Genetic Factors Influencing the Onset, Severity or Outcome of Disease

Pulmonary vein stenosis: Treatment and challenges

Rachel D. Vanderlaan, Jonathan Rome, Russel Hirsch, Dunbar Ivy, Christopher A. CaldaroneHospital for Sick Children. Children’s Hospital of Philadelphia. Cincinnati Children’s Hospital. Children’s Hospital Colorado. Texas Children’s Hospital and Baylor College of Medicine.Canada and United States Journal of Thoracic and Cardiovascular SurgeryJ Thorac Cardiovasc Surg 2021; 161: 2169-2176DOI: 10.1016/j.jtcvs.2020.05.117 AbstractNo Abstract CategoryStenosis or Obstruction of Normal […]

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Pulmonary Vein Stenosis: Incremental Knowledge Gains to Improve Outcomes

Rachel D. Vanderlaan, Christopher A. Caldarone Hospital for Sick Children. Texas Children’s Hospital.Canada and United States ChildrenChildren 2021; 8DOI: 10.3390/children8060481 AbstractPulmonary vein stenosis remains a considerable clinical challenge, with high mortality still present in children with progressive disease. In this review, we discuss the clinical spectrum of pulmonary vein stenosis and what is known about the

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Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis

Abbas H. Zaidi, Jessica M. Yamada, David T. Miller, Kerry McEnaney, Christina Ireland, Amy E. Roberts, Kimberlee Gauvreau, Kathy J. Jenkins, Ming Hui Chen Boston Children’s Hospital and Harvard Medical School.United States ChildrenChildren 2021; 8DOI: 10.3390/children8020128 AbstractPulmonary vein stenosis (PVS) is a rare, frequently lethal disease with heterogeneous phenotypes and an unclear etiology. Limited studies have

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Longer Exposure to Left-to-Right Shunts Is a Risk Factor for Pulmonary Vein Stenosis in Patients with Trisomy 21

Connie Choi, Kimberlee Gauvreau, Philip Levy, Ryan Callahan, Kathy J. Jenkins, Minghui Chen Harvard Medical School and Boston Children’s Hospital.United States ChildrenChildren 2021; 8DOI: 10.3390/children8010019 AbstractWe conducted a study to determine whether patients born with Trisomy 21 and left-to-right shunts who develop pulmonary vein stenosis (PVS) have a longer exposure to shunt physiology compared to those

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Left hypoplastic lung and hemoptysis-rare familial unilateral pulmonary vein atresia

Ronly Har-Even Cohn, Matthew Hicks, Atilano Lacson, Anne Hicks University of Alberta.Canada Clinical Case ReportsClin Case Rep 2020; 8: 1698-1703DOI: 10.1002/ccr3.2982 AbstractUnilateral pulmonary vein atresia (UPVA) is a rare congenital vascular malformation with obliteration of the pulmonary vein. We present a case series of three siblings with variable presentation of UPVA. We suggest a dominant genetic cause based on different

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Repair of Total Anomalous Pulmonary Venous Connection: Risk Factors for Postoperative Obstruction

Brian R. White, Deborah Y. Ho, Jennifer A. Faerber, Hannah Katcoff, Andrew C. Glatz, Christopher E. Mascio, Paul Stephens Jr., Meryl S. Cohen Children’s Hospital of Philadelphia.United States Annals of Thoracic SurgeryAnn Thorac Surg 2019; 108: 122-129DOI: 10.1016/j.athoracsur.2019.02.017 AbstractBackground: Pulmonary venous obstruction after repair of total anomalous pulmonary venous connection (TAPVC) results in substantial morbidity and mortality.

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Progressive pulmonary vein stenosis in Down syndrome infant: a rare cause of pulmonary hypertension

Norazah Zahari, Joyce Darshinee Dom Sirisani University of Malaya.Malaysia Medical Journal of MalaysiaMed J Malaysia 2018; 73: 119-120DOI: Not available AbstractPulmonary veins stenosis in a Down Syndrome infant with normal connection pulmonary vein is rare and precise incidence of this disease is unknown. We report a case of progressive multiple pulmonary vein stenosis in a

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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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