Coexistence of Three Rare Congenital Heart Defects in a Single Patient

The unique anatomy, physiology, and surgical repair of a patient with features of three rare congenital heart defects (total anomalous pulmonary venous return to the coronary sinus, cor triatriatum, and unroofed coronary sinus with persistent left superior vena cava to the left atrium) is described. Analysis of this case suggests that these three conditions are linked in that they all may result as a consequence of a defect in the same embryologic process (i.e., incorporation of the pulmonary venous confluence into the left atrium).     

Cor triatriatum sinistrum: one institution's 28-year experience

Summary Twelve patients with cor triatriatum sinistrum were treated over a 28-year period. Their ages ranged from 1 month to 7.5 years. Congestive heart failure was the most common presentation. Cardiac catheterization was performed on six of the 12 patients and a correct diagnosis of cor triatriatum was made on angiography in only four of the six. Of the remaining six patients, three were diagnosed as having cor triatriatum by echocardiography and three by autopsy. Echocardiography is now considered to be the diagnostic modality of choice in our institution. Seven patients were operated on and five died prior to diagnosis or treatment. Associated cardiac anomalies included persistent left superior vena cava, atrial septal defects, coarctation of the aorta, and total anomalous pulmonary venous drainage. A right atrial, transseptal approach to the common pulmonary chamber and excision of the left atrial membrane was found to be the treatment of choice and was used in six of the seven patients operated on. One patient died in the postoperative period. Thus, cor triatriatum sinistrum, a rare and potentially lethal congential cardiac anomaly, can be diagnosed by echocardiography and successfully treated surgically with a low operative mortality.     

单纯性完全型肺静脉异位引流产前8例超声心动图诊断

摘要 目的 探讨胎儿单纯性完全型肺静脉异位引流（TAPVC）的产前超声心动图特点,提高对本病的产前诊断准确率。方法 回顾性分析2011年5月至2014年2月经新生儿超声心动图、手术或尸解证实的8例单纯性TAPVC的胎儿期超声心动图检查结果,总结超声心动图特征。结果 8例单纯性TAPVC胎儿中,心下型2例,心内型1例,心上型5例,5例存在垂直静脉或共同肺静脉腔与垂直静脉连接处梗阻;8例胎儿中,引产1例（心下型）,余7例均于出生后行手术治疗,其中1例术后死亡（心下型）,6例均恢复良好。TAPVC胎儿超声心动图特征为：①正常的左心房形态消失,呈圆形或椭圆形,左心房光滑并多变小,在孕后期较为明显;②降主动脉与左心房间距离明显增大,多数在左心房后方可见一异常的腔隙（即共同肺静脉腔）,可显示左、右侧上升（心上型）或下降（心下型）的垂直静脉;③妊娠早期左、右心系统比值早期多正常,但妊娠中、晚期（孕26周后）可出现右心系统轻度扩大;④引流入冠状静脉窦时（心内型）,冠状静脉窦可有扩张;引流入上腔静脉时（心上型）,上腔静脉扩张;引流入肝内血管时（心下型）,肝内血管可有不同程度的扩张;⑤彩色多普勒可显示引流途径及是否合并垂直静脉梗阻。结论 在孕早期左、右心系统比值正常时,TAPVC易被漏诊及误诊,应注意多角度、多切面扫查,孕晚期超声心动图检查可减少漏诊。     

Cor triatriatum sinister with dilated coronary sinus from persistent left superior vena cava: a novel operative approach

Persistent left superior vena cava is known to be associated with cor triatriatum. The persistent left superior vena cava drains into a dilated coronary sinus and can cause left atrial outflow obstruction by impinging on the posterior wall of the left atrium. Residual obstruction can persist, even after surgical resection of the cor triatriatum membrane. We describe a novel surgical treatment in a patient with cor triatriatum and persistent left superior vena cava.     

Unusual ``Midseptal' Sinus Venosus Defect

An unusual case of an interatrial communication similar to a sinus venosus defect associated with an overriding pulmonary venous chamber is reported. There was no direct connection of the pulmonary venous system with either the superior vena cava or the low right atrium, as is usual with sinus venosus defects. This defect may represent the result of a sinus venosus defect associated with cor triatriatum.     

