Anomalous systemic and pulmonary venous connections: neonatal hybrid management of a unique, unreported association.
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ABSTRACT:
SUBMITTER: Bichali S
PROVIDER: S-EPMC8435547 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Total anomalous pulmonary venous connection (TAPVC) is a potentially lethal congenital disorder that occurs when the pulmonary veins do not connect normally to the left atrium, allowing mixing of pulmonary and systemic blood. In contrast to the extensive knowledge of arterial vascular patterning, little is known about the patterning of veins. Here we show that the secreted guidance molecule semaphorin 3d (Sema3d) is crucial for the normal patterning of pulmonary veins. Prevailing models suggest that TAPVC occurs when the midpharyngeal endothelial strand (MES), the precursor of the common pulmonary vein, does not form at the proper location on the dorsal surface of the embryonic common atrium. However, we found that TAPVC occurs in Sema3d mutant mice despite normal formation of the MES. In these embryos, the maturing pulmonary venous plexus does not anastomose uniquely with the properly formed MES. In the absence of Sema3d, endothelial tubes form in a region that is normally avascular, resulting in aberrant connections. Normally, Sema3d provides a repulsive cue to endothelial cells in this area, establishing a boundary. Sequencing of SEMA3D in individuals with anomalous pulmonary veins identified a phenylalanine-to-leucine substitution that adversely affects SEMA3D function. These results identify Sema3d as a crucial pulmonary venous patterning cue and provide experimental evidence for an alternate developmental model to explain abnormal pulmonary venous connections.
| S-EPMC3746328 | biostudies-literature
Project description:We sought to evaluate the value of echocardiography in the diagnosis of different types of anomalous pulmonary venous connections (APVCs) and summarize the diagnostic experience. A total of 84 patients with APVC were confirmed by surgery (n = 82) or computerized tomography angiography (CTA) (n = 2) in the last 6 years (2008-2014) at the Wuhan Union Hospital. The total anomalous pulmonary venous connection (TAPVC) cases account for 60.7%, and partial anomalous pulmonary venous connection (PAPVC) cases account for 39.3% among the 84 cases that were identified. The 51 TAPVCs were classified by the Darling method-type I (41.1%), type II (52.9%), type III (1.9%), and type IV (3.9%). The most common drainage path of type I was common pulmonary drainage to the left innominate vein via vertical vein, and the coronary sinus drainage was the most common path in type II. Compared with surgical or CTA results, the sensitivity and specificity of echocardiography in the diagnosis of APVCs were 97.6% and 99.9%, respectively. The echocardiography misdiagnoses were mainly seen in PAPVCs. Of the TAPVCs and PAPVCs correctly diagnosed by echocardiography, the diagnostic accuracy of classification were 94% and 100%, respectively. Echocardiography has specific value in diagnosing and classification of APVC, especially the supracardiac and cardiac TAPVCs. Multiplane scan views and color Doppler improve the display of drainage pathway.
| S-EPMC5591171 | biostudies-literature
Project description:Partial anomalous pulmonary venous return (PAPVR) is a rare congenital anomaly that results in a left-to-right shunt. Based on the shunt fraction, PAPVR has a wide spectrum of presentations. If a significant left-to-right shunt is left unrepaired, pulmonary vascular remodeling can occur resulting in the development of pulmonary arterial hypertension (PAH). Furthermore, if the condition is associated with an atrial septal defect (ASD), the patient can develop shunt reversal and Eisenmenger's syndrome in setting of severe PAH. Management plans include close observation, surgical repair, and treatment with pulmonary artery vasodilator therapies. Here, we present multiple cases of PAPVR to highlight the wide spectrum of presentations and the individualized treatment for each case.
| S-EPMC6456451 | biostudies-literature
Project description:ObjectivesA meta-analysis was performed to investigate the risk factors for postoperative pulmonary venous obstruction (PVO) after surgical repair of total anomalous pulmonary venous connection (TAPVC).MethodsData bases including PubMed, Embase, Web of Science and Cochrane Library were searched systematically. The goal was to discuss the risk factors for postoperative PVO after TAPVC. Publications were screened by 2 authors independently for criteria inclusion, methodological quality assessment and data extraction. The Newcastle-Ottawa Scale and the Agency for Healthcare Research and Quality checklist were obtained to assess the quality of the studies. Data were pooled by the random effect model or the fixed effect model according to the heterogeneity test.ResultsA total of 16 studies (2,385 participants) were included in the meta-analysis. All included studies were retrospective studies. Six potential risk factors were pooled, 5 of which were significantly associated with postoperative PVO. Patients with preoperative PVO were more likely to suffer from postoperative PVO [odds ratio (OR)=5.27, 95% confidence interval (CI) = (2.75, 10.11), P < 0.01]. Compared with a sutureless procedure, the conventional operative procedure was associated with postoperative PVO [OR = 1.80, 95% CI=(1.20, 2.71), P < 0.01]. A mixed type TAPVC plays a critical role in postoperative PVO [OR = 3.78, 95% CI=(1.08, 13.18), P = 0.04]. Inverse variance analysis showed that longer cardiopulmonary bypass time [hazard ratio (HR)=1.01, 95% CI=(1.01, 1.02), P < 0.00001] and aortic cross-clamp time [HR = 1.01, 95% CI=(1.01, 1.02), P < 0.01] were significantly associated with postoperative PVO. Heterotaxy [OR = 1.18, 95% CI = 0.13, 10.45, P = 0.88] was not statistically significant as a risk factor for postoperative PVO.ConclusionsThis meta-analysis may provide a perspective on the risk factors for postoperative PVO after TAPVC, thus leading to more studies predicting postoperative PVO after TAPVC with our findings.
