Common Pulmonary Vein Atresia Research Articles

Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.

Left-right laterality disorders are a heterogeneous group of disorders caused by an altered position or orientation of the thoracic and intra-abdominal organs and vasculature across the left-right axis. They mainly include situs inversus and heterotaxy. Those disorders are complicated by cardiovascular abnormalities significantly more frequently than situs solitus. In this study, 16 patients with a fetal diagnosis of laterality disorder with congenital heart defects (CHD) were evaluated with a single nucleotide polymorphism array(SNP-arry) combined with whole-exome sequencing (WES). Although the diagnostic rate of copynumber variations was 0 and the diagnostic rate of WES was 6.3% (1/16), the likely pathogenic gene DNAH11 and the candidate gene OFD1 were ultimately identified. In addition, novel compound heterozygous mutations in the DNAH11 gene and novel hemizygous variants in the OFD1 gene were found. Among the combined CHD, a single atrium/single ventricle had the highest incidence (50%, 8/16), followed by atrioventricular septal defects (37.5%, 6/16). Notably, two rare cases of common pulmonary vein atresia (CPVA) were also found on autopsy. This study identified the types of CHD with a high incidence in patients with laterality disorders. It is clear that WES is an effective tool for diagnosing laterality disorders and can play an important role in future research.

A rare case of congenital heart disease: common pulmonary vein atresia

Common pulmonary vein atresia is a rare congenital heart disease, in which the venous return from the lungs flows through the four pulmonary veins into the cavity behind them without connection to the heart chambers. The article presents a clinical case of a newborn child with this malformation. Computed tomography showed a lack of pulmonary vein drainage in a typical location as well as the presence of a common venous collector. On the basis of the data obtained we made a correct diagnosis.

Common pulmonary vein atresia.

A 4-hour-old infant with profound cyanosis on an alprostadil infusion was urgently transferred to Rady Children's Hospital with suspected CHD. Upon arrival, urgent echocardiography was performed but could not confirm the presence of discrete pulmonary veins or pulmonary venous drainage. Given the difficulty in delineating the anatomy, a cardiac CT scan was performed and demonstrated a nearly atretic common pulmonary vein with multiple small collaterals that drained to systemic veins. Due to the high risk of mortality associated with operative repair, the decision was made to proceed with compassionate withdrawal of care. The described anatomy of common pulmonary vein atresia remains rare, and to our knowledge, fewer than 40 cases have been reported in the literature. Albeit rare, common pulmonary vein atresia should be considered in the differential diagnosis of a severely cyanotic neonate.

Comparison of fetal echocardiogram with fetal cardiac autopsy findings in fetuses with congenital heart disease

Objective Although studies have compared fetal echo results with autopsy findings, investigations that compared multiple categories of congenital heart disease (CHD) are lacking. This study, therefore, aimed to compare fetal echocardiographic diagnoses with cardiac autopsy findings and evaluate the diagnostic accuracy of fetal echocardiography (FE). Methods One hundred seventy-one specimens from fetuses diagnosed with CHD were collected after termination of pregnancy, and fetal autopsies were performed. FE and autopsy diagnoses were compared and the degree of their correspondence was categorized as “complete agreement” (FE results were in accordance with autopsy findings), “minor discrepancies” (autopsies verified the main FE diagnoses but added and/or revised some minor information), or “discordance” (autopsy findings were different from the primary diagnoses of FE). Results The “complete agreement” group accounted for 87.1% (149/171) of the total specimens. In 11.7% (20/171) of cases, autopsies disclosed new deformities and/or revised some echo results (minor discrepancies group). Minor abnormalities were frequently embodied in small septal defects and vascular malformations. A rare malformation of common pulmonary vein atresia was confirmed by autopsy in two fetuses, but both were misdiagnosed by FE (discordance group). Conclusions Fetal echocardiographic diagnoses were mostly consistent with autopsy findings. The diagnostic discrepancies mainly consisted of rare cases and minor abnormalities missed or misdiagnosed by FE. Autopsies may help confirm, modify, or add information to prenatal echo results. They may also help sonographers have a better understanding of the anatomic structures of CHD, especially for rare lesions, which could further improve the diagnostic accuracy and integrity of FE.

