Genetic Factors Influencing the Onset, Severity or Outcome of Disease

Pulmonary vein stenosis with Down syndrome: a rare and frequently fatal cause of pulmonary hypertension in infants and children

Srinath Gowda, Deepti Bhat, Zhuang Feng, Chung-Ho Chang, Robert D. Ross The Children’s Hospital of Michigan and Detroit Medical Center.United States Congenital Heart DiseaseCongenit Heart Dis 2014; 9: E90-E97DOI: 10.1111/chd.12088 AbstractDown syndrome (DS) patients are prone to pulmonary hypertension (PHTN) due to various cardiopulmonary causes. However, the association of DS with pulmonary vein stenosis (PVS) is […]

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A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis

Young Bae Sohn, Su Jin Kim, Sung Won Park, Hyung-Doo Park, Chang-Seok Ki, Chi Hwa Kim, Seung Won Huh, Sunghee Yeau, Kyung-Hoon Paik, Dong-Kyu Jin Samsung Medical Center.Republic of Korea American Journal of Medical GeneticsAm J Med Genet 2010; 152A: 3129-3132DOI: 10.1002/ajmg.a.33589 AbstractMucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency

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Outcomes and Risk Factors of Interventions for Pediatric Post-operative Pulmonary Vein Stenosis

Kristin T. Fujita, Michael P. DiLorenzo, Usha Krishnan, Mariel E. Turner, Oliver M. Barry, Alejandro J. Torres, Emile A. Bacha, David Kalfa, Matthew A. Crystal Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian.United States Pediatric CardiologyPediatr Cardiol 2023;DOI: 10.1007/s00246-023-03214-w AbstractPulmonary vein stenosis (PVS) in children is a challenging condition with poor outcomes. Post-operative

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Pulmonary vein stenosis: prematurity and associated conditions

David M. Drossner, Dennis W. Kim, Kevin O. Maher, William T. Mahle Emory University School of Medicine.United States PediatricsPediatrics 2008; 122: e656-e661DOI: 10.1542/peds.2008-0075 AbstractObjective: Pulmonary vein stenosis is a rare, although often lethal, anomaly. Risk factors for the diagnosis of pulmonary vein stenosis are poorly characterized. In this study we sought to identify factors associated with pulmonary

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Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome

Daisuke Kobayashi, Amanda L. Cook, Derek A. Williams Wake Forest University School of Medicine.United States Pediatric PulmonologyPediatr Pulmonol 2010; 5: 727-729DOI: 10.1002/ppul.21215 AbstractWe report on an African-American male with Cantu syndrome who required a pericardial window for a significant pericardial effusion in infancy and was subsequently found to have partial pulmonary venous obstruction (PVO) leading to

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