Absent Pulmonary Valve with Tricuspid Atresia or Severe Tricuspid Stenosis: Report of Three Cases and Review of the Literature

Absence of the pulmonary valve occurs usually in association with tetralogy of Fallot and occasionally with an atrial septal defect or as an isolated lesion. Very rarely it occurs with tricuspid atresia, intact ventricular septum, and dysplasia of the right ventricular free wall and of the ventricular septum. We present the clinical, anatomic, and histologic findings of a new case, and for the first time, the data from two patients with absent pulmonary valve and severe tricuspid stenosis, who exhibited similar histologic findings. We also reviewed the clinical and anatomic data of 24 previously published cases and compared them with the new cases. In all three new cases, the myocardium of the right ventricle was very abnormal. In the two cases with tricuspid stenosis, large segments of myocardium were replaced with sinusoids and fibrous tissue. In the case with tricuspid atresia, the right ventricular free wall contained only fibroelastic tissue. The ventricular septum in all three patients showed asymmetric hypertrophy and in two of the three patients, multiple sinusoids had replaced large segments of myocardial cells. The left ventricular free wall myocardium and the walls of the great arteries were unremarkable. Our data indicate that myocardial depletion involving the right ventricular free wall and the ventricular septum and its replacement by sinusoids and fibroelastic tissue occur not only in cases of absent pulmonary valve with tricuspid atresia but also in cases of absent pulmonary valve with tricuspid stenosis. The degree of myocardial depletion varies and is more severe when the tricuspid valve is atretic. Received April 8, 1999; accepted July 12, 1999.     

Consensus on Timing of Intervention for Common Congenital Heart Diseases: Part II - Cyanotic Heart Defects

The purpose of this review/editorial is to discuss how and when to treat the most common cyanotic congenital heart defects (CHDs); the discussion of acyanotic heart defects was presented in a previous editorial. By and large, the indications and timing of intervention are decided by the severity of the lesion. While some patients with acyanotic CHD may not require surgical or transcatheter intervention because of spontaneous resolution of the defect or mildness of the defect, the majority of cyanotic CHD will require intervention, mostly surgical. Total surgical correction is the treatment of choice for tetralogy of Fallot patients although some patients may need to be palliated initially by performing a modified Blalock-Taussig shunt. For transposition of the great arteries, arterial switch (Jatene) procedure is the treatment of choice, although Rastelli procedure is required for patients who have associated ventricular septal defect (VSD) and pulmonary stenosis (PS). Some of these babies may require Prostaglandin E₁ infusion and/or balloon atrial septostomy prior to corrective surgery. In tricuspid atresia patients, most babies require palliation at presentation either with a modified Blalock-Taussig shunt or pulmonary artery banding followed later by staged Fontan (bidirectional Glenn followed later by extracardiac conduit Fontan conversion usually with fenestration). Truncus arteriosus babies are treated by closure of VSD along with right ventricle to pulmonary artery conduit; palliative banding of the pulmonary artery is no longer recommended. Total anomalous pulmonary venous connection babies require anastomosis of the common pulmonary vein with the left atrium at presentation. Other defects should also be addressed by staged correction or complete repair depending upon the anatomy/physiology. Feasibility, safety and effectiveness of treatment of cyanotic CHD with currently available medical, transcatheter and surgical methods are well established and should be performed at an appropriate age in order to prevent damage to cardiovascular structures.     

婴儿先天性心脏病1387例外科治疗结果分析

目的 回顾性分析我院近11年来外科治疗的≤6个月小婴儿先天性心脏病(先心病)1387例,探讨其病种、手术时机和治疗观念的变迁,以期进一步提高小婴儿先心病的就诊和救治率.方法 1997年1月至2007年12月,在我院行手术治疗的≤6个月先心病患儿1387例,主要病种包括:室间隔缺损合并肺动脉高压(VSD/PH)、法洛四联症(TOF)、完全性大动脉转位(TGA)、完全性肺静脉异位引流(TAPVC)、主动脉缩窄或主动脉弓中断合并室间隔缺损[CoA(IAA)/VSD]、右心室双出口(DORV)、合并室间隔缺损的肺动脉闭锁(PA/VSD)、室间隔完整的肺动脉闭锁(PA/IVS)等,根据病情采取相应的手术方法矫治,部分复杂型先心病进行了随访.结果 手术死亡110例,总手术死亡率7.9%.从历年手术治疗分析,手术死亡率1997至2003年为11.5%～14.4%,2004至2005年降至8.6%～&9%,2006至2007年降至3.3%～3.8%.对TGA、TAPVC、TOF、PA/VSD、PA/IVS患儿进行了随访,随访率分别为83.8%(98/117)、87.8%(79/90)、48.2%(68/141)、65%(13/20)和95%(19/20),随访期限为3～86个月.晚期死亡16例.随访中绝大多数患儿无症状,心功能和生长发育正常.结论 绝大部分早期出现症状的危重先心病可以在小婴儿期进行矫治,手术效果接近国际水平.不能进行一期矫治的可以先做姑息手术,改善缺氧、促进肺动脉发育,为以后的根治手术创造条件.     