Supra-Cardiac Total Anomalous Pulmonary Venous Connection via Rare Right-Sided Vertical Vein

A Total Anomalous Pulmonary Venous Connection (TAPVC) is an uncommon congenital anomaly which occurs as result of defective development or early atresia of common pulmonary vein. TAPVC is categorized into four with supracardiac variety occurring most frequently. Common pulmonary vein anomaly results in the retention of cardinal or umbilico-vitelline drainage systems. If cardinal venous system persists, it provides channels to the innominate or azygous vein, Superior Vena Cava (SVC). This case series reports two cases of supracardiac TAPVC draining into SVC via right-sided vertical vein. Careful evaluation before surgical repair is vital for such complex cardiac anomalies.

Complete cor triatriatum sinister misdiagnosed as atresia of the common pulmonary vein on prenatal ultrasound

Cor triatriatum sinister (CTS) is characterized by the presence of a fibromuscular membrane dividing the left atrium into two chambers. The postero-superior and proximal chamber of CTS receives blood from four pulmonary veins, whereas the antero-inferior and distal chamber (true left atrium) connects to mitral valve and left atrial appendage (LAA). CTS can be classified into two types, complete and partial CTS. We reported a case of fetal autopsy-confirmed complete CTS that had been misdiagnosed as atresia of the common pulmonary vein on prenatal ultrasound. At 25 gestational weeks, fetal sonography revealed that the pulmonary venous angle on the top of the left atrium disappeared and no vertical vein was found around the common pulmonary venous cava formed by bilateral pulmonary veins. Thus, atresia of the common pulmonary venous cava was considered. Fetal autopsy after induction further confirmed the case was complete CTS. Key words: Cor triatriatum; Ultrasonography, prenatal; Pulmonary veins; Vascular malformations; Diagnostic errors

Analysis of cardiovascular misinterpretations of prenatal ultrasound diagnosis in fetuses with heterotaxia syndrome

Objective To explore the correlation between the cardiovascular ultrasound results and pathological findings of heterotaxia syndrome, analyze the cause of the difference, and improve the prenatal cardiovascular diagnostic accuracy of heterotaxia syndrome by ultrasound. Methods According to fetal autopsy or vessel casting, the ultrasound results of 37 fetuses with heterotaxia syndrome were retrospectively analyzed. The cardiovascular misinterpretations of ultrasound were summarized in the venous-atrial segment, atrial-ventricular segment and ventricular-arterial segment. Results ①Thirty fetuses underwent autopsy and seven fetuses vessel casting were included, there were 10 fetuses with left atrial isomerism and 27 fetuses with right atrial isomerism.Only one left isomerism was misdiagnosed and the diagnostic accuracy of atrial isomerism by ultrasound was 97.3%. ②Thirty-seven fetuses with heterotaxia syndrome included 206 cardiovascular malformations. Twenty-seven misinterpretations of ultrasound were found and the rate of cardiovascular misinterpretations was 13.1%. ③The cardiovascular misinterpretations of left atrial isomerism involved 1 secondary atrial septal defect in the atrial-ventricular segment and 1 aortic atresia, 2 anomalous position of arterial duct in the ventricular-arterial segment. ④The cardiovascular misinterpretations of right atrial isomerism in the venous-atrial segment included 4 common pulmonary vein atresia, 3 anomalous hepatic venous connection, 3 total abnormal pulmonary venous drainage, 2 persistent left superior vena cava and 2 abnormal inferior cava venous drainage. The cardiovascular misinterpretations of right atrial isomerism in the atrial-ventricular segment contained 2 secondary atrial septal defect, 1 unroofed coronary sinus and 1 partial atrioventricular septal defect. The cardiovascular misinterpretations of right atrial isomerism in the ventricular-arterial segment involved 3 double-outlet right ventricle, 1 truncus arteriosus and 1 anomalous position of arterial duct. Conclusions The correspondence between ultrasound results and pathological findings about cardiovascular malformations of heterotaxia syndrome is high. The most common cardiovascular misinterpretations of left atrial isomerism involve the ventricular-arterial segment. And the most common cardiovascular misinterpretations of right atrial isomerism involve the venous-atrial segment. Key words: Ultrasonography, prenatal; Heart defects, conginatal; Heterotaxia syndrome

