Genetic Factors Associated With Pulmonary Vascular Disease

Long-Term Outcomes of Transarterial Embolization for Pulmonary Arteriovenous Malformations in Pediatric Hereditary Hemorrhagic Telangiectasia

Alfredo Páez-Carpio, Adeline Y. L. Lim, Alessandro Gasparetto, Michelle Shaw, Felix Ratjen, João G. AmaralHospital for Sick Children and University of Toronto. Canada Cardiovascular and Interventional RadiologyCardiovasc Intervent Radiol 2025; DOI: 10.1007/s00270-025-04322-1 AbstractPurpose: To assess long-term clinical and radiological outcomes of transarterial embolization (TAE) for pulmonary arteriovenous malformations (PAVMs) in children with hereditary hemorrhagic telangiectasia (HHT).Materials and […]

Long-Term Outcomes of Transarterial Embolization for Pulmonary Arteriovenous Malformations in Pediatric Hereditary Hemorrhagic Telangiectasia Read More »

Decreased endothelial cell retinoic acid signaling accelerates progression of single ventricle pulmonary arteriovenous malformations

Henry Rousseau, Tina Wan, Nhi Nguyen, Jaime Wendt Andrae, Michael Tschannen, Angela J. Mathison, Victor Jin, Olivia Groh, Xingyan Zhou, Stryder M. Meadows, Ramani Ramchandran,Igor Shmarakov, Amy Y. Pan, Andrew D. SpearmanMedical College of Wisconsin and Children’s Wisconsin. Rutgers University. Tulane University. United States bioRxivbioRxiv 2025; DOI: 10.64898/2025.12.08.693095 AbstractBackground: Pulmonary arteriovenous malformations (PAVMs) are vascular complications that

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Construction of an early diagnostic model for pulmonary hypertension based on aging-related signature genes and identification of potential therapeutic targets

MengzeWang, Jiafei Lu, Xinyu Li, Huating Xie, Junjie Liang, Jun Luo, Xishu Deng, Guoquan Pan, Bowen Ji, Xiaojie DingKunming Children’s Hospital. Southern Medical University. Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical University. Taizhou Central Hospital (Taizhou University Hospital). Second Hospital of Jiaxing and Second Affiliated Hospital of Jiaxing University. Zhejiang Rongjun Hospital.

Construction of an early diagnostic model for pulmonary hypertension based on aging-related signature genes and identification of potential therapeutic targets Read More »

Reversible Pulmonary Hypertension in CblC Deficiency (MMACHC c.80 A>G): long-term outcomes of metabolic and PH-targeted therapy

Ruxuan He, Jinrong Liu, Xiaolei Tang, Hui Liu, Yuelin Shen, Xioayan Zhang, Huimin Li, Shunying Zhao, Haiming YangBeijing Children’s Hospital and Capital Medical University. Children’s Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Hospital of Beijing Children’s Hospital and Seventh People’s Hospital of Xinjiang Uygur Autonomous Region.China Pediatric ResearchPediatr Res 2025; DOI: 10.1038/s41390-025-04720-8 AbstractBackground: Cobalamin C (cblC) deficiency,

Reversible Pulmonary Hypertension in CblC Deficiency (MMACHC c.80 A>G): long-term outcomes of metabolic and PH-targeted therapy Read More »

SOX17 variants are associated with severe pulmonary arterial hypertension with and without congenital heart disease

Cara Morgan, Laura Southgate, Alistair Calder, Thivya Sekar, Andrew Constantine, Sadia Quyam, Richard Trembath, Shahin MoledinaGreat Ormond Street Hospital for Children. University of London, School of Health & Medical Sciences. Queen Elizabeth Hospital Birmingham. University College London. King’s College London. United Kingdom International Journal of CardiologyInt J Cardiol 2025; DOI: 10.1016/j.ijcard.2025.134114 AbstractBackground: SOX17 has recently been identified

SOX17 variants are associated with severe pulmonary arterial hypertension with and without congenital heart disease Read More »

Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension

John H. Newman, Timothy N. Holt, Joy D. Cogan, Bethany Womack, John A. Phillips III, Chun Li, Zachary Kendall, Kurt R. Stenmark, Milton G. Thomas, R. Dale Brown, Suzette R. Riddle, James D. West, Rizwan HamidVanderbilt University School of Medicine. Colorado State University. Case Western Reserve University. University of Colorado.United States Nature CommunicationsNat Commun 2015;

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Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy

Lucy Collins, Jessica Sandy, Stephanie Ly, Kate E. Lomax, Sarah Black, Fiona McKenzie, Eadaoin Hayes, Cathryn Poulton, Craig Jefferies, Wendy Hunter, Peter Simm, Christine Rodda, Andrew Biggin, Craig Munns, Aris SiafarikasRoyal Children’s Hospital. Monash University. Children’s Hospital at Westmead. University of Sydney. Perth Children’s Hospital. University of Western Australia. King Edward Memorial Hospital. Starship Children’s

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy Read More »

Noncirrhotic Portopulmonary Hypertension Due to Hepatoportal Sclerosis in Adams-Oliver Syndrome

Jennifer Merk, Delphine Yung, Jason N. Wright, Raj P. KapurUniversity of Washington and Seattle Children’s Hospital.United States PediatricsPediatrics 2025;DOI: 10.1542/peds.2025-073243 AbstractA 13-year-old girl presented for evaluation of pulmonary hypertension after symptoms of dyspnea and exercise intolerance. Full evaluation was negative except for abdominal ultrasonography with splenomegaly and esophageal varices suggestive of portal hypertension. Cardiac and hepatic

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[Pediatric pneumological aspects in the care of children with Down Syndrome]

Hans Fuchs, Lennart Gunst, Anke Wendt, Sebastian Becker, Ruth Margarethe Grychtol, Dejan Vlajnic, Dorit Aschmann-Muehlhans, Christiane Wuerfel, Mathis Steindor, Svea Muehlberg, Florian StehlingAlbert-Ludwigs-Universität Freiburg. Charité Universitätsmedizin Berlin. Darmstädter Kinderkliniken Prinzessin Margaret. Medizinische Hochschule Hannover. Klinikum Leverkusen. Kinderkrankenhaus St. Marien. Technische Universität Dresden. Heinrich-Heine-Universität Düsseldorf. Universitäts-Kinderspital Zürich. Universität Duisburg-Essen.Germany and Switzerland Klinische PädiatrieKlin Padiatr 2025; DOI: 10.1055/a-2748-4649

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Paediatric pulmonary arterial hypertension following congenital heart defect repair: Enhanced risk stratification and outcomes in a national cohort

Andrew Constantine, Konstantinos Dimopoulos, Robin Condliffe, Paul Clift, Katrijn Jansen, S. John Wort, Grace Chaplin, Kaushiga Krishnathasan, Rami Dhillon, Joydeep Mookerjee, W. Brodie Knight, Caroline B. Jones, Maria N. Velasco Forte, Dirk Wilson, Helen Michael, Alberto Mendoza Soto, Carlos Labrandero, Alejandro Rodríguez Ogando, Antonio Moreno Galdó, Inmaculada Guillén Rodríguez, Lina M. Caicedo Cuenca, Francesca Perin,

Paediatric pulmonary arterial hypertension following congenital heart defect repair: Enhanced risk stratification and outcomes in a national cohort Read More »

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