产前超声筛查诊断室间隔完整-肺动脉闭锁的临床价值

目的探讨室间隔完整-肺动脉闭锁的产前超声筛查诊断意义及临床价值。方法对20 000例胎儿采取胎儿心脏四腔心切面、左右心室流出道切面、三血管切面快速筛查胎儿心脏畸形,对疑有胎儿心脏畸形者叠加彩色多普勒超声观察血流,对异常者进行胎儿超声心动图复查确诊。结果产前共诊断室间隔完整-肺动脉闭锁7例。结论超声诊断胎儿室间隔完整-肺动脉闭锁,四腔心切面有很好的提示作用,结合其他切面及彩色多普勒超声观察血流,对诊断室间隔完整-肺动脉闭锁具有重要的临床价值,值得在广大的基层医院开展应用。     

产前超声对胎儿法洛四联症疾病谱的鉴别诊断

目的探讨胎儿法洛四联症、伴室间隔缺损的肺动脉闭锁、肺动脉瓣缺如综合征的超声特征,以提高3种疾病的产前超声诊断的准确率。方法回顾分析2013年8月至2017年1月,我院产前超声诊断为法洛四联症23例、伴室间隔缺损的肺动脉瓣闭锁12例、肺动脉瓣缺如综合征3例的病人,总结其各切面超声图像特征。结果 23例法洛四联症胎儿,超声图像特征:(1)主动脉根部内径增宽,骑跨于室间隔之上;(2)室间隔膜周部缺损;(3)三血管切面显示肺动脉内径较主动脉狭窄;(4)彩色多普勒显示肺动脉内可见前向血流。12例伴室间隔缺损的肺动脉闭锁胎儿,超声图像显示:(1)主动脉根部扩张,骑跨于缺损的室间隔上;(2)彩色多普勒肺动脉内无前向血流显示;(3)可见动脉导管内的逆向血流。3例肺动脉瓣缺如综合征胎儿,超声显示:(1)主动脉根部不扩张,主动脉骑跨于室间隔;(2)右室扩张,肺动脉主干及其分支明显扩张;(3)彩色多普勒显示跨肺动脉瓣环的高速往返血流。结论三者都有各自独特的超声表现。产前超声多切面联合应用,相互补充,可提高诊断的准确率。     

胎儿动脉导管缺如的尸体解剖分析

目的对胎儿先天性动脉导管缺如进行尸体解剖分析,以提高该疾病诊断的精准性。方法回顾2011年1月至2019年9月北京安贞医院经超声心动图畸形筛查发现胎儿先天性心脏畸形引产而进行尸体解剖病例400例,检查胎儿心血管畸形及内脏的畸形情况,对其动脉导管缺如进行分析总结。结果400例胎儿先天性心脏病中,动脉导管缺如24例,检出率6%,男女各12例,左位主动脉弓19例,右位主动脉弓5例,21例具有肺动脉主干,3例无肺动脉主干及分支。具体情况如下:(1)肺动脉狭窄伴动脉导管缺如15例,伴发主要心血管畸形:单心室6例,房间隔缺损6例,单心房4例,右心房异构4例,右心室双出口4例,静肺脉异位引流4例,法洛四联症3例,永存左上腔静脉3例;(2)肺动脉闭锁伴动脉导管缺如7例,3例无肺动脉主干,4例肺动脉闭锁伴有狭窄的肺动脉主干,均可见体-肺动脉侧支;(3)法洛四联症伴肺动脉瓣缺如综合征及动脉导管缺如1例,肺动脉扩张;(4)主-肺动脉间隔缺损伴动脉导管缺如1例,肺动脉正常。动脉导管缺如伴发主要心外畸形:脾缺如7例,肺异常7例,内脏反位7例。结论胎儿动脉导管缺如常合并复杂先天性心血管畸形;动脉导管缺如合并肺动脉闭锁常伴体-肺动脉侧支;内脏畸形与伴随的先天性心血管畸形有关。     

