Total Anomalous Pulmonary Venous Return with No Connection.
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ABSTRACT:
SUBMITTER: DeMatteo V
PROVIDER: S-EPMC6058939 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
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Total Anomalous Pulmonary Venous Return with No Connection.
DeMatteo Valerie V Quartermain Michael D MD DiLorenzo Michael M Liu Michael M Tinker Craig C Cohen Meryl S MS
CASE (Philadelphia, Pa.) 20180301 3
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Project description:Abstract Background Total anomalous pulmonary venous return is a rare cyanotic congenital heart disease in which pulmonary veins connect to the systemic veins, right atrium, or coronary sinus. Given its variability, it is essential to define the pathway and drainage site. Case summary We describe a 3-day-old patient with total anomalous pulmonary venous return, in which the four pulmonary veins drained into a common vertical vein that had a double connection at the cardiac (coronary sinus) and infracardiac (portal vein) levels. The echocardiographic diagnosis was confirmed by computed tomography scan. At 1.5 months, she underwent surgery by anastomosis of the venous collector with the left atrium, unroof of the coronary sinus, and clousure of its communication with right atrium. The vertical vein was ligated. There were no complications after 1 year of follow-up. Discussion This is an unusual anatomy that has not been described in the literature. In this article, we discuss the embryological origin. Furthermore, we highlight the importance of an accurate diagnosis of the venous pathway and its impact on surgical planning and patient prognosis.
| S-EPMC9631977 | 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
Project description:BackgroundThe long-term outcome of adults with repaired total anomalous pulmonary venous connection (TAPVC) is poorly documented. Therefore, the present study aims to provide current clinical data on adult survivors with repaired TAPVC focusing on arrhythmia.MethodsClinical and imaging data (prevalence and type of arrhythmias, symptoms, surgical and medical treatment, echocardiographic and cardiac magnetic resonance haemodynamic parameters) were retrospectively collected from 8 European centres and compared between patients with and without arrhythmias.ResultsFifty-seven patients were included (age 20 [16-67] years [female 28, 49%]). At the last follow-up, that is, 21 (8-51) years after surgery, 79% and 93% of patients were free of symptoms and cardiac medication, respectively. The prevalence of late arrhythmias was 21%; 9 (16%) patients showed intra-atrial re-entrant tachycardia (IART) and 2 (4%) ventricular arrhythmias. Patients with IART were older (P = 0.018) and 4 (7%) required antiarrhythmic medication. Three patients (5%) underwent an electrophysiological study, and another 3 (5%) underwent pacemaker implantation within 36 months after surgical correction, which were removed in 2 patients after 7 years. Early postoperative arrhythmias (P = 0.005), right ventricular dilatation (P = 0.003), and valvulopathy (P = 0.009) were more often present in patients with late IART.ConclusionsAdult survivors after isolated-TAPVC repair presented a high prevalence of arrhythmias. Age, right ventricular dilatation, early arrhythmias, and valvular lesions are risk factors for IART. Long-term follow-up is important as some of these currently asymptomatic patients will probably develop arrhythmias in the future.