Arterial Switch

A relatively large spectra of anatomic variations are found within the unifying features of discordant ventriculoarterial connections. Variants that lend themselves to anatomic repair by the arterial switch operation are discussed, these include transposition of the great arteries with intact ventricular septum (TGA IVS), TGA associated with a ventricular septal defect (TGA VSD), double-outlet right ventricle with subpulmonary VSD (DORV VSD), and TGA or DORV with VSD associated with coarctation. Double discordance with VSD, which is currently treated by double switch or Rastelli and atrial switch and which probably represents, in our department, the only remaining indication for atrial switch, is not discussed. Also, we exclude TGA associated with pulmonary stenosis, which is treated by Rastelli or REV operation.     

小于6个月先天性心脏病患儿的外科治疗

目的 回顾总结小于6个月婴幼儿先天性心脏病的外科治疗.方法 2000年1月～2006年12月,手术纠治年龄小于6个月先天性心脏病1831例.包括:室间隔缺损并肺动脉高压453例,完全性大动脉错位214例、法乐四联症119例、完全性肺静脉异位引流106例、右室双出口69例、肺动脉瓣狭窄65例,完全性房室通道55例、动脉导管未闭53例、主动脉缩窄伴室间隔缺损46例、肺动脉闭锁伴室间隔缺损36例、肺动脉闭锁室间隔完整型31例、主动脉弓中断24例、右室双出口伴肺动脉瓣下室间隔缺损22例、其他538例.根据不同病种采取相应的手术方法纠治.结果 手术死亡98例,手术死亡率5.35%.随着手术方法不断改进,手术总死亡率从2000年的8.23%降至2006年的4.91%.随访:完全性大动脉错位术后发生室间隔残余漏1例,肺动脉瓣上狭窄5例,主动脉瓣上狭窄2例,主动脉瓣下狭窄1例,其中再次手术4例,远期死亡1例;完全性肺静脉异位引流心内型4例在术后出现肺静脉回流梗阻,2例死亡,2例再次手术解除梗阻.早期室间隔缺损术后发生残余漏5例,分流量小,不需再次手术;其余病例随访不完整.结论 婴幼儿先天性心脏病的手术处理时间非常重要,危重复杂型先天性心脏病如不早期手术,将失去手术机会,增加术后危险性和死亡率.     

心室内隧道法治疗儿童右室双出口并主动脉瓣下室间隔缺损

目的　探讨右室双出口 (DORV)并主动脉瓣下室间隔缺损 (VSD)儿童采用心室内隧道法的手术效果。方法　对 9例DORV并主动脉瓣下VSD儿童采用心室内隧道法纠治 ,其中 5例有肺动脉瓣及瓣下狭窄 ,1例双腔右心室。体外循环下行心室内隧道法 ,经右心室切口用涤纶片修补VSD ,形成左心室至主动脉的内隧道 ,右心室与肺动脉相连。结果　 9例术后恢复均良好 ,超声心动图显示心室内隧道功能正常 ,无血流梗阻征象。结论　掌握好术式的适应证 ,心室内隧道法是纠治DORV并主动脉瓣下VSD的满意术式     

Tetralogy of Fallot With Restrictive Ventricular Septal Defect

We present a case of tetralogy of Fallot with progressive restriction of the ventricular septal defect (VSD) by tricuspid valve tissue. The report includes echocardiographic and catheter images of this rare complication of tetralogy of Fallot. Restriction of the VSD in tetralogy of Fallot is associated with increased surgical-related mortality.     