结合心超声研究的胎儿心脏测量

对40例16-42周引产的胎儿心脏进行了17项与胎儿心超声研究直接有关的项目的测量。36例为正常胎儿心脏。动脉导管长度随胎龄增加而加长,内径下端大于上端。卵园孔全部开放,一半为孔,一半为裂隙;瓣膜覆盖孔的面积为20～100%。一例卵园孔瓣膜向右房侧脱垂。四个瓣环周长随胎龄而增大。三尖瓣环周长大于二尖瓣环周长,肺动脉瓣环周长大于主动脉瓣环周长。左室壁比右室壁厚,比值约为1.2.3例畸形胎儿的心脏形态正常。1例正常胎儿心脏的动脉导管长而弯曲。     

超低温保存同种异体带瓣管道在肺动脉闭锁手术中的应用

目的观察同种异体带瓣管道(同种异体带瓣主动脉或肺动脉)应用于肺动脉闭锁根治手术中的治疗效果。方法 2005年10月至2014年5月,清华大学附属第一医院在17例肺动脉闭锁合并室间隔缺损的手术中用超低温保存的同种异体带瓣管道重建右室流出道。所有病例均为肺动脉闭锁合并室间隔缺损。主动脉肺动脉分流术后7例,肺动脉单源化手术后3例,距离第1次手术平均时间为2.1年。男性患者10例,女性患者7例。年龄1~16岁,平均6.4岁。体质量8~50 kg,平均21.6 kg。同种带瓣肺动脉管道14例,同种带瓣主动脉管道3例,管道直径20~24 mm,平均22.1 mm。结果术后低心排出量死亡1例,其余16例出院,1例因出现完全房室传导阻滞于术后1个月植入永久起搏器。随访6个月到8.5年,平均为4.5年。随访的16例中,中度肺动脉瓣反流1例,中度三尖瓣反流3例,轻度肺动脉瓣狭窄2例。15例未见明显肺动脉瓣反流。2例分别于第5、7年出现肺动脉跨瓣压差64、58 mm Hg。带瓣管道完好率为68.8%,无随访死亡病例。结论作为右室流出道重建材料,同种异体带瓣管道应用于肺动脉闭锁矫治手术能取得良好的疗效。     

系统产前超声在胎儿心脏畸形诊断中的临床应用

目的探讨系统产前超声在胎儿心脏畸形筛查中的作用和检查方法。方法分析本院2013年1月-2015年1月间在胎儿系统产前超声筛查中诊断的86例胎儿心脏畸形的临床资料,观察各种心脏畸形不同切面的超声表现。结果 86例胎儿心脏畸形中单纯室间隔缺损25例,法洛四联症14例,完全性心内膜垫缺损13例,完全性大动脉转位10例,右室双出口5例,单心房单心室5例,左心发育不良4例,永存动脉干3例,心脏横文肌瘤3例,三尖瓣下移畸形3例,肺静脉异位引流1例。漏诊5例,其中完全性肺静脉异位引流1例、单纯室间隔缺损3例、肺动脉瓣狭窄1例。所有病例经上级医院会诊或出生后复诊和引产后病检证实。结论系统超声中联合应用四腔心、左、右流出道、三血管、三血管气管、动脉导管弓及主动脉弓、上下腔入右房等多切面扫查,对胎儿心脏畸形的宫内诊断有较高的敏感性及特异性,是产前筛查胎儿先天性心脏病的首选方法。     

胎儿肺动脉起源异常8例尸体解剖分析

目的 对胎儿先天性肺动脉起源异常进行分析,提高该疾病诊断的精准性。方法 回顾性分析8例胎儿先天性心脏畸形病例,均经尸体解剖证实,检查胎儿心血管畸形及内脏的畸形情况,对肺动脉异位起源进行分析总结。结果 肺动脉异位起源8例,其中男胎4例,女胎4例,孕期为孕21～28周。右肺动脉起自升主动脉1例,同时存在主-肺动脉间隔缺损、主动脉弓离断并室间隔完整,即Berry综合征。双侧肺动脉融合起自左头臂干1例,患者伴肺动脉闭锁等多种心血管畸形及心外脏器畸形。左肺动脉和右肺动脉分别起自不同主动脉或分支3例,均伴随肺动脉闭锁,1例左肺动脉起自左头臂干,右肺动脉起自降主动脉及右侧动脉导管;1例左肺动脉起自右动脉导管,右肺动脉起自右锁骨下动脉;1例左肺动脉起自左动脉导管,右肺动脉起自降主动脉。左肺动脉吊带3例,肺动脉主干发出右肺动脉,右肺动脉发出左肺动脉形成血管环。结论 胎儿肺动脉异位起源是一种少见血管畸形,其走行复杂多样,可伴随心内畸形及心外脏器畸形。     