| S-EPMC10642084 | biostudies-literature
Project description:BackgroundPatients with total anomalous pulmonary venous connection (TAPVC) generally have symptoms during the neonatal period and infancy, and the fatality rate is extremely high. Most patients do not survive to adulthood. This study analyzed the clinical and transthoracic echocardiographic (TTE) manifestations of adult patients with TAPVC, summarized the echocardiographic characteristics of TAPVC, and identified the factors influencing pulmonary hypertension.MethodsData from adult patients with TAPVC from Beijing Anzhen Hospital, China, were retrospectively collected for analyses, including sex, age, history of gestation, clinical manifestations, echocardiographic parameters, and blood oxygen levels. Patients were grouped for comparative analyses based on their pulmonary artery systolic pressure (PASP) (≥60 vs. <60 mmHg); 32 atrial septal defect (ASD) patients were included as a control group.Results(I) Sixteen patients were identified with TAPVC (11 women and 5 men; mean age: 32.2±9.5 years), including 8, 4, and 4 patients with supra-cardiac, mixed, and intracardiac type TAPVC, respectively. Furthermore, 10 patients had moderate or severe tricuspid regurgitation, and 6 had a PASP of ≥60 mmHg. Echocardiography misdiagnosed 2 patients with an ASD. (II) The TAPVC group patients had a smaller left atrium (LA) and a lower aorta/pulmonary artery ratio than ASD-only group patients. However, the right ventricular diameter (RVd) and right atrium were larger in patients with TAPVC than in those with only ASD. (III) The RVd was larger and the LA was smaller in patients with a PASP of ≥60 mmHg than in those with a PASP of <60 mmHg. (IV) Of those with a PASP of ≥60 mmHg, TAPVC patients had a smaller LA and a larger RVd than those with only ASD. (V) Pregnancy affected the PASP (adjusted odds ratio: 15.000, 95% confidence interval: 1.031-218.300, P=0.047). (VI) Echocardiography indicated that TAPVC patients with ASD had a right to left shunt at the atrial level and the pulmonary vein (PV) was not connected to the LA.ConclusionsSearching for the PV by TTE is necessary for patients with ASDs, which may help avoid misdiagnosis. Moreover, pregnancy affects the PASP. Patients with TAPVC may present with a larger right heart, smaller LA, and lower aorta/pulmonary artery ration than those with only ASD.
| S-EPMC10407536 | biostudies-literature
Project description:BackgroundThe number of citations a paper receives reflects its impact on the scientific community. We aimed to identify and explore the characteristics of the most cited papers on total anomalous pulmonary venous connection (TAPVC).MethodsWeb of Science Core Collection Expanded Science Citation Index (1900 to present) was searched and papers on TAPVC were reviewed. Articles were ranked by the number of citations and the 100 most cited papers were analyzed.ResultsThe 100 most cited papers were published between 1952 and 2018 with a mean number of citations of 52 (range 26 to 148). The 1990s was the most productive decade. All articles except one were written in English. The 100 most cited articles were published in 24 journals, led by Journal of Thoracic and Cardiovascular Surgery (21 articles), followed by Annals of Thoracic Surgery (20 articles), and Circulation (16 articles). The United States of America contributed most of the 100 most cited papers (60 articles). Hospital for Sick Children, Toronto led the list of citation classics with six papers. Christopher A. Caldarone, John W. Kirklin, and P. E. F. Daubeney were the most productive authors with 3 articles each. More than half of the papers were cohort studies (51 articles). Surgery, radiology and etiology were the main topics. Thirty-one articles were funded by public foundations, and none received support from commercial companies.ConclusionsThe bibliometric analysis gives a historical perspective on scientific progress in the field of TAPVC and lays the foundation for future research.
| S-EPMC10214610 | biostudies-literature
Project description:BackgroundAn updated meta-analysis was performed to explore the clinical outcomes following the sutureless repair in patients with total anomalous pulmonary venous connection (TAPVC) and compare outcomes between the sutureless technique and conventional surgery.MethodsA systematic search of PubMed, Ovid-Embase, and Cochrane Library (CENTRAL) for relevant published studies that reported the clinical outcomes of the sutureless technique in children with TAPVC was performed in February 2022. The publication language was restricted to English.ResultsEleven studies were included involving 771 patients in total. Following the sutureless technique, the incidences of postoperative pulmonary venous obstruction (PVO) and reoperations due to PVO were 3.3% [95% confidence interval (CI), 1.3-5.3%] and 1.8% (95% CI, 0.3-3.3%), respectively. The early and late mortality rates were 3.2% (95% CI, 1.0-5.3%) and 2.5% (95% CI, 0.7-4.3%), respectively. Compared with conventional surgery, the sutureless technique significantly reduced the incidences of postoperative PVO [odds ratio (OR), 0.16; 95% CI, 0.08-0.33; P < 0.00001], reoperations due to PVO (OR, 0.25; 95% CI, 0.10-0.63; P = 0.003), and early mortality (OR, 0.40; 95% CI, 0.21-0.79; P = 0.008). However, no significant difference was found between conventional surgery and the sutureless technique concerning late mortality (OR, 0.63; 95% CI, 0.13-3.00; P = 0.58).ConclusionThe sutureless technique is superior to conventional surgery for the primary repair of TAPVC concerning postoperative PVO, reoperations due to PVO, and early mortality. However, the level of evidence is of low quality. Prospective cohort studies or randomized control trials (RCTs) should be performed to evaluate the effectiveness of sutureless techniques for primary TAPVC repair.