Outflow Tract Abnormalities in Atrioventricular Canal Malformations

Atrioventricular canal malformations are commonly regarded as being arrests of development of normal cardiac septation since their morphology strongly resembles the normal heart of Carnegie stages 14 through 18. Similarly, the spectrum of outflow tract abnormalities, which includes truncus arteriosus, transposition of the great arteries, double outlet right ventricle, and tetralogy of Fallot, has been interpreted as a developmental arrest because these malformations resemble the normal embryonic outflow tract in Carnegie stages 14 through 18, respectively. The causes of the developmental arrests in these two classes of malformations are unknown. Observation of an unusual autopsy case with features of both atrioventricular canal defect and tetralogy of Fallot prompted us to review the outflow tract morphology in 38 hearts with an atrioventricular canal malformation and two semilunar valves to determine if there was evidence to support the idea that both conditions may have the same pathogenesis. In all 38 hearts there was fibrous continuity between an anterior mitral leaflet and an aortic valve, which by anatomic definition means that no case had truncus arteriosus, transposition of the great arteries, or double outlet right ventricle. There were three cases with coarctation of the aorta, a lesion which arises when blood flow in the pulmonary trunk exceeds aortic flow during early development. There were four cases with pulmonary to aortic valve caliber ratios similar to those found in tetralogy of Fallot but the aortic-to-pulmonary valve angle relative to the heart base ranged over the full spectrum of angles seen in normal hearts and those with tetralogy of Fallot. Furthermore, this angle showed the same range of values for partial and complete canal defects, and did not correlate with patient age or ratio of pulmonary to aortic valve caliber. We conclude that the pathogenesis of the spectrum of outflow tract developmental arrests is different from that of atrioventricular canal malformations.     

完全性大动脉转位患儿外科术后早期并发症和近期随访

目的 探讨完全性大动脉转位(TGA)患儿术后早期并发症及近期预后情况.方法 对2008年至2009年行手术治疗的71例TGA患儿基本资料进行回顾性分析,并根据室间隔发育情况分为室间隔完整组(TGA/IVS)和室间隔缺损组(TGA/VSD),探讨术后早期并发症及近期预后情况.结果 术后早期出现低心输出量综合征7例(9.9%)、肺动脉狭窄12例(16.9%)、心律失常21例(29.6%)、膈肌麻痹6例(8.5%)、气道异常6例(8.5%)、下呼吸道分泌物培养细菌阳性13例(18.3%);术后院内死亡3例(4.2%).随访68例出院患儿,失访14例(20.6%),余54例(79.4%)随访时间(12.0±7.4)个月,其中4例(7.4%)死亡,3例(5.6%)因肺动脉狭窄需要介入治疗.可随访的57例患儿术后1年存活率87.7%.TGA/IVS组和TGA/VSD组在术后早期并发症和近期存活率方面差异均无统计学意义.结论 TGA患儿术后尽管可能出现一些并发症,但其预后良好,近期存活率较高.     

Plasma and right auricle concentrations of atrial natriuretic polypeptide in children with cardiac diseases

To investigate the atrial natriuretic polypeptide (ANP) levels in congenital heart diseases, we measured plasma immunoreactive ANP (ir-ANP) in 29 patients with left-to-righ shunt, and right auricle ir-ANP in 25 patients who underwent operation. The levels of ir-ANP in the pulmonary artery correlated with that in the femoral vein (r=0.95, P<0.001), mean pulmonary arterial pressure (r=0.74, P<0.001) and right atrial pressure (r=0.53, P<0.01). The right auricle ir-ANP level was high in patients with heart failure combined with pressure or volume overload of the right atrium, as observed in tricuspid atresia, complete endocardial cushion defect, and total anomalous pulmonary venous drainage. These results suggest that the production of ANP in the atrium increases as a compensatory or secondary response to persistent release of ANP into the circulation in cardiac diseases.Abbreviations ANP atrial natriuretic polypeptide - ir-ANP immunoreactive ANP - -hANP alpha human ANP - VSD ventricular septal defect - ASD atrial septal defect - PDA patent ductus arteriosus - TOF tetralogy of Fallot - DORV double outlet right ventricle - TAPVD total anomalous pulmonary venous drainage - cECD complete endocardial cushion defect - TA tricuspid atresia - MRAP mean right atrial pressure - MPAP mean pulmonary arterial pressure - Qp/Qs pulmonary-to-systemic blood flow ratio     