规范的超声心动图评估胎儿心脏结构、功能的临床价值分析

目的:探讨将规范的超声心动图应用于胎儿心脏结构、功能评估中的价值分析。方法:选取本院2016年1月至2019年6月经四维超声明确诊断胎儿心脏结构异常的孕妇85例为观察组,选取同期孕检胎儿心脏结构正常的孕妇85例为对照组,通过超声心动图检测胎儿心脏结构、心脏功能、心肌工作指数。结果:对照组胎儿左、右心室收缩末期内径,左、右心室舒张末期内径,左、右心室壁厚度,室间隔收缩、舒张末期厚度均优于观察组(P0.05)。对照组左、右心室短轴缩短率,二、三尖瓣E/A峰值速度比值,主、肺动脉瓣血流峰值速度,左、右心输出量及左室射血分数均优于观察组(P0.05)。对照组胎儿二、三尖瓣血流从A峰到E峰的时间间隔,主、肺动脉射血时间,左、右心室Tei指数均低于观察组(P0.05)。结论:规范的超声心动图检查可有效的反映胎儿心脏结构、心脏功能、心肌运动状态,可有效的评估胎儿心脏发育状况。     

胎儿右心室发育不良的产前超声诊断价值

目的探讨产前超声四切面法对胎儿右心室发育不良的诊断价值。方法于2013年1月至2015年1月对20 000例18-24w胎儿,应用超声四切面法筛查胎儿心脏。首先确定胎儿心脏的位置及心轴,二维超声显示四腔心、左室流出道、右室流出道、三血管切面,重点观察二尖瓣、三尖瓣、主动脉瓣和肺动脉瓣的启闭情况,再用多普勒超声观察胎儿心脏各瓣膜的血流。结果 20 000例行常规超声四切面法筛查孕妇中检出胎儿右心室发育不良7例,均伴肺动脉狭窄近闭锁及三尖瓣闭锁,全部病例都选择中止妊娠引产。结论产前超声四切面法对检出胎儿右心室发育不良及其分型有着极其重要的临床价值,它能提高对涉及心室发育不良及大动脉异常胎儿先天性心脏病的判断,是诊断胎儿心室发育不良的最佳检查方法之一。     

经胸超声心动图在肺动脉栓塞诊断中的应用价值

目的:探讨经胸超声心动图(TTE)对肺动脉栓塞(PE)的诊断价值.方法:回顾性分析21例经 CT肺动脉造影检查确诊为 PE患者的经胸超声心动图表现.结果:本组21例,经胸超声心动图大致正常者6例;直接检出主肺动脉及左、右肺动脉近段血栓8例;间接征象提示右心负荷过重15例(包括8例直接检出血栓者),均有右心扩大的表现,其中右室内径(30.7±5.4)mm,右房内径(59.4±6.6)mm.彩色多普勒观察到三尖瓣返流16例,检测其返流速度估测出肺动脉收缩压增高15例,收缩压均高于40 mmHg.结论:经胸超声心动图对中央型肺栓塞具有较高的诊断价值,它可以显示血栓发生的部位.对周围型(肺段及远端分支)肺栓塞虽然不能直接做出诊断,但根据右心扩大、三尖瓣返流及肺动脉高压等间接征象,可为肺动脉栓塞的诊断提供佐证,为临床诊断提供帮助.     

Possible link between right ventricular coronary sinusoids and noncompaction sinusoids in pulmonary atresia with intact ventricular septum patients that later develop left ventricular noncompaction

Patients who have pulmonary atresia with intact ventricular septum have been shown to have a number of various myocardium anomalies like ischemia, fibrosis, infarction, rupture, disarray, spongious myocardium and ventricular endocardial fibroelastosis. Multiple connections have been found between right ventricular myocardial sinusoids and small branches of intramural coronary arteries. Noncompation of ventricular myocardium has been shown to be the result of myocardial ischemia or excessive pressure preventing the reduction of embryonic sinusoids. The persistence of intertrabecular recesses that are connected to both the ventricular cavity and coronary circulation is the result of this process. In this text, we describe a PA-IVS patient who underwent patent ductus arteriosus stenting and pulmonary valve perforation to create antegrade flow and later developed left ventricular noncompaction. We posit that there is a connection between right ventricular coronary sinusoids and noncompaction sinusoids. As our patient’s RV outflow tract stenosis and RV pressure increased, the coronary circulation connected to coronary sinuses became sufficient and LV function improved, which further supports our hypothesis.     