Pathogenesis of persistent left superior vena cava with a coronary sinus connection

The basis for persistence of the left superior vena cava (LSVC), usually associated with cardiac malformations, is poorly understood. We examined 351 staged, serially sectioned human embryos in the Carnegie Embryological Collection and 1208 specimens with congenital cardiovascular malformations in the Pathology Collection of the Johns Hopkins Hospital. A standardized questionnaire was answered for each embryo and autopsy case and a computer program was employed to tabulate concurrent anatomic features. In the normal embryos a symmetric venous system appeared with the heart tube at Carnegie stage 9; the sinoatrial junction translocated to the right and the relationship of the coronary sinus to the LSVC was established by stage 12. The LSVC was patent through stage 20 and subsequently underwent luminal obliteration by compression between the left atrium and the hilum of the left lung. Among the 1208 hearts with a congenital abnormality, 104 (9%) had a persistent LSVC with a coronary sinus connection. Statistically, significantly more frequent associations were found between persistent LSVC and atrioventricular canal defects, cor triatriatum, and mitral atresia and a significantly less frequent association was observed between persistent LSVC and atrial septal defect or patent foramen ovale as a primary defect. The normally late embryonic obliteration of the LSVC suggests that its persistence would be secondary to reduce cardiac compression or to blood flow redistribution at an early stage, and the malformations associated with persistent LSVC support that view. Identification of a persistent left superior vena cava with coronary sinus connection should suggest an associated malformation, especially atrioventricular canal, cor triatriatum, or mitral atresia.     

Total anomalous pulmonary venous connection

Ten cases of total anomalous pulmonary venous connection, all presenting at or below the age of eight weeks, are presented: three below the diaphragm, two to the coronary sinus, one to the right atrium, three to the left vertical vein, and one to the right superior vena cava. Six patients had other cardiac anomalies, and surgical mortality represented 75%. A review of the subject is presented.     

Right-sided superior vena cava draining into the left atrium: a rare anomaly of systemic venous return

The most commonly encountered systemic thoracic venous anomaly is a persistent left superior vena cava that drains into the right atrium via the coronary sinus. A much rarer systemic venous anomaly is that of isolated anomalous drainage of a normally positioned right superior vena cava (RSVC) into the left atrium (LA). This has been reported in approximately 20 patients with the diagnosis usually being made by cardiac catheterization. We report the case of a toddler with asymptomatic hypoxemia resulting from anomalous drainage of a normal RSVC into his LA. This was diagnosed non-invasively by contrast-enhanced chest CT.     

Diagnostic features and pitfalls in the two-dimensional echocardiographic evaluation of a child with cor triatriatum

Summary Two-dimensional echocardiography has been successfully used to diagnose cor triatriatum in adults and children, and surgical referral of these patients has been undertaken without preceding cardiac catheterization and angiography. A child with cor triatriatum demonstrated by two-dimensional echocardiography was directly referred for surgical resection. Despite thorough preoperative echocardiographic examination and direct intraoperative inspection of the posterior left atrial chamber, partial anomalous right pulmonary venous drainage was not diagnosed until the postoperative period. The failure to detect this uncommon associated anomaly underscores the limitations of relying on two-dimensional echocardiography as the sole preoperative method of evaluation.     

Pathogenesis of Persistent Left Superior Vena Cava with a Coronary Sinus Connection

The basis for persistence of the left superior vena cava (LSVC), usually associated with cardiac malformations, is poorly understood. We examined 351 staged, serially sectioned human embryos in the Carnegie Embryological Collection and 1208 specimens with congenital cardiovascular malformations in the Pathology Collection of the Johns Hopkins Hospital. A standardized questionnaire was answered for each embryo and autopsy case and a computer program was employed to tabulate concurrent anatomic features. In the normal embryos a symmetric venous system appeared with the heart tube at Carnegie stage 9; the sinoatrial junction translocated to the right and the relationship of the coronary sinus to the LSVC was established by stage 12. The LSVC was patent through stage 20 and subsequently underwent luminal obliteration by compression between the left atrium and the hilum of the left lung. Among the 1208 hearts with a congenital abnormality, 104 (9%) had a persistent LSVC with a coronary sinus connection. Statistically, significantly more frequent associations were found between persistent LSVC and atrioventricular canal defects, cor triatriatum, and mitral atresia and a significantly less frequent association was observed between persistent LSVC and atrial septal defect or patent foramen ovale as a primary defect. The normally late embryonic obliteration of the LSVC suggests that its persistence would be secondary to reduce cardiac compression or to blood flow redistribution at an early stage, and the malformations associated with persistent LSVC support that view. Identification of a persistent left superior vena cava with coronary sinus connection should suggest an associated malformation, especially atrioventricular canal, cor trialriatum, or mitral atresia.     