EP10.05: Prenatal diagnosis of common pulmonary vein atresia: evaluation by fetal echocardiography compared with cardiovascular cast model

EP10.05: Prenatal diagnosis of common pulmonary vein atresia: evaluation by fetal echocardiography compared with cardiovascular cast model

One case of atresia of the common pulmonary vein misdiagnosed as total anomalous pulmonary vein drainage by prenatal ultrasound

肺静脉共同腔闭锁是指左、右侧的肺静脉组成共同腔，不与心房、其他心腔或体静脉相连。产前超声诊断肺静脉共同腔闭锁困难，容易漏诊或者被误诊为完全型肺静脉异位引流。本文报告1例孕妇，孕24周产前胎儿超声诊断为右旋心、右侧异构、双上腔静脉、完全型房室间隔缺损、肺动脉闭锁、完全型肺静脉异位引流（心上型）。后经引产尸体解剖证实：右旋心、右侧异构、双上腔静脉并左侧上腔静脉异位引流入左侧形态学右心房、完全型房室间隔缺损、肺动脉闭锁、肺静脉共同腔闭锁、大的体-肺动脉侧支形成。肺静脉共同腔闭锁预后很差，常是致命的，产前诊断具有重要意义。当产前超声检查在胎儿心房后方探及肺静脉共同腔，但不能清晰显示肺静脉共同腔的垂直静脉引流时，应想到肺静脉共同腔闭锁的可能。

Autopsy findings of 19 cases of pulmonary vein abnormalities associated with fetal cardiac anomalies

To improve the diagnostic accuracy of fetal pulmonary venous abnormalities through the analysis of the fetal pulmonary vein anatomy. 234 cases of congenital cardiac abnormalities were detected by echocardiography during pregnancy in An Zhen Hospital, Capital Medical University from May 2010 to August 2015. Autopsy was then performed. The type of fetal pulmonary venous malformation, cardiac abnormalities, systemic venous malformations, and other internal organs deformities were documented. There were ninteen cases of pulmonary venous malformations among the 234 cases of fetal congenital heart disease. These included two cases of congenital pulmonary venous hypoplasia (CPVH) or atresia, four cases of partial anomalous pulmonary venous drainage (PAPVD), seven cases of total anomalous pulmonary venous drainage (TAPVD), five cases of atresia of common pulmonary vein (CPV), one case of congenital pulmonary venous hypoplasia with total anomalous pulmonary venous drainage. There were eleven cases with single ventricle, eight cases with right aortic arch, seven cases with single atrium and six cases with pulmonary valve stenosis. Eleven cases had pulmonary hypoplasia and nine cases had abnormal spleen. There are many variations in pulmonary venous abnormalities associated with severe and complex cardiac abnormalities and internal organs malformation. Care should be exercised during autopsy examination to look for all branches of the pulmonary vein.