Isometric cardiac contraction. a possible cause of the disorganized myocardial pattern of idiopathic hypertrophic subaortic stenosis

The bizarre septal architecture of idiopathic hypertrophic subaortic stenosis (IHSS) may be secondary to a small systolic cavity with late systolic isometric contraction. We examined ventricular muscle for IHSS-type muscle-fiber disarray in infant hearts in which isometric contraction would occur during development-namely, pulmonary or aortic-valve atresia with intact ventricular septum and normal atrio-ventricular valves. Fifteen patients with aortic atresia and 10 with pulmonary atresia were compared to 25 normal controls of matched age and heart weight. Aortic atresia showed disorganization of muscle-fiber alignment of left ventricle, particularly septum, and intramural coronary-artery changes virtually identical to IHSS. Pulmonic atresia had similar right ventricular disarray and vessel changes, again most marked in the septum. Thus, cardiac muscle-cell disorientation similar to IHSS occurs in infant ventricles with outflow-tract obstruction. This IHSS-type myocardial-fiber disarray may result from altered wall stresses related to isometric systolic contraction.     

Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: a single gene disorder?

We report on 2 sisters with hypoplastic right heart and pulmonary atresia. The first sib was found to have pulmonary atresia, intact ventricular septum, and hypoplastic right heart after delivery. Fetal echocardiography at 22 weeks of gestation during the second pregnancy documented the same cardiac abnormalities. Autopsy findings in the fetus confirmed the echocardiographic findings. No other malformations were detected in either case, and no other affected relatives were identified. We suggest that this rare congenital heart defect may, in some cases, be an autosomal recessive trait.     

Platypnea-Orthodeoxia Syndrome Two Decades after Definitive Surgical Repair of Pulmonary Atresia with Intact Ventricular Septum

A 20-year-old female had undergone definitive surgical repair for pulmonary atresia with intact ventricular septum soon after birth. She was referred to our institution with the chief complaint of clubbing fingers. A thorough examination revealed platypnea-orthodeoxia syndrome due to an interatrial right-to-left shunt through a secundum atrial septal defect. Percutaneous closure with an Amplatzer Septal Occluder resulted in resolution of the syndrome.     

Atresia of the pulmonary artery with intact intraventricular septum

Cardiological studies of 16 patients with atresia of the pulmonary artery (APA) and intact interventricular septum (IIS) provided evidence for the following inferences: 1) most hearts in this pathology are characterized by right ventricular (RV) hypoplasia which determines structural defects of the ventricle dependent in their severity on restriction capacity of the right atrioventricular valve and time from the onset of reduced RV blood flow 2) common anatomical features of the defect are complete RV obstruction due to valvular atresia, IIS and normal shape of the conus, RV myocardial hypertrophy 3) survival of the patients conditioned by interatrial communication and open arterial canal. According to the authors, there are three types of APA with IIS. Type I--normal right ventricle with distinct components: sinuous, conical, trabecular. Type II--hypoplastic right ventricle with blocked function of the trabecular component. Type III--right ventricle affected by advanced hypoplasia and with operable sinuous part only.     

Outcomes in Neonates with Pulmonary Atresia and Intact Ventricular Septum Underwent Pulmonary Valvulotomy and Valvuloplasty Using a Flexible 2-French Radiofrequency Catheter

Purpose

Outcomes in 6 neonates with pulmonary atresia and intact ventricular septum (PAIVS) undergoing radiofrequency pulmonary valvulotomy and valvuloplasty (RPVV) were reported to identify the factors favorable for RPVV as the treatment of choice.

Materials and Methods

From May 2000 to January 2008, 6 patients with PAIVS were included in this retrospective study. They were aged 1 day to 90 days old. Study modalities included review of recordings of presentations and profiles of chest radiography, electrocardiography, echocardiography, and cardiac catheterization with angiography. Hemodynamic profiles from the echocardiography and the cardiac catheterization were analyzed.

