Genetic Factors Influencing the Onset, Severity or Outcome of Disease

A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes

Flaminia Pugnaloni, Ludovica Martini, Domenico Umberto De Rose, Francesca Landolfo, Paola Giliberti, Rosario Ruta, Antonio Novelli, Novella Rapini, Fabrizio Barbetti, Alessandra Toscano, Andrea Conforti, Pietro Bagolan, Irma Capolupo, Andrea Dotta “Bambino Gesù” Children’s Hospital Istituto di Ricovero e Cura a Carattere Scientifico. University of Rome “Tor Vergata”. Italy Hormone Research in PaediatricsHorm Res Paediatr 2025; […]

A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes Read More »

Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation

Delphine Yung, Kaitlyn Freeman, Ghayda Mirzaa University of Washington School of Medicine and Seattle Children’s Research Institute. Brotman Baty Institute for Precision Medicine.United States ChildrenChildren 2022; 9: DOI: 10.3390/children9050671 AbstractPulmonary vein stenosis is a rare and frequently lethal childhood disease. There are few known genetic associations, and the pathophysiology is not well known. Current treatments include

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Pericardial effusion and pulmonary vein stenosis in severe bronchopulmonary dysplasia

Emma E. Williams, Mahesh Nanjundappa, Kunal Babla, James Wong, Theodore Dassios, Anne Greenough King’s College London and King’s College Hospital NHS Foundation Trust. Evelina Children’s Hospital and Guy’s and St Thomas’ NHS Foundation Trust.United Kingdom Archives of Disease in Children Fetal and Neonatal EditionArch Dis Child Fetal Neonatal Ed 2022; 107: DOI: 10.1136/archdischild-2021-321830 AbstractAbstract Not Available

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Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis

Guruprasad Mahadevaiah, Manoj Gupta, Ravi Ashwath Rainbow Babies and Children’s Hospital.United States Texas Heart Institute JournalTex Heart Inst J 2015; 42: 458-461DOI: 10.14503/THIJ-14-4256 AbstractThe prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations,

Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis Read More »

Ebstein anomaly and Trisomy 21: A rare association

Stephanie L Siehr, Rajesh Punn, James R Priest, Alexander Lowenthal Stanford University and Lucile Packard Children’s Hospital.United States Annals of Pediatric CardiologyAnn Pediatr Cardiol 2014; 7: 67-69DOI: 10.4103/0974-2069.126569 AbstractThis is a case report of a patient with Trisomy 21 with Ebstein anomaly, a ventricular septal defect, and acquired pulmonary vein stenosis; a rare combination, diagnosed during

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Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation

Jaya K. George-Abraham, Sarah L. Zimmerman, Robert B. Hinton, Bradley S. Marino, David P. Witte, Robert J. Hopkin Cincinnati Children’s Hospital Medical Center.United States American Journal of Medical Genetics Part AAm J Med Genet A 2012; 158A: 1971-1976DOI: 10.1002/ajmg.a.35428 AbstractWe report on a male neonate with prenatally diagnosed mosaicism for a supernumerary marker chromosome and multiple

Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation Read More »

Interorgan Communication-Pulmonary Vein Stenosis in Children-A Review of Epidemiology, Pathophysiology, and Current Management Principles

Usha S. Krishnan, Mary P. Mullen Vagelos College of Physicians and Surgeons of Columbia University Irving Medical Center and Morgan Stanley Children’s Hospital of New York Presbyterian. Boston Children’s Hospital and Harvard Medical School.United States Comprehensive Physiology Interorgan Communication in Health and DiseaseCompre Physiol 2025;DOI: 10.1002/cph4.70085 AbstractUnderstanding communication between various organ systems is vital to understanding

Interorgan Communication-Pulmonary Vein Stenosis in Children-A Review of Epidemiology, Pathophysiology, and Current Management Principles Read More »

First locus for primary pulmonary vein stenosis maps to chromosome 2q

Ingrid van de Laar, Marja Wessels, Ingrid Frohn-Mulder, Michiel Dalinghaus, Bianca de Graaf, Marianne van Tienhoven, Paul van der Moer, Margreet Husen-Ebbinge, Maarten Lequin, Dennis Dooijes, Ronald de Krijger, Ben A. Oostra, Aida M. Bertoli-Avella Erasmus Medical Center. Medical Center Rijnmond-Zuid.Netherlands European Heart JournalEur Heart J 2009; 30: 2485–2492DOI: 10.1093/eurheartj/ehp271 AbstractAims: Primary pulmonary vein stenosis (PVS) is

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Preoperative pulmonary venous obstruction affects long-term outcome for survivors of total anomalous pulmonary venous connection repair

Paul M. Kirshbom, Richard J. Myung, J. William Gaynor, Richard F. Ittenbach, Stephen M. Paridon, William M. DeCampli, Tom R. Karl, Thomas L. Spray Children’s Hospital of Philadelphia.United States Annals of Thoracic SurgeryAnn thorac Surg 2002; 74: 1616-1620DOI: 10.1016/s0003-4975(02)03935-8 AbstractBackground: Early outcomes after repair of total anomalous pulmonary venous connection continue to improve; however, little information is

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Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome

Aaron R. Prosnitz, Jane Leopold, Mira Irons, Kathy Jenkins, Amy E. Roberts Boston Children’s Hospital. Brigham and Women’s Hospital. American Board of Medical Specialties.United States Congenital Heart DiseaseCongenit Heart Dis 2017; 12: 475-483DOI: 10.1111/chd.12471 AbstractObjective: To describe a group of children with co-incident pulmonary vein stenosis and Smith-Lemli-Opitz syndrome and to generate hypotheses as to the shared

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