Total anomalous pulmonary venous connection (<scp>TAPVC</scp>): A familial cluster of 3 siblings

Acevedo, Jennifer; Lee, Simon; Gotteiner, Nina L.; Lay, Amy S.; Patel, Angira

doi:10.1111/echo.13665

Cited by 5 publications

(5 citation statements)

References 10 publications

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“…TOF is the most common form of cyanotic CHD with an incidence of approximately four in 10,000 live births, and the anatomical characteristics include ventricular septal defect (VSD), pulmonary stenosis (PS), right ventricular hypertrophy, and an overriding aorta ( Morgenthau and Frishman, 2018 ). TAPVC is a rare congenital cardiac anomaly characteristic of pulmonary veins directly connecting to the right atrium or systemic venous system ( Acevedo et al, 2017 ).…”

Section: Introductionmentioning

confidence: 99%

The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases

Wang¹,

Ma²,

Zhang³

et al. 2021

Front. Cell Dev. Biol.

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Congenital heart defect (CHD) is a rare and complicated disease with a high mortality rate. Its etiology remains unclear and includes many aspects. DNA methylation has been indicated to be involved in heart development in the early stage of life, and aberrant methylation level was related to CHDs. This study provides the first evidence of the cross talk of SNP variants and DNA methylation in clarifying CHD underlying genomic cause. We gathered whole exome sequencing (WES) data for Group 1 consisting of patients with PA (n = 78), TOF (n = 20), TAPVC (n = 78), and PDA (n = 40), and 100 healthy children as control group. Rare non-synonymous mutations and novel genes were found and highlighted. Meanwhile, we carried out the second analysis of DNA methylation data from patients with PA (n = 3), TAPVC (n = 3), TOF (n = 3), and PDA (n = 2), and five healthy controls using 850 K array in Group 2. DNA methylation was linked to WES data, and we explored an obvious overlap of hyper/hypomethylated genes. Next, we identified some candidate genes by Fisher’s exact test and Burden analysis; then, those methylated genes were figured out by the criteria of the mutation located in the CpG islands of the genome, differential methylation sites (DMS), and DNA methylation quantitative trait loci (meQTLs) in the database, respectively. Also, the interaction of differentially methylated candidate genes with known CHD pathogenetic genes was depicted in a molecular network. Taken together, our findings show that nine novel genes (ANGPTL4, VEGFA, PAX3, MUC4, HLA-DRB1, TJP2, BCR, PKD1, and HK2) in methylation level are critical to CHD and reveal a new insight into the molecular pathogenesis of CHD.

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Section: Introductionmentioning

confidence: 99%

The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases

Wang¹,

Ma²,

Zhang³

et al. 2021

Front. Cell Dev. Biol.

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“…1,2 Patients with scimitar syndrome and multiple congenital anomalies can be challenging to manage due to their multiple organ system pathologies.Although some forms of CHD have been linked to various genetic syndromes, the mechanisms that contribute to scimitar syndrome remains elusive. [3][4][5][6][7][8][9] Studies have demonstrated an association between scimitar syndrome and extracardiac anomalies including congenital diaphragmatic hernia, imperforate anus, and variants of VACTERL association. [10][11][12][13][14] Although pathogenic variants in specific genes can clearly cause CHDs, the genetic factors contributing to most cases of scimitar syndrome remain unidentified.…”

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confidence: 99%

“…[10][11][12][13][14] Although pathogenic variants in specific genes can clearly cause CHDs, the genetic factors contributing to most cases of scimitar syndrome remain unidentified. [3][4][5][6][7][8][9] In this study, we sought to determine the frequency and efficacy of genetic testing in patients with scimitar syndrome from a single institution. We also use the results of clinically based genetic testing to identify genes and pathways whose alteration may lead to scimitar syndrome development.…”