Results

Echocardiography showed severe tricuspid regurgitation, membranous atresia of the pulmonary valve, intact ventricular septum, patent ductus arteriosus, and hypoplastic right ventricle in 6 patients. The pulmonary valve annulus were 4.2 to 6.9 mm in diameters, and those of the tricuspid valve were 7.1 to 10.1 mm. Elevated serum level of cardiac enzymes were found in 1 patient with ventriculocoronary communication (VCC). At cardiac catheterization, the ratio of systolic pressure of the right ventricle to that of the left ventricle ranged from 1.43 to 2.33 before RPVV, and from 0.54 to 1.15 after RPVV (p=0.027). The pressure gradients ranged from 76 to 136 mmHg before RPVV, and from 15 to 39 mmHg after RPVV (p=0.028). The echocardiographic gradients ranged from 16 to 32 mmHg within 24 hours after RPVV, and from 15 to 50 mmHg at the follow-ups.

Conclusion

RPVV can be a treatment of choice for neonates with PAIVS, if there is patent infundibulum, no right-ventricular dependent coronary circulation, and adequate tricuspid valve and pulmonary valve.     

Intra-uterine closure of the atrial septum

Two newborn babies with an intact atrial septum are described. In one, the two components of the atrial septum appeared to have become fused after relatively normal initial development; the left side of this heart was hypoplastic. In the other baby the formation of the atrial septum appeared to have been completely anomalous; this heart showed mitral atresia, absence of the left ventricle, and transposition of the great vessels. There was also pulmonary lymphangiectasis in the second case, and it is suggested that this was due to the cardiac malformation obstructing pulmonary venous drainage.     

The tricuspid valve in pulmonary atresia and intact ventricular septum: a morphological study of 60 cases

A morphologic study of the tricuspid valve was performed in 70 patients with pulmonary atresia and intact ventricular septum who had died and subsequently undergone autopsy. The right ventricular cavity was enlarged in 8 patients, normal in 4 patients, mildly underdeveloped in 18 patients, and markedly underdeveloped in 24 patients. In the patients with dilated and enlarged right ventricle, the tricuspid valve exhibited features of dysplasia or Ebstein's malformation (downward displacement), or both, with a dilated anulus. The majority of patients had restriction of the tricuspid valve apparatus and an underdeveloped anulus, usually of a severe degree. The right ventricle appeared to have normal dimensions in four patients, but the tricuspid valve and tensor apparatus, even in these patients, exhibited departures from the normal. This study suggests that in many of these patients adequate right ventricular growth will not be achieved because of inadequate right ventricular filling. This seems directly related to moderate or severe underdevelopment of the tricuspid valve.     

Familial occurrence of pulmonary atresia with intact ventricular septum

Pulmonary atresia with intact ventricular septum (PA/IVS) is a rare disease, accounting for less than 3% of all congenital heart lesions. The cause of PA/IVS is unknown. We report the occurrence of two first cousins with PA/IVS, suggestive of autosomal dominant inheritance with incomplete penetrance. The study of such families should ultimately lead to the identification of the gene(s) that cause congenital heart disease. Am. J. Med. Genet. 72:294–296, 1997. © 1997 Wiley-Liss, Inc.     

Ventriculo-coronary micro-communications in pulmonary atresia and sequential changes of coronary arteries

In the present paper, numerous micro-communications between myocardial sinusoids and small branches of coronary arteries are studied which existed in a rudimentary right ventricle of a female neonate with pulmonary atresia and an intact ventricular septum, who was born on the 40th week of gestation. Cardioangiography revealed a large fistulous subepicardial communication. At autopsy, myocardium of the right ventricle appeared spongy with extensive sinusoid slits. In addition to the large communication which was connecting a deeply extending sinusoid of the right ventricle to the main trunk of the anterior descending artery, numerous micro-communications were found between myocardial sinusoids in the rudimentary right ventricle and intramural small branches of the coronary artery. Furthermore, morphometrical analysis demonstrated that the medias of the intramural arteries in both ventricles of the present case were significantly hypertrophic, as compared with those in the control cases without communications (p less than 0.05). These facts indicate the significance of hemodynamic factors on the persistence of embryonic sinusoid-coronary communication.