Transposition of great arteries with total anomalous pulmonary venous connection: A modified Senning procedure for late presentation.
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ABSTRACT:
SUBMITTER: Mishra A
PROVIDER: S-EPMC8303077 | biostudies-literature |
REPOSITORIES: biostudies-literature
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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:The 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. Clinical 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. Fifty-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. Adult 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.
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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.
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Project description:We present a diagnosis of isolated anatomically corrected malposed great arteries on fetal echocardiography at 31 weeks of gestation period. The patient was referred to our institute with a diagnosis of suspected transposition of great arteries.
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Project description:OBJECTIVES: Total anomalous pulmonary venous connection (TAPVC) is a rare congenital heart disease. This study aimed to evaluate the outcomes of TAPVC repair in neonates, controlling for anatomic subtypes and surgical techniques. METHODS: Between 1997 and 2013, 88 patients (median age: 16 days) underwent repair for supracardiac (31), cardiac (18), infracardiac (36), or mixed (3) TAPVC. All the patients underwent emergency operation due to obstructed drainage. Supracardiac and infracardiac TAPVC repair included a side-to-side anastomosis between the pulmonary venous confluence and left atrium. Coronary sinus unroofing was preferred for cardiac TAPVC repair. RESULTS: The early mortality rate was 2.3% (2/88 patients). The echocardiogram showed no obstruction in the pulmonary vein anastomosis, and flow rate was 1.1-1.42 m/s in the 3-year follow-up period. CONCLUSIONS: The accurate preoperative diagnosis, improved protection of heart function, use of pulmonary vein tissue to anastomose and avoid damage of the pulmonary vein, and delayed sternum closure can reduce the risk of mortality. The preoperative severity of pulmonary vein obstruction, the timing of the emergency operation, and infracardiac or mixed-type TAPVC can affect prognosis. Using our surgical technique, the TAPVC mortality among our patients was gradually reduced with remarkable results. However, careful monitoring of the patient with pulmonary vein restenosis and the timing and method of reoperation should also be given importance.
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Project description:BackgroundTotal anomalous pulmonary venous connection (TAPVC) is recognized as a rare congenital heart defect (CHD). With a high mortality rate of approximately 80%, the survival rate and outcomes of TAPVC patients are not satisfactory. However, the genetic aetiology and mechanism of TAPVC remain elusive. This study aimed to investigate the underlying genomic risks of TAPVC through next-generation sequencing (NGS).MethodsRare variants were identified through whole exome sequencing (WES) of 78 sporadic TAPVC cases and 100 healthy controls using Fisher's exact test and gene-based burden test. We then detected candidate gene expression patterns in cells, pulmonary vein tissues, and embryos. Finally, we validated these genes using target sequencing (TS) in another 100 TAPVC cases.FindingsWe identified 42 rare variants of 7 genes (CLTCL1, CST3, GXYLT1, HMGA2, SNAI1, VAV2, ZDHHC8) in TAPVC cases compared with controls. These genes were highly expressed in human umbilical vein endothelial cells (HUVECs), mouse pulmonary veins and human embryonic hearts. mRNA levels of these genes in human pulmonary vein samples were significantly different between cases and controls. Through network analysis and expression patterns in zebrafish embryos, we revealed that SNAI1, HMGA2 and VAV2 are the most important genes for TAPVC.InterpretationOur study identifies novel candidate genes potentially related to TAPVC and elucidates the possible molecular pathogenesis of this rare congenital birth defect. Furthermore, SNAI1, HMGA2 and VAV2 are novel TAPVC candidate genes that have not been reported previously in either humans or animals. FUND: National Natural Science Foundation of China.
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Project description:BackgroundAlagille syndrome (ALGS) is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene. It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems, such as the cardiovascular, skeletal, and urinary systems.Case summaryWe report a rare case of ALGS. A 1-month-old male infant presented with sustained jaundice and had a rare congenital heart disease: Total anomalous pulmonary venous connection (TAPVC). Sustained jaundice, particularly with cardiac murmur, caught our attention. Laboratory tests revealed elevated levels of alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transpeptidase, total bilirubin, and total bile acids, indicating serious intrahepatic cholestasis. Imaging confirmed the presence of butterfly vertebra at the seventh thoracic vertebra. This suggested ALGS, which was confirmed by genetic testing with a c.3197dupC mutation in the JAG1 gene. Ursodiol was administered immediately after confirmation of the diagnosis, and cardiac surgery was performed when the patient was 1.5 month old. He recovered well after treatment and was discharged at the age of 3 mo. At the age of two years, the patient returned to our clinic because multiple cutaneous nodules with xanthomas appeared, and their size and number increased over time.ConclusionWe report a unique case of ALGS associated with TAPVC and severe xanthomas. This study has enriched the clinical manifestations of ALGS and emphasized the association between JAG1 gene and TAPVC.
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