Bjork Surgery for Tricuspid Atresia—Revisited

We present a 19-year-old college student completely asymptomatic who underwent successful Bjork surgery (right atrium-to-right ventricle connection) in infancy with excellent results. Surgical approach for tricuspid atresia is done in three stages. Blalock Tuassig shunt soon after birth or pulmonary artery band depending on the size of the ventricular septal defect (VSD) and the main pulmonary artery, Glenn surgery (bidirectional cavopulmonary shunt) at 3–6 months of age, and Fontan surgery at 2–3 years age. There are many short- and long-term complications after Fontan surgery and patients require multiple medications throughout life. For tricuspid atresia with normally related great arteries, large VSD, and normal pulmonary valve, Bjork surgery offers the advantages of right ventricular growth, biventricular function, and good outcome without any medications.     

Surgical management of congenital heart defects: Current trends

Surgical treatment for congenital heart disease has become available over the last five decades. Palliative procedures have been designed to improve physiologic abnormalities, for example systemic artery (or venous) to pulmonary artery shunts of various types to increase the pulmonary blood flow, pulmonary artery constriction (banding) to decrease the pulmonary blood flow, and surgical or transcatheter atrial septostomy to augment intracardiac mixing. These can be performed with a low mortality. The majority of congenital heart defects can be corrected by open heart surgical techniques; some require prior palliation and others can be operated without prior palliative surgery. Recent surgical advances include early total surgical correction for tetralogy of Fallot, arterial switch procedure for transposition of the great arteries, Fontan operation and its modifications for tricuspid atresia and single ventricle, new operations for hypoplastic left heart syndrome, newer prosthetic valves, myocardial preservation and cardiac transplantation.     

不伴体-肺动脉侧支和动脉导管未闭的婴幼儿肺血减少型复杂先天性心脏病的肺组织病理改变

目的：婴幼儿肺发育过程中,肺循环血量的改变影响肺外周血管的发育,导致肺组织的结构出现病理性改变。该研究利用形态半定量分析方法,了解不伴体-肺动脉侧支和动脉导管未闭的肺血减少型复杂先天性心脏病的婴幼儿肺细小动脉和肺泡间质的病理改变特点。方法选择有肺组织病理切片资料的56例婴幼儿不伴体-肺动脉侧支和动脉导管未闭的肺血减少型复杂先心病患儿作为病变组,年龄4～36月,包括法洛四联症34例和合并肺动脉狭窄的右室双出口7例、单心室9例、三尖瓣闭锁4例和完全性心内膜垫缺损2例。5例年龄4～18月非心、肺源性疾病死亡的婴幼儿作为对照组。采用显微镜形态半定量分析技术测量肺细小动脉内、外弹力板间距,计算平均中膜厚度百分比（MT%）和中膜面积百分比（MS%）,单位面积肺细小动脉数目（APSC）,单位面积肺泡数（MAN）,平均肺泡内衬间隔(MLI),肺实质占同切片肺总面积比例(PPA%)和单位面积肺泡数/肺细小动脉数比（AAR）。结果：先心病组的MT%,MS%,APSC和MAN降低,肺细小动脉内弹力板间距、AAR和MLI升高,与对照组比较差异有显著性,其余参数差异没有显著性。先心病组多数肺细小动脉形状不规则。结论：不伴体-肺动脉侧支和动脉导管未闭的肺血减少型复杂先心病的婴幼儿外周肺细小动脉中膜变薄、管腔扩张,单位面积肺细小动脉数目和单位面积肺泡数目减少,肺泡内径增大。     

Surgical treatment of congenital heart malformations. Indications and surgical management (author's transl)]

Congenital malformations of the heart have to be expected in approximately 0,8% of all newborns. The majority of them needs surgical treatment and can be corrected anatomically with a low operative risk (atrial and ventricular septal defects, patent ductus arteriosus, coarctation, valvular aortic and pulmonary stenosis etc.). Surgical repair of complex anomalies includes either palliative or functionally corrective procedures and has a much higher operative and early postoperative mortality (transposition of the great arteries, tetralogy of Fallot, tricuspid atresia etc.). Surgery becomes urgent in babies suffering from congestive heart failure and/or progressive severe hypoxia during the first months of life. Early total surgical repair or primary palliation and two-stage correction depends on the kind of anomaly and has to be selected individually. Hemodynamical classification, general distribution and surgical considerations of the most common congenital malformations of the heart are described.     

