Genetic Factors Associated With Pulmonary Vascular Disease

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

Paul Upton, Susan Richards, Angela Bates, Karen Y. Niederhoffer, Nicolas W. Morrell, Susan ChristianUniversity of Cambridge. Stollery Children’s Hospital. University of Alberta.United Kingdom and Canada American Journal of Medical Genetics Part AAm J Med Genet A 2023; 191: 228-233DOI: 10.1002/ajmg.a.62996 AbstractPulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing […]

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Transpulmonary generation of cell-free hemoglobin contributes to vascular dysfunction in pulmonary arterial hypertension via dysregulated clearance mechanisms

Jamie E. Meegan, Vern Eric Kerchberger, Niki L. Fortune, Joel Brennan McNeil, Julie A. Bastarache, Eric D. Austin, Lorraine B. Ware, Anna R. Hemnes, Evan L. BrittainVanderbilt University Medical CenterUnited States Pulmonary CirculationPulm Circ 2023; 13: DOI: 10.1002/pul2.12185 AbstractCirculating cell-free hemoglobin (CFH) is elevated in pulmonary arterial hypertension (PAH) and associated with poor outcomes but the

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Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Christina A. Eichstaedt, Catharina Belge, Wendy K. Chung, Stefan Gräf, Ekkehard Grünig, David Montani, Rozenn Quarck, Jair A. Tenorio-Castano, Florent Soubrier, Richard C. Trembath, Nicholas W. MorrellHeidelberg University Hospital. University of Leuven. Columbia University. University of Cambridge. Université Paris-Saclay. Hôpital Marie Lannelongue. Hospital Universitario La Paz. Centro de Investigación Biomédica en Red de Enfermedades Raras.

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Right Ventricular Maladaptation to Pressure Overload in Fischer Rats Is Associated With Profound Deficiency in Adenylate Kinase 1 and Impaired Ventricular Energetics

Jason G. E. Zelt, Virgilio Cadete, Yupu Deng, Rafael Godoy, Alexanne Cuillerier, Katelynn Rowe, Mohammad Abdul-Ghani, Lynn Megeney, Yan Burelle, Antonio Giulivi, Alexandre F. R. Stewart, Steeve Provencher, Sandra Breuils-Bonnet, Sébastien Bonnet, Robert deKemp, Rob Beanlands, Lisa M. Mielniczuk, Duncan J. StewartUniversity of Ottawa.Canada HypertensionHypertension 2022; 79: 2774-2786DOI: 10.1161/HYPERTENSIONAHA.122.19300 AbstractBackground: We explored the mechanism of maladaptive right

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An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants

David Montani, Benoit Lechartier, Barbara Girerd, Mélanie Eyries, Maria-Rosa Ghigna, Laurent Savale, Xavier Jaïs, Andrei Seferian, Mitja Jevnikar, Athénais Boucly, Marianne Riou, Julie Traclet, Ari Chaouat, Maryline Levy, Jerome LePavec, Elie Fadel, Frédéric Perros, Florent Soubrier, Martine Remy-Jardin, Olivier Sitbon, Damien Bonnet, Marc HumbertHôpitaux de Paris, Université Paris-Saclay, Hôpital Marie Lannelongue, Hôpital Pitié-Salpêtrière, Nouvel Hôpital

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Dysregulated Smooth Muscle Cell BMPR2–ARRB2 Axis Causes Pulmonary Hypertension

Lingli Wang, Jan Renier Moonen, Aigin Cao, Sarasa Isobe, Caiyun G. Li, Nancy F. Tojais, Shalina Taylor, David P. Marciano, Pi-I. Chen, Mingxia Xu, Dan Li, Rebecca L. Harper, Nesrine El-Bizri, YuMee Kim, Kryn Stankunas, Marlene RabinovitchStanford University School of Medicine, Howard Hughes Medical Institute, and Lucille Packard Children’s HospitalUnited States Circulation ResearchCirc Res 2023;

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Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension

Megan Griffiths, Jun Yang, Dhananjay Vaidya, Melanie Nies, Stephanie Brandal, D. Dunbar Ivy, Francis Hickey, Kristine Wolter-Warmerdam, Eric D. Austin, Mary Mullen, Michael W. Pauciulo, Katie A. Lutz, Erika B. Rosenzweig, Russel Hirsch, Delphine Yung, William C. Nichols, Allen D. EverettJohns Hopkins University. University of Colorado and Children’s Hospital Colorado. Vanderbilt University. Harvard University and

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Pulmonary Hypertension in Children with Down Syndrome: Results from the Pediatric Pulmonary Hypertension Network Registry

Rachel K. Hopper, Steven H. Abman, Eleni G. Elia, Catherine M. Avitabile, Delphine Yung, Mary P. Mullen, Eric D. Austin, Angela Bates, Stephaie S. Handler, Jeffery A Feinstein, D. Dunbar Ivy, John P. Kinsella, Kenneth D. Mandel, J. Usha Raj, Lynn A. SleeperPediatric Pulmonary Hypertension Network InvestigatorsUnited States and Canada Journal of PediatricsJ Pediatr 2023;

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Prevalence of variants in methylenetetrahydrofolate reductase and the severity of pulmonary vascular disease

Ronald W. Day, Gordon K. Mack, Andrea M. Barker, Tiffany Q. Rees, Lynda O. Jorgensen, Lorenzo D. BottoUniversity of Utah and Primary Children’s HospitalUnited States Pediatric CardiologyPediatr Cardiol 2015; 36: 524-530DOI: 10.1007/s00246-014-1044-x AbstractPulmonary hypertension is a serious disease associated with constriction, cellular proliferation, inflammation, and in situ thrombosis of the small vessels of the lung. Some

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A long-term survivor with alveolar capillary dysplasia

Chandler E. Yost, Angelica R. Putnam, Megan K. Dishop, Lynda O. Jorgenson, Paul E. Wirkus, Ronald W. DayUniversity of Utah, Primary Children’s Hospital, Phoenix Children’s Hospital and Wasatch PediatricsUnited States Journal of the American College of Cardiology Case ReportsJACC Case Rep 2020; 2: 1492-1495DOI: 10.1016/j.jaccas.2020.05.055 AbstractA patient with alveolar capillary dysplasia has survived more than 56

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