Unusual form of total anomalous pulmonary venous connection with double drainage

A patient with complex congenital heart disease was diagnosed by two-dimensional echocardiography. Total anomalous pulmonary venous connection (TAPVC) was suspected because of the results of two-dimensional echocardiography, but the exact anatomy was delineated by cineangiocardiography as an unusual form of TAPVC with double drainage or connections to the left superior vena cava at nearly the same level. The clinical implications and possible embryogenesis for such a condition are discussed.     

Cyanosis in a 9-month-old child after repair of total anomalous pulmonary venous return

A 9-month-old girl presented with cyanosis after correction of total anomalous pulmonary venous return (TAPVR) to the coronary sinus in the neonatal period. During corrective surgery, the right superior vena cava (RSVC) was damaged and re-anastomosed to the right atrium. Echocardiography showed increased flow velocity in the pulmonary venous confluence. Therefore, pulmonary venous obstruction was suspected. However, subsequent cardiac MRI revealed a stenosed RSVC as well as a dilated left superior vena cava (LSVC) draining from the left innominate vein into the pulmonary venous confluence. The re-recruited LSVC drained deoxygenated blood into the systemic circulation, causing cyanosis. After uncomplicated placement of a stent in the narrowed RSVC and occlusion of the LSVC, transcutaneous saturations normalised immediately.     

Cor Triatriatum with Unroofed Coronary Sinus and Persistent Left Superior Vena Cava Associated with Atrial Tachycardia

A 2-year-old girl with cor triatriatum with unroofed coronary sinus and persistent left superior vena cava underwent preoperative radiofrequency catheter ablation for atrial tachycardia attack that developed after admission to our hospital. The procedure was not successful. Cryoablation was successfully performed during corrective surgery. Cutting back from the coronary sinus orifice, resection of the fibrous tissue above the mitral valvular orifice, closure of the excised fossa ovalis and coronary sinus orifice with a Gore-Tex patch, and ligation of the persistent left superior vena cava resulted in an excellent hemodynamic outcome. At 2-year follow-up, the patient was free from tachycardia attack.     

Cerebral venous sinuses thrombosis in an infant with supramitral obstructive membrane associated with partial anomalous pulmonary venous return

Cerebral venous thrombosis is quite rare in newborn infants, but probably its incidence is not well evaluated because clinical signs and cerebral echocardiography are not specific. We report the case of an newborn infant with massive cerebral venous thrombosis associated with heart malformation: supramitral ring and partial anomalous pulmonary venous connection in the superior vena cava.     

Cor triatriatum masked by primary pulmonary hypertension

Summary In a 17-month-old boy with clinical signs of right heart failure, the diagnosis of primary pulmonary hypertension was made, based on cardiac catheterization findings with high pulmonary arterial pressure and normal pulmonary wedge pressure although two-dimensional echocardiography demonstrated a left atrial membrane. Postmortem examination confirmed a left atrial membrane (cor triatriatum), and the microscopic examination revealed the histological pattern of primary pulmonary hypertension. Due to reduced pulmonary blood flow, pulmonary venous obstruction was masked and could not be assessed by measuring pulmonary wedge pressure.     

Persistent left superior vena cava: Experience of a tertiary health‐care center

Background: The aim of this study was to assess the prevalence of persistent left superior vena cava (PLSVC) in patients with all types of congenital heart defects and to determine the congenital heart anomalies accompanying PLSVC. Methods: The present study is based on a retrospective review of 1205 children who consecutively underwent cardiac catheterization from 2000 to 2007. In order to determine the existence of PLSVC, all the subjects routinely underwent superior vena cava (SVC) injection during angiography at the catheter laboratory of the study center. Results: The prevalence of PLSVC was computed to be 6.1% for the present study population. Transthoracic echocardiography was able to detect PLSVC in 32 children (2.6%) whereas angiography diagnosed PLSVC in 74 children (6.1%). The mean age of the patients with PLSVC was 40.09 ± 50.21 months. A communication between the right and left SVC was determined in 27% of the children who were diagnosed with PLSVC after angiography was performed (20 out of 74). A statistically significant association was present between PLSVC and other congenital cardiac anomalies, including ventricular septal defect (n= 42, 56.8%), atrial septal defect (n= 31, 41.9%), pulmonary stenosis (n= 19, 25.7%), atrioventricular septal defect (n= 10, 13.5%), patent ductus arteriosus (n= 6, 8.1%) and cor triatriatum (n= 3, 4.1%). Conclusion: Transthoracic echocardiography usually visualizes dilated coronary sinus in association with PLSVC. However, SVC injection should be performed in patients undergoing angiography so that morbidity and mortality related with persistent left superior vena cava can be avoided during cardiovascular surgery.     