先天性心脏病术后残余室间隔缺损介入治疗及中长期随访

目的 评价先天性心脏病（先心病）术后残余室间隔缺损（VSD）介入治疗的效果及中长期随访结果。 方法 回顾性分析2002年9月至2014年5月复旦大学附属儿科医院介入治疗的先心病术后残余VSD患者的临床资料,对辅助检查、介入治疗情况和随访行描述性分析。结果 21例患者进入分析,男11例,女10例,平均年龄8.8（2.7～21）岁,平均体重26.3（10.5～53.5） kg。13例为VSD修补术后残余漏,其中2例合并主动脉弓缩窄修补术后再缩窄;5例为法洛四联症（TOF）术后残余VSD,其中1例合并频发室性早搏及短阵室性心动过速;2例为右室双出口术后残余VSD;1例为完全性大动脉转位术后残余VSD。介入治疗距离外科手术时间为11～80个月。①介入治疗中左心室造影测得VSD右心室面直径为(3.73±1.56) mm,4例右室面有多处分流,1例为左室-右房瘘;肺循环与体循环血流量之比为1.53±0.23;无中度以上肺动脉高压者。②21例患者中,1例介入治疗中建立轨道时反复发生Ⅲ度房室传导阻滞而放弃堵闭行外科手术治疗;20例（95.2%）封堵成功,其中1例应用2个堵闭器。1例合并频发室性早搏及短阵室性心动过速患儿同时行射频消融治疗成功;2例合并主动脉弓再缩窄患儿经球囊扩张后缩窄解除。介入治疗中无不良事件发生。介入治疗后即刻造影和经胸超声心动图显示少量残余分流3例。ECG均无异常发现。③20例随访1～79个月,均无明显临床症状。2例在1年随访中ECG分别出现不完全性右束支传导阻滞及Ⅰ度房室传导阻滞,继续随访6~12个月无改变;2/3例即刻有残余分流患儿在随访中残余分流消失,1例介入治疗后20个月时仍有残余分流3.4 mm,心腔大小和功能正常;无新发的三尖瓣或主动脉瓣反流,3例堵闭前存在的中重度三尖瓣反流在随访中反流均为轻度;未见堵闭器移位、脱落或血栓形成。结论 经导管堵闭介入治疗先心病手术后残余VSD是一项安全、有效和易行的方法,介入治疗后即刻和中长期随访效果好,应成为此类患儿首选的治疗方法。     

A case of severe Ebstein's anomaly with incompetent pulmonary valve

A case of Ebstein's anomaly with functional pulmonary atresia diagnosed in utero is presented. The diagnosis was confirmed by postnatal echocardiographic, angiographic, and postmortem pathologic findings. On echocardiography the septal leaflet of the tricuspid valve was displaced towards the right ventricular apex. The tricuspid valve was moderately regurgitant and the arterial duct was patent. Continuous wave or color Doppler revealed serious reduction in forward flow from right ventricle through the pulmonary arteries; however, massive pulmonary regurgitation was observed. Pulmonary circulation was dependent on the ductal flow due to functional pulmonary atresia. Angiography revealed the massively enlarged right atrium, the absence of forward flow through the tricuspid valve, transfer of contrast material through the atrial septal defect to the left atrium, and the retrograde inflow of the pulmonary arteries from the aorta via the patent arterial duct. Ebstein's anomaly accompanied by functional pulmonary atresia is very rare. The fetal and neonatal presentation of this anomaly is associated with poor outcome.     