| S-EPMC9095923 | biostudies-literature
Project description:BackgroundPulmonary vein stenosis (PVS) continues to be a major complication after surgical repair of total anomalous pulmonary venous connection (TAPVC). Recent studies suggest that the morphology of pulmonary venous confluence and the left atrium (LA) is associated with PVS. However, there are limited data on the prognostic value of integrating quantitative confluence-atrial morphology into risk stratification.ObjectivesThis study sought to evaluate the prognostic impact of novel imaging metrics derived from 3-dimensional (3D) computed tomography angiography (CTA) modeling on postsurgical PVS (PPVS) in the supracardiac TAPVC (sTAPVC) setting.MethodsPatients undergoing sTAPVC repair in 2017 to 2022 from 3 centers were retrospectively reviewed. Study investigators developed 3D CTA modeled geometric features to quantify confluence-atrial morphology that were analyzed with regard to PPVS.ResultsOf the 162 patients (median age 61 days; 55% having preoperative pulmonary venous obstruction [prePVO]) included, 47 (29%) with PPVS at a median of 1.5 months ([quartile 1-quartile 3: 1.5-3.0 months]). In the univariable analysis, the indexed total volume of the LA and confluence (iTVLC) and the ratio of the corresponding confluence length to the mean distance between the LA and confluence (CCL/mDBLC ratio) were significantly associated with PPVS. In a multivariable model adjusting for prePVO and age, the iTVLC and CCL/mDBLC ratio independently predicted PPVS (HR: 1.15; 95% CI: 1.06-1.25; and HR: 1.20; 95% CI: 1.08-1.35, respectively, all P < 0.01). Specifically, an iTVLC ≥20 cm3/m2 and a CCL/mDBLC ratio ≥7.7 were significantly associated with a reduced risk of PPVS.ConclusionsQuantification of 3D confluence-atrial morphology appears to offer a deeper and better metric to predict PPVS in patients with sTAPVC.
| S-EPMC11328765 | biostudies-literature
Project description:ObjectiveTo develop a model using patient-specific computational fluid dynamics (CFD) to predict the required anastomotic size for total anomalous pulmonary venous connection (TAPVC) surgery and to forecast surgical outcomes.MethodsBased on clinical data from patients, a CFD model was used to simulate the anastomosis between pulmonary venous confluence and the left atrium. Blood flow velocity, wall shear stress, power loss, and pressure were calculated using numerical algorithms within the model. Various sizes of anastomosis were applied during the simulation. The energy dissipation at the anastomosis was computed from the results and compared with real-world data.ResultsAs the simulated anastomotic size increased, blood flow velocity, pulmonary venous pressure, and energy loss decreased. However, when the anastomotic size exceeded 18 mm, the efficiency of energy conversion no longer improved. The realistic and simulated velocities matched well for anastomosis sizes ranging from 15 to 20 mm.ConclusionThe model can assist surgeons in preoperative planning for determining the anastomotic size in TAPVC surgical treatment.
| S-EPMC11474909 | biostudies-literature
Project description:BackgroundOpitz GBBB syndrome (GBBB) is an X-linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of GBBB in a consanguineous family in which two males siblings were concordant for a total anomalous connection of pulmonary veins and minor facial dysmorphias.MethodsTargeted exome sequencing analysis of a 380-gene panel associated with cardiovascular disease was performed on the propositus. Interpretative analysis of the exome results was conducted, and 3D models of the protein changes were generated.ResultsWe identified a NM_000381.4:c.608G>A;p.(Arg203Gln) change in MID1, affecting the conformation of the B-box 2 domain of the protein, with a zinc finger structure and associated protein interactions. This clinical phenotype is consistent with GBBB; however, the type of congenital heart disease observed in this case has not been previously reported.ConclusionA new likely pathogenic variant on MID1 c.608G>A was found to be associated with Opitz GBBB syndrome.
| S-EPMC10496055 | biostudies-literature