Double total anomalous pulmonary venous connection

We present a newborn infant with right atrial isomerism, complex congenital heart malformation and anomalous pulmonary venous connection, reliably diagnosed by 2-D Doppler color echocardiography. The infant had no significant obstetric antecedents. The neonatal clinical picture included cyanosis, heart murmur and respiratory distress. The infant was treated with prostaglandin from the age of 24 hours until his death after surgery. The 2-D echo Doppler color flow mapping showed findings that suggested right atrial isomerism, severe left ventricular hypoplasia, pulmonary atresia and ductus arteriosus. The pulmonary veins flowed together to a posterior cardiac chamber from which an emissary vertical venous vessel connected with a left superior aneurysmal sack. Two venous channels emerged from this sack: one connecting to the innominate vein and the other to the atrium. The malformations were confirmed by cardiac catheterization. On the sixth day of life, the patient underwent anastomosis between the posterior venous chamber with the atrium, a modified Blalock-Taussig shunt implant, and ductus closure but died during surgery. The association between complex cardiac anomalies and uncommon obstructive total anomalous pulmonary venous connection in the context of right atrial isomerism is lethal and few neonates survive surgical repair. Two-dimensional echo color flow Doppler is a reliable diagnostic technique and an indispensable guide in angiography.     

Functional total anomalous pulmonary venous connection via levoatriocardinal vein

We report a fetal case of double outlet right ventricle, mitral atresia, and intact atrial septum. Although the pulmonary veins were connected to the left atrium, pulmonary venous blood drained into the right superior vena cava via the stenotic levoatriocardinal vein (LACV), which resulted in a circulation resembling total anomalous pulmonary venous connection (TAPVC) with pulmonary venous obstruction. Since the pulmonary veins were connected to both the stenotic LACV and the “dead‐end” left atrium, the pulmonary venous flow had a to‐and‐fro pattern along with atrial relaxation and contraction. Postnatal echocardiography and computed tomography confirmed the diagnosis of normally connected but anomalously draining pulmonary veins via the LACV. Surgical creation of an atrial septal defect on the day of birth successfully relieved pulmonary venous obstruction. Normally connected but anomalously draining pulmonary veins via the LACV should be considered for TAPVC differential diagnosis in fetuses with a left‐side heart obstruction.     

Morfologia kliniczna wad spływów żył płucnych i systemowych

Abnormal pulmonary and systemic venous return is a heterogeneous group of congenital heart defects. Part of them are incidental findings, even in adulthood, and they have little haemodynamic significance. The other ones are isolated anomalies or they associate different cardiac malformations. In those cases they need to be treated in newborns or infants. Normal venous development is a process of progressive appearance of paired venous structures, development of anastomoses between them and selective regression of certain segments. Initially, three major veins drain into each horn of sinus venosus: vitelline vein, common cardinal vein and umbilical vein. Their transformations lead to formation of caval veins, coronary sinus and part of the atrial wall. A left-sided superior vena cava draining into the coronary sinus is the most common systemic venous anomaly. Nevertheless, the most common venous malformation involving the inferior vena cava is absence of its suprahepatic segment, with azygos vein continuation. The development of the pulmonary venous system is of significance, considering the co-existence of anomalies of pulmonary and systemic venous drainage. Anomalous pulmonary venous connection take various forms. In morphological point of view partial and total anomalous pulmonary venous return are known. Each of them is classified as a supracardiac, cardiac, infradiaphragmatic or infracardiac and mixed type. The knowledge of embryology and anatomy is helpful in understanding of genesis and haemodynamics of above malformations, as well as in therapy decisions.     

Isolated Total Anomalous Systemic Venous Drainage in an Adult: Case Report

Total anomalous systemic venous drainage is a rare form of congenital heart disease. All the systemic venous flow from the body (i.e., from the superior vena cava, inferior vena cava, and coronary sinus) drains abnormally into the left atrium. This condition requires the presence of a left-to-right shunt (atrial septal defect, patent ductus arteriosus, or ventricular septal defect) to allow the systemic venous return to reach the pulmonary circulation. This disorder may be associated with heterotaxy syndromes. This report describes a patient with unique total anomalous systemic venous drainage that was successfully corrected surgically.