Boy:girl ratio in children born with different forms of cardiac malformation: A population-based study

Summary The boy: girl ratio was calculated for all live births with cardiac malformation in Bohemia (population 6.3 million) from 1977–1984. Complete coverage of all deceased children in Bohemia by necropsy and of all patients with heart disease by our center enabled us to collect reliable data. Of 4409 children born with a heart defect, there were 2296 boys and 2113 girls, a ratio of 1.09: 1. In the total population of 664,218 children born during the same period of time, the ratio was 1.06:1. A higher proportion of boys was found with double outlet right ventricle (2.68:1), hypoplastic left heart (2.25:1), transposition of the great arteries (2.11:1), aortic stenosis (1.95:1), pulmonary atresia (1.55:1), tricuspid atresia (1.45:1), coarctation of the aorta (1.30:1), and corrected transposition of the great arteries (1.25:1). There were significantly more girls than boys with persistent ductus arteriosus (1:1.66), Ebstein's anomaly of the tricuspid valve (1:1.57), truncus arteriosus (1:1.22), atrioventricular septal defect (1:1.17), and tetralogy of Fallot (1:1.12). The difference in sex prevalence in the remaining heart defects was less than 10%.     

Unique variant of Taussig-Bing heart: Double-outlet right ventricle with double ventricular septal defects and double overriding of great arteries

Summary A cyanotic, tachypneic newborn was diagnosed to have double-outlet right ventricle of the Taussig-Bing type. Cardiac failure did not respond to medical treatment or surgical palliation. Postmortem examination revealed two ventricular septal defects (VSDs), one a malalignment VSD in the membranous septum and adjacent tissue and the other in the anterosuperior part of the muscular septum. The D-malposed aortic root emerged mainly from the right ventricle, with aortic-mitral continuity. The larger posterolateral pulmonary root arose almost entirely from the right ventricle, confluent with the muscular VSD, and unrelated to the mitral valve. Its right ventricular aspect was obstructed by hypertrophied infundibulum.This unique malformation of the heart functioned as a double-outlet right ventricle of Taussig-Bing type. In addition, however, the malformation had elements of tetralogy of Fallot because of the malaligned VSD and hypertrophied conal musculature (although pulmonary flow was excessive), and also of complete transposition of the great arteries because of the arrangements of the two VSDs, which favored aortic flow from right ventricle and pulmonary blood flow from the left ventricle. Thus, a single heart presented similarities to three anatomic and functional entities.     

Dysplasia of AV valve in complete AV canal with tetralogy of Fallot: Surgical repair

Summary A five-year-old girl underwent surgery for tetralogy of Fallot and complete persistent atrioventricular (AV) canal. At operation, severe dysplasia of the right side of the common AV valve was found, with an accessory orifice and muscularization of a leaflet. Repair was carried out by closing the AV defect, through a combined right atrial and right ventricular approach, by a pericardial patch with a large anterior extension. Closure of the resulting mitral cleft, resection of anomalous muscle bundles and pulmonary valvotomy were also performed. Postoperatively the patient presented severe tricuspid regurgitation. Repair of the valve was deemed impossible and valve replacement was considered to have a very high risk due to the age of the patient, the small size of the right ventricle, and the previous repair of the AV defect. A modified Fontan operation was, therefore, considered preferable and successfully carried out. After the second operation, mediastinal infection developed and was successfully treated by local irrigation of diluted providone-iodine solution.     

Cardiopulmonary performance during exercise in patients with repaired tetralogy of Fallot with absent pulmonary valve

In patients with tetralogy of Fallot and absent pulmonary valve, the dilated pulmonary arteries sometimes result in bronchial compression and pulmonary symptoms due to airway obstruction, recurrent pulmonary infection, and development of bronchiectasis. After complete intracardiac repair, residual pulmonary disease may be expected to result in impaired cardiopulmonary performance during exercise. To assess this hypothesis, nine patients with tetralogy of Fallot and absent pulmonary valve underwent exercise testing and were compared to 38 patients with tetralogy of Fallot repaired using a transannular patch. All patients were exercied to maximum volition using a 1 minute incremental treadmill protocol with monitoring of pulmonary functions and expired gases. Maximal heart rate, maximal oxygen consumption, oxygen consumption at anaerobic threshold, and maximal respiratory exchange ratio were similar for the two groups. There was no significant difference for ventilation and gas exchange parameters at rest or at maximal exercise, and values for both groups were below the predicted normal for healthy subjects. Breathing reserve, however, did tend to be some-what lower in the group with tetralogy of Fallot with absent pulmonary valve. In summary, despite significant preoperative symptoms, cardiopulmonary performance during exercise in patients with tetralogy of Fallot and absent pulmonary valve is similar to patients with tetralogy of Fallot repaired with a transannular patch.