并的畸形有房间隔缺损165例(80.9%)、卵圆孔未闭34例(16.7%)等。(2)98例心上型PAPVC的超声心动图诊断符合74例、误诊20例(6例超声分型与外科手术不符、9例引流支数误判及5例手术正常)、漏诊4例(3例超声仅提示房缺、1例孤立性肺静脉异位引流),诊断准确率、误诊率、漏诊率分别为75.5%、20.4%和4.1%。引流部位方面,60例引流入头臂静脉、37例汇入右上腔静脉、1例经奇静脉汇入上腔静脉。引流支数方面,单支71例、二支21例及三支6例。合并的常见畸形有房间隔缺损67例(68.4%)、卵圆孔未闭15例(15.3%)等。结论 超声诊断部分性肺静脉异位引流的准确性弱于完全性,通过有意识加强灵活应用胸骨旁、剑突下、右锁骨上窝上腔静脉长轴等非标准切面,全面扫差异常血管走形,关注异位引流的部位、汇入支数及合并畸形,注重伪像及正常或异常心内结构的鉴别诊断,有助于降低心上型肺静脉异位引流的漏误诊率。     

全肺静脉畸形引流的彩色多普勒诊断

本文对照分析14例全肺静脉畸形引流（TAPVC）和13例房缺的超声结果，认为右心的改变对诊断TAPVC无特异性，左房形态及大小变化，肺静脉回流左房图象消失和房水平明显右向左分流对诊断有较大的价值。肺静脉引流部位的判断，采色多普勒和X线右心造影符合率（100％）高于二维超声。对心内并发畸形的诊断右心造影（90％）低于超声（100％）。     

区域血流追踪法在超声诊断胎儿肺静脉异位引流中的应用价值

目的探讨区域血流追踪法在超声诊断胎儿肺静脉异位引流中的价值。 方法回顾性选取2015年1月至2019年12月在河北生殖妇产医院进行胎儿超声心动图检查，诊断为肺静脉异位引流的胎儿41例。超声检查胎儿肺静脉时，应用区域血流追踪法，即将肺组织大致分为4个区域，左侧前上部1/2肺野、左侧后下部1/2肺野、右侧前上部1/2肺野、右侧后下部1/2肺野，应用彩色血流技术对41例肺静脉异位引流胎儿4个区域内肺静脉分支进行追踪并定位，观察其近心端与左心房的关系及最终回流部位。 结果41例肺静脉异位引流胎儿，4个区域内肺静脉远端分支分别引流入左上肺静脉、左下肺静脉、右上肺静脉、右下肺静脉。36例完全型肺静脉异位引流胎儿4条肺静脉近心端均未汇入左心房，其中34例呈现左心房后方汇聚征。心上型25例肺静脉最终回流入上腔静脉；心内型7例中6例通过冠状静脉窦回流入右心房，1例直接回流入右心房；心下型2例肺静脉回流入门静脉窦；混合型2例，1例左侧肺静脉汇入上腔静脉，右侧肺静脉汇入下腔静脉，1例左侧肺静脉汇入上腔静脉，右侧肺静脉回流入右心房。5例部分型肺静脉异位引流胎儿，1例右上肺静脉直接回流入右心房，2例右上肺静脉回流入上腔静脉，1例右上、右下肺静脉直接回流入右心房，1例左肺静脉变异为3支，最上支经无名静脉回流入上腔静脉。 结论应用区域血流追踪法可使肺静脉分支检查更全面，定位更加精确，有助于提高胎儿肺静脉异位引流的诊断准确性。     

胎儿双主动脉弓的产前超声心动图诊断

目的探讨双主动脉弓胎儿产前超声心动图特征及产前诊断临床意义。方法对南京医科大学附属苏州医院2012年1月至2013年2月产前超声心动图检出的5例双主动脉弓胎儿的超声心动图特征、分型及临床结局进行总结分析。结果5例双主动脉弓胎儿超声心动图表现：（1）三血管气管观中主动脉与动脉导管失去正常“V”字形结构,升主动脉发出左、右主动脉弓围绕气管,彩色多普勒血流成像示环状血流信号围绕气管。（2）超声心动图示5例胎儿中3例为右主动脉弓优势型,2例为左、右主动脉弓平衡型。（3）1例（例2）胎儿合并膜部室间隔缺损、永存左上腔静脉：1例（例4）胎儿合并半椎体畸形,3例胎儿未发现合并其他畸形。5例胎儿均行磁共振检查并随访至引产或产后3个月,随访检查均证实胎儿为双主动脉弓畸形。结论双主动脉弓是胎儿严重的先天性心脏病,超声心动图是产前首选的诊断方法,三血管气管观是诊断双主动脉弓的有效切面。     