Total Anomalous Pulmonary Venous Connection

Background— Late mortality after repair of total anomalous pulmonary venous connection is frequently associated with pulmonary venous obstruction (PVO). We aimed to describe the morphological spectrum of total anomalous pulmonary venous connection and identify risk factors for death and postoperative PVO. Methods and Results— We conducted a retrospective, international, collaborative, population-based study involving all 19 pediatric cardiac centers in the United Kingdom, Ireland, and Sweden. All infants with total anomalous pulmonary venous connection born between 1998 and 2004 were identified. Cases with functionally univentricular circulations or atrial isomerism were excluded. All available data and imaging were reviewed. Of 422 live-born cases, 205 (48.6%) had supracardiac, 110 (26.1%) had infracardiac, 67 (15.9%) had cardiac, and 37 (8.8%) had mixed connections. There were 2 cases (0.5%) of common pulmonary vein atresia. Some patients had extremely hypoplastic veins or, rarely, discrete stenosis of the individual veins. Sixty (14.2%) had associated cardiac anomalies. Sixteen died before intervention. Three-year survival for surgically treated patients was 85.2% (95% confidence interval 81.3% to 88.4%). Risk factors for death in multivariable analysis comprised earlier age at surgery, hypoplastic/stenotic pulmonary veins, associated complex cardiac lesions, postoperative pulmonary hypertension, and postoperative PVO. Sixty (14.8%) of the 406 patients undergoing total anomalous pulmonary venous connection repair had postoperative PVO that required reintervention. Three-year survival after initial surgery for patients with postoperative PVO was 58.7% (95% confidence interval 46.2% to 69.2%). Risk factors for postoperative PVO comprised preoperative hypoplastic/stenotic pulmonary veins and absence of a common confluence. Conclusions— Preoperative clinical and morphological features are important risk factors for postoperative PVO and survival.

A Difficult Emergency Surgical Diagnosis: Atresia of the Common Pulmonary Vein

A newborn female experienced severe respiratory distress immediately after delivery. She presented with intense cyanosis, refractory hypoxemia, and acidosis. The deterioration was rapidly progressive, leading to the child's demise. The autopsy showed common pulmonary vein atresia, the most severe form of pulmonary venous drainage obstruction. Subpleural and interstitial pulmonary lymphagiectasias also were present as well as evidence of pulmonary hypertension. The lung pathology probably resulted from pulmonary venous atresia during prenatal development.

Atresia of the Common Pulmonary Vein-A Rare Congenital Anomaly

Early atresia of the common pulmonary vein (ACPV) leads to total anomalous pulmonary venous drainage, while late atresia or incomplete absorption leads to common pulmonary vein atresia and cor triatriatum sinister (both of which are rare). We report seven cases of atresia of the common pulmonary vein at autopsy. Retrospective case records studied. Tertiary care teaching hospital affiliated to medical college in Mumbai, India. The clinical and autopsy records of neonates and infants diagnosed with ACPV over a period of 11 years were reviewed. The demographic data, clinical features, and results of investigations were correlated with the cardiac findings at necropsy. Seven neonates and infants (five males and two females) had ACPV. Six babies presented at birth and expired within 48 hours. They had a homogeneous group of symptoms of cyanosis since birth with respiratory distress and/or features of congestive cardiac failure. One had perimembranous ventricular septal defect with bicuspid pulmonary valve and atresia of aortic valve. Two had dysmorphic facial features suggestive of Down's syndrome. Isolated ACPV was seen in only two patients. Asplenia syndrome was seen in three patients. Marked dilatation of the pulmonary lymphatics was identified in three patients. Early atresia of the common pulmonary vein, an extremely rare abnormality, manifests in early infancy/neonatal period and needs urgent corrective surgery. It is associated with other congenital heart disorders and extracardiac manifestations as well.