| S-EPMC9270848 | biostudies-literature
Project description:Anomalies of systemic venous connections are extremely rare. We describe the case of an asymptomatic 29-year-old woman who was found to have systemic desaturation in the peripartum period and referred to us for suspected cyanotic heart disease. She was diagnosed to have hemianomalous systemic venous connection of the inferior vena cava (IVC) into the left atrium (LA). Transesophageal echocardiogram with contrast diagnosed anomalous connection of the IVC to the LA, further confirmed by computed tomography and conventional angiography. The patient underwent successful surgical correction with an uneventful postoperative course.
| S-EPMC9075571 | biostudies-literature
Project description: Not available
| S-EPMC6058939 | biostudies-literature
Project description:Total anomalous systemic venous return is a very rare anomaly, where vena cava inferior, vena cava superior, and coronary sinus drain into left atrium. Two-day-old male baby was admitted with cyanosis and tachypnea after the birth. Left atrial isomerism with anomalous systemic venous drainage was found on echocardiographic examination. We present an unusual case of total anomalous systemic venous drainage in to the left atrium.
| S-EPMC4145383 | biostudies-literature
Project description:The description of totally anomalous systemic venous connection is limited to case reports. In this review, we seek to clarify anatomic, physiologic, and hemodynamic aspects of this extremely rare anomaly. We also present findings of two patients in whom connection of all the systemic veins was anomalous. In the first patient, with usual atrial arrangement, all systemic veins, including the coronary sinus, were connected anomalously to the morphologically left atrium. Limited left-to-right shunt across an atrial septal defect provided the only source of blood flow to the lungs. The diagnosis was established by saline contrast echocardiography and cardiac catheterization. Extreme hypoplasia of the right ventricle precluded corrective surgery, so we performed a bidirectional Glenn operation, along with atrial septectomy. The second patient had isomerism of the left atrial appendages, which creates problems in the definition in anatomic terms since the connection of the systemic veins can never be normal anatomically when both atriums possess a morphologically left appendage. Our patient, nonetheless, had all the systemic and pulmonary veins, connected to the left-sided atrial chamber which then connected to the left ventricle, thus producing hemodynamics of totally anomalous systemic venous connection. We propose an algorithm for evaluation of this hemodynamic combination and discuss management options. We also intend to clarify the potential differences between connection and drainage, with particular attention to the arrangement of atrial appendages. Even though the hemodynamics may be comparable, in anatomic terms, both systemic and pulmonary venoatrial connection will always be anomalous with isomeric atrial appendages.
| S-EPMC5594938 | biostudies-literature
Project description: Not available
| S-EPMC4368941 | biostudies-literature
Project description:The lack of accessible noninvasive tools to examine the molecular alterations limits our understanding of the causes of total anomalous pulmonary venous connection (TAPVC), as well as the identification of effective operational strategies. Here, we consecutively enrolled peripheral leukocyte transcripts of 26 preoperative obstructive and 22 non-obstructive patients with TAPVC. Two-hundred and fifty six differentially expressed mRNA and 27 differentially expressed long noncoding RNA transcripts were dysregulated. The up-regulated mRNA was enriched in the hydrogen peroxide catabolic process, response to mechanical stimulus, neutrophil degranulation, hemostasis, response to bacterium, and the NABA CORE MATRISOME pathway, all of which are associated with the development of fibrosis. Furthermore, we constructed predictive models using multiple machine-learning algorithms and tested the performance in the validation set. The mRNA NR3C2 and lncRNA MEG3 were screened based on multiple iterations. The random forest prediction model can predict preoperative obstruction patients in the validation set with high accuracy (area under curve = 1; sensitivity = 1). These data highlight the potential of peripheral leukocyte transcripts to evaluate obstructive-related pathophysiological alterations, leading to precision healthcare solutions that could improve patient survival after surgery. It also provides a novel direction for the study of preoperative obstructive TAPVC.
| S-EPMC9194086 | biostudies-literature