Genetic Factors Associated With Pulmonary Vascular Disease

p53 maintains lineage fidelity during lung capillary injury-repair in neonatal hyperoxia

Lisandra Vila Ellis, Jonathan D. Bywaters, Amanda Ceas, Yun Liu, Jennifer M. S. Sucre, Jichao ChenNorthwestern University.  Vanderbilt University Medical Center. Cincinnati Children’s Hospital Medical Center.United States Journal of Clinical Investigation InsightsJCI Insights 2025;DOI: 10.1172/jci.insight.182880 AbstractBronchopulmonary dysplasia (BPD), a prevalent and chronic lung disease affecting premature newborns, results in vascular rarefaction and alveolar simplification. Although the […]

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Hereditary hemorrhagic telangiectasia in pediatrics: descriptive study in a specialized unit

Magalí Squitín Tasende, Nicolás Guerrero Serravalle, Lucía G. Pérez, Ana Braslavsky, Marcelo SerraHospital Italiano de Buenos Aires and Universidad Hospital Italiano.Argentina Archivos Argentinos de PediatríaArch Argent Pediatr 2025; DOI: 10.5546/aap.2025-10661.eng AbstractIntroduction. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by bleeding telangiectasias and arteriovenous malformations (AVMs) in the brain, lungs, liver, and gastrointestinal

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Pharmacologic Management of Segmental Pulmonary Hypertension in Children After Unifocalization and Pulmonary Artery Reconstruction: Initial Experience

Julian E. Cameron, Doff B. McElhinney, Esther Liu, Rachel K. Hopper, Ritu Asija, Manchula Navaratnam, Frank L. Hanley, Jeffrey A. FeinsteinLucile Salter Packard Children’s Hospital and Stanford University School of Medicine. Children’s Hospital Los Angeles and Keck School of Medicine University of Southern California.United States Pulmonary CirculationPulm Circ 2025; 15: DOI: 10.1002/pul2.70134 AbstractSegmental pulmonary hypertension (PH)

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Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia

Ze-yang Chen, Yuan Cao, Jie Yang, Xue-hua He, Li-ping Liu, Yong-hua YuanQingdao University School of Medicine. Hunan Provincial People’s Hospital and First Affiliated Hospital of Hunan Normal University.China Frontiers in PediatricFront Pediatr 2025; DOI: 10.3389/fped.2025.1642390 AbstractBackground: FBN1 gene mutation-associated geleophysic dysplasia (GD) leads to the formation of complex and refractory pulmonary hypertension (PH) through a multifactorial combination

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Rare variants in STAB2 in patients with chronic thromboembolic pulmonary hypertension

Mark W. Dodson, Kristina Allen-Brady, Jeffrey Stevens, Meghan M. Cirulis, Mona Alotaibi, Timothy M. Fernandes, Nick H. Kim, Kim M. Kerr, Demosthenes G. Papamatheakis, David S. Poch, Julianna Desmarais, D. Hunter Best, Nathan D. Hatton, John J. Ryan, C. Gregory Elliott, Lisa A. Cannon-AlbrightIntermountain Medical Center. University of Utah and University of Utah School of

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Experience of the Pediatric Department at the Mohammed VI University Hospital Center in Oujda on Trisomy 21 and Congenital Heart Defects: What Is the Reality in the Oriental Region of Morocco?

Abdeladim Babakhouya, Chaymae Yechouti, Chaimae Salhi, Aziza Elouali, Maria RkainUniversity Hospital Center of Mohammed VI and Mohammed Premier University.Morocco CureusCureus 2-25; 17: DOI: 10.7759/cureus.86689 AbstractIntroduction. Trisomy 21 (T21), or Down syndrome, is frequently associated with congenital heart defects (CHDs). This study aims to describe the epidemiological, clinical, and para-clinical profile of CHDs in children with trisomy

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Snijders Blok-Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report

Luisa Paul, Victoria C. Ziesenitz, Matthias GorenfloUniversity Hospital.Germany ReportsReports 2025; 8: DOI: 10.3390/reports8020047 AbstractBackground and Clinical Significance: We report on an infant with Snijders Blok-Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension. Case Presentation: A DDX3X mutation encoding for RNA helicase was detected, which may suggest an association between Snijders Blok-Campeau

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Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review

Yiting Chen, Wenhe Zang, Haoyuan Zhong, Xianqin Deng, Wenting Zhong, Lianyu Wang, Xinying ChenSecond Affiliated Hospital of Guangzhou University of Chinese Medicine and Guangdong Provincial Hospital of Chinese Medicine.China Frontiers in ImmunologyFront Immunol 2025; 15: DOI: 10.3389/fimmu.2025.1615075 AbstractSTING-associated vasculopathy with onset in infancy (SAVI) represents an identified rare type I interferonopathy, triggered by gain-of-function mutations in

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Genetic features of alveolar capillary dysplasia with misalignment of pulmonary veins in Japanese infants

Masahiko Ikeda, Kazutoshi Cho, Yuta Furuse, Tetsuo Onda, Akiko Ando, Yuichi Nakamura, Yosuke Kaneshi, Atsushi ManabeHokkaido University Hospital. Japan Community Healthcare Organization Hokkaido Hospital. Hokkaido University.Japan Early Human DevelopmentEarly Hum Dev 2025; DOI: 10.1016/j.earlhumdev.2025.106287 AbstractBackground: The genetic features of alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) among infants in Japan have not been extensively evaluated.Methods: This

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Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar

Christina A. Eichstaedt, Gabriel Maldonado-Velez, Rajiv D. Machado, Stefan Gräf, Dennis Dooijes, Srimmitha Balachandar, Florence Coulet,Kristina Day, Melanie Eyries, Daniela Macaya, Memoona Shaukat, Laura Southgate, Jair Tenorio-Castano, Wendy K. Chung, Carrie L. Welch, Micheala A. AldredThoraxklinik-Heidelberg gGmbH, Heidelberg University Hospital and Translational Lung Research Center (TLRC), German Center for Lung Research (DZL).  Indiana University School

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar Read More »

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