Common Pulmonary Vein Atresia: The Role of Extracorporeal Membrane Oxygenation

Common pulmonary vein atresia is a rare form of cyanotic congenital heart disease in which the pulmonary veins join to form a blind confluence that does not communicate with the heart or the major systemic veins. Twenty-one cases have been reported since the lesion was first described in 1962; only two patients with this lesion have survived. Over a 4-year period, common pulmonary vein atresia was diagnosed in five newborns referred to the San Diego Regional Extracorporeal Membrane Oxygenation Program. All five improved dramatically as a result of venoarterial bypass. Congenital heart disease was diagnosed at autopsy in the initial case and by cardiac ultrasound and/or catheterization in the others. Surgical repair was attempted in three neonates; all three required continued extracorporeal membrane oxygenation support postoperatively because of pulmonary hypertension and severe pulmonary parenchymal disease. One infant died of respiratory insufficiency at 3 months of age. The other two survived and were discharged from the hospital. The diagnostic and therapeutic dilemmas posed by this lesion and the life-saving potential for extracorporeal membrane oxygenation in this rapidly fatal cardiac anomaly are the bases of this report.

A stillborn case of common pulmonary vein atresia with asplenia

A stillborn case of common pulmonary vein atresia with asplenia

A surgically corrected case of common pulmonary vein atresia

A surgically corrected case of common pulmonary vein atresia

Cross sectional echocardiographic diagnosis of total anomalous pulmonary venous connection.

Total anomalous pulmonary venous connection can be diagnosed by cross sectional echocardiography. Information is, however, lacking concerning the diagnostic accuracy of this imaging method and any factors which may influence it. To predict the pulmonary venous connection 463 patients with congenital heart disease who had angiographic confirmation were prospectively examined. Total anomalous pulmonary venous connection was present in 34 (7%) patients and correctly detected in 33 (97% sensitivity). There were two false positive results (99% specificity). All 23 patients with atrial situs solitus with or without associated congenital heart defects were correctly detected. One false negative result occurred in a patient with right atrial isomerism and complex congenital heart disease with decreased pulmonary blood flow. Diagnosis of the type of total anomalous pulmonary venous connection, including the site and other anatomical details, was analysed and was correct in 24 of 34 (71%) patients. Errors included incorrect prediction of the site of total anomalous pulmonary venous connection in five patients with right atrial isomerism, atrioventricular canal defect, and pulmonary atresia, details of confluence interconnection in three of four patients with the mixed type of connection, undiagnosed pulmonary venous obstruction in three of the patients with right atrial isomerism, and failure to predict common pulmonary vein atresia in one patient. Factors which were related to incorrect echocardiographic diagnosis were abnormal atrial situs, mixed total anomalous pulmonary venous connection, and associated congenital cardiac defects, whereas age, weight, sex, clinical condition, and time during the study were not related. It is concluded that cross sectional echocardiography can be used to diagnose accurately total anomalous pulmonary venous connection. This method can be the definitive imaging and diagnostic method in symptomatic infants with total anomalous pulmonary venous connection who have atrial situs solitus, unifocal pulmonary venous connection, and no evidence of other major congenital cardiac defect.

Common pulmonary vein atresia: Importance of immediate recognition and surgical intervention

Common pulmonary vein atresia is a rare congenital anomaly; all four pulmonary veins drain into a common dilated chamber with no direct connections to the heart or systemic venous system. Since its first description in 1962, 16 cases have been reported. Only four patients were surgically managed and none survived. This communication presents the seventeenth reported case of common pulmonary vein atresia and the only patient whose anomaly was suspected early enough to demand immediate surgical management, with gratifying long-term success. The literature on the subject is reviewed and common features of the anomaly are emphasized to facilitate precise diagnosis, so that a futile search for a nonexistent communicating vein is avoided at the time of operation. This approach has led to the first successful surgical management of this otherwise fatal lesion.

Common pulmonary vein atresia

Common pulmonary vein atresia

Atresia of the Common Pulmonary Vein: Report of One Case

Common pulmonary vein atresia is a rare cause of pulmonary venous obstruction which leads to the early development of hypoxemia and acidemia with death in the neonatal period. The characteristic radiographic appearance of the lungs is due to extreme dilatation of the subpleural lymphatic channels. This entity may be differentiated from the other lesions causing pulmonary venous obstruction by selective angiography. Total surgical correction with an anastomosis between the common pulmonary vein and left atrium is feasible but has not been successful thus far.