完全性肺静脉畸形引流的超声心动图诊断

目的：评价超声心动图对完全性肺静脉畸形引流（TAPVC）的诊断价值。方法：回顾分析16例超声诊断为TAPVC的超声心图特征，其中11例超声结果与手术结果相对照，超声检查内容包括二维及彩色多普勒显像，分别经胸骨旁、胸骨上窝，剑突下等部位多切面观详细观察肺静开口部位，引流途径，共同肺静脉干形态及存在的合并畸形等。结果：按Darling等的分型，16例TAPVC患者中超声诊断分型为：心上型（Ⅰ型）11例，其中ⅠA型10例，ⅠB型1例，心内型（Ⅱ型）5例，其中ⅡA型2例，ⅡB型3例。11例经手术证实的TAPVC患者超声诊断及分型与手术结果一致，同时超声心动图还可以估计肺动脉压力，发现合并存在的其他畸形等。结论：超声心动图是TAPVC患者术前首选检查方法，如能多部位多切面仔细观察，则可对TAPVC作出准确的定性及分型诊断。     

Prenatal diagnosis of ventriculocoronary fistula.

BACKGROUND: Cardiac anomalies may be associated with abnormal coronary vascular connections. We report the prenatal diagnosis of ventriculocoronary fistula in three fetuses with associated cardiac anomalies. MATERIALS AND METHODS: Fetal echocardiography was performed in three patients referred for suspected cardiac anomaly. Two-dimensional fetal echocardiography was complemented by color Doppler flow imaging and spectral Doppler in all cases. RESULTS: A ventriculocoronary fistula was diagnosed in three patients referred at 22, 23 and 32 weeks. The first patient had hypoplastic left heart associated with transposition of the great arteries and pulmonary atresia with an intact interventricular septum. The coronary fistula arose from the transposed aorta to the left ventricle. In two patients ventriculocoronary fistula was found in association with pulmonary atresia and an intact interventricular septum. In all cases there was bidirectional flow within the fistula (diastolic blood flow towards the ventricle with reversal during ventricular systole). The pregnancy with hypoplastic left heart with transposition, and one of those with pulmonary atresia resulted in neonatal death and stillbirth, respectively. In the third instance the ventriculocoronary fistula was verified by postpartum cardiac angiography. The infant initially received a Blalock-Taussig shunt, subsequently replaced by a bidirectional Glenn shunt, and was doing well at the time of writing. CONCLUSION: A ventriculocoronary fistula can be identified prenatally by color and spectral Doppler. This anomaly should be sought in fetuses with outflow tract obstructive cardiac lesions and an intact interventricular septum. Prenatal diagnosis allows early angiography postnatally. Delineation of coronary vascular regions may therefore facilitate preoperative planning.     

In utero diagnosis of obstructed supracardiac total anomalous pulmonary venous connection in a patient with right atrial isomerism and asplenia.

We describe a rare case of right atrial isomerism, levocardia, right-side stomach, obstructed supracardiac total anomalous pulmonary venous connection, double outlet right ventricle with complete atrioventricular septal defect and absent spleen. From the pulmonary venous confluence behind the atrium an ascending as well as a descending vertical vein communicated with the systemic venous system in the supracardiac as well as the infracardiac position. The pulsed and color Doppler examination of the individual pulmonary veins as well as of the vertical vein helped in making the diagnosis of obstructed total anomalous pulmonary venous connection. The diagnosis was made by fetal echocardiographic examination at 22 weeks of gestation and confirmed on postnatal echocardiography, cardiac catheterization, and at surgery.     

产前超声在诊断胎儿单肾缺如中的应用价值

目的 探讨产前超声在诊断胎儿单肾缺如（URA）中的应用价值.方法 回顾分析经产前超声诊断为URA的14例胎儿的超声资料,并与病理结果对照分析.结果 14例URA胎儿,其中7例左肾缺如,7例右肾缺如.超声表现为一侧肾窝及盆腹腔内未探及肾脏声像,彩色多普勒超声仅见一组肾动、静脉红蓝血流信号.14例URA胎儿均经出生或引产后证实.结论产前超声检查胎儿肾脏须多切面仔细检查,并结合彩色多普勒超声观察肾动脉和肾静脉,可有效检出URA.     

超声心动图评估完全型肺静脉异位连接中肺静脉病变

目的 探讨超声心动图评估完全型肺静脉异位连接（TAPVC）中肺静脉病变的价值。方法 收集55例TAPVC患儿的超声心动图资料,并与CTA及术中所见进行对比。结果 应用超声心动图根据肺静脉引流部位对55例TAPVC患儿进行分类,分为心上型24例、心内型20例、心下型7例及混合型4例。15例垂直肺静脉梗阻中,心上型的梗阻多出现在垂直静脉与无名静脉或上腔静脉之间,心下型的梗阻均出现在垂直静脉与肝静脉或门静脉之间。肺静脉狭窄4例,其中3例局限性狭窄均为心内型,出现在分支肺静脉与共同肺静脉腔或右心房之间,1例弥漫性狭窄为心下型。分支肺静脉异常9例,其中超声心动图仅检出1例,而CTA检出8例。结论 超声心动图能对TAPVC中的肺静脉的引流、梗阻和分支肺静脉近端的狭窄做出更为全面的评价。CTA评估分支肺静脉的汇入和数目异常及远端肺静脉的成像方面优于超声心动图。