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confidence: 99%

The frequency and efficacy of genetic testing in individuals with scimitar syndrome

et al. 2021

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Background: Scimitar syndrome is a rare CHD composed of partial anomalous pulmonary venous connection from the right lung, via a scimitar vein, to the inferior vena cava rather than the left atrium. Genetic conditions associated with scimitar syndrome have not been well investigated at present. Methods: Our study included patients with scimitar syndrome diagnosed at Texas Children’s Hospital from January 1987 to July 2020. Medical records were evaluated to determine if genetic testing was performed, including chromosomal microarray analysis or whole-exome sequencing. Copy number variants identified as pathogenic/likely pathogenic and variants of unknown significance were collected. Analyses of cardiac and extracardiac findings were performed via chart review. Results: Ninety-eight patients were identified with scimitar syndrome, 89 of which met inclusion criteria. A chromosome analysis or chromosomal microarray analysis was performed in 18 patients (20%). Whole-exome sequencing was performed in six patients following negative chromosomal microarray analysis testing. A molecular genetic diagnosis was made in 7 of 18 cases (39% of those tested). Ninety-six per cent of the cohort had some type of extracardiac finding, with 43% having asthma and 20% having a gastrointestinal pathology. Of the seven patients with positive genetic testing, all had extracardiac anomalies with all but one having gastrointestinal findings and 30% having congenital diaphragmatic hernia. Conclusions: Genetic testing revealed an underlying diagnosis in roughly 40% of those tested. Given the relatively high prevalence of pathogenic variants, we recommend chromosomal microarray analysis and whole-exome sequencing for patients with scimitar syndrome and extracardiac defects.

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“…However, it may be a single gene inheritance according to the existent literature ( 25 ). In the affected families, the abnormal pulmonary venous connection is a common characteristic, but the location of the abnormal connection is inconsistent ( 31 ). TAPVC is associated with several syndromes, such as asplenia, polysplenia, and Cat's eye syndrome ( 25 ).…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and postnatal verification in fetuses with total anomalous pulmonary venous connection

Xue

Xiong

et al. 2023

Front. Pediatr.

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ObjectiveTo systematically verify the accuracy of a four-step prenatal ultrasonography in diagnosing fetal total anomalous pulmonary venous connection (TAPVC).MethodsA total of 62 TAPVC fetuses received prenatal ultrasonography and were confirmed by postnatal echocardiography, surgery, or postabortion autopsy. The suspected TAPVC fetuses were further screened by a four-step prenatal ultrasonography for TAPVC classification, pulmonary venous obstruction, and the associated malformations, and followed postpartum. The sonographic features, clinical data, and prognosis of the TAPVC fetuses were retrospectively analyzed.ResultsOf the 62 TAPVC fetuses, supracardiac TAPVC was found in 20 cases, intracardiac TAPVC in 12, infracardiac TAPVC in 21, and mixed TAPVC in 9. A total of 30 cases with right atrium isomerism were correctly diagnosed. Of the 11 cases with other intracardiac and extracardiac malformations, 1 case was missed to be diagnosed. Of the 21 isolated TAPVC cases, 6 were missed prenatally and 1 case was prenatally diagnosed as intracardiac and postnatally proved to be mixed (intracardiac type + supracardiac type) by echocardiography. Of the 13 TAPVC live births, 4 infants died in the neonatal period without operation. Of the nine infants undergoing the operation, five recuperated and survived; one survived but had complications with superior vena cava obstruction and collateral circulation formation, and three died postoperatively.ConclusionThe four-step prenatal ultrasound procedure can comprehensively and systematically evaluate fetal TAPVC, detailing the classification, potential obstruction, and associated malformations. It provides substantial support for subsequent prenatal counseling and neonatal assessment. The retrospective analysis also reveals that isolated TAPVC is more prone to be missed in diagnosis.

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Total anomalous pulmonary venous connection (TAPVC): A familial cluster of 3 siblings

Cited by 5 publications

References 10 publications

The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases

The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases

The frequency and efficacy of genetic testing in individuals with scimitar syndrome

Prenatal diagnosis and postnatal verification in fetuses with total anomalous pulmonary venous connection

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