Genetic Factors Associated With Pulmonary Vascular Disease

Unusual Clinical Course of Pediatric Pulmonary Hypertension with Underlying SOX17 Mutation

Aldana Rojas, David L. S. Morales, Kathryn A. Wikenheiser-Brokamp, Don Hayes Jr.Cincinnati Children’s Hospital Medical Center and University of Cincinnati.United States Annals of the American Thoracic SocietyAnn Am Thorac Soc 2026; DOI: 10.1093/annalsats/aaoag216 AbstractAbstract Not Available CategoryClass I. Heritable Pulmonary HypertensionGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed

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A Case of High Pressure and High Stakes: Pulmonary Arterial Hypertension Emergence in an Infant With Hereditary Hemorrhagic Telangiectasia

Amal Ahmed, Anna M. Brown, Samantha J. Eagle, Evan L. Brittain, Anna R. Hemnes, Rachel T. Sullivan, Eric D. AustinMeharry Medical College School of Medicine. Vanderbilt University Medical Center and Monroe Carell Jr. Children’s Hospital. United States Pulmonary CirculationPulm Circ 2026; 16: DOI: 10.1002/pul2.70375 AbstractHereditary hemorrhagic telangiectasia (HHT) is an autosomal‑dominant vascular disease characterized by telangiectasias

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Respiratory-Related Hospital Admissions in Children and Young Adults With Down Syndrome

Emily DeBoer, Kristine Wolter-Warmerdam, Rebecca Bernstein, Arwen Jackson, Jennifer Maybee, Karen Kelminson, Francis HickeyUniversity of Colorado and Children’s Hospital Colorado.United States Hospital Pediatrics Hosp Pediatr 2026; DOI: 10.1542/hpeds.2025-008731 AbstractBackground: Children with Down syndrome (DS) have an increased risk for hospitalization and intensive care owing to respiratory illnesses; however, current research does not specify which co-occurring diagnoses increase

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Expanding the phenotypic and genotypic spectrum of KCNT1-related epilepsies

Mathilde Gras, Gaelle Quentin-Romand, Nicole Chemaly, Giulia Barcia, KCNT1 consortium and Rima NabboutNecker Enfants Malades Hospital and Université Paris Cité. France Brain CommunicationsBrain Commun 2026; 8: DOI: 10.1093/braincomms/fcag256 AbstractThe KCNT1 gene encodes for a sodium-activated potassium channel involved in neuronal excitability. Since its initial description in 2012 in patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)

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Reduced KLF4 expression in endothelial cells triggers pulmonary vascular abnormalities associated with experimental congenital diaphragmatic hernia

Heleen M. Kool, Petra E. Bürgisser, Gabriela G. Edel, Anne Boerema-de Munck, Marjon Buscop-van Kempen, Panagiotis Liakopoulos, Petros Kolovos, Wilfred F. J. Ijcken, Robbert J. RottierSophia Children’s Hospital. Erasmus Medical Center. Democritus University of Thrace. Netherlands and Greece Cellular and Molecular Life SciencesCell Mol Life Sci 2026; DOI: 10.1007/s00018-026-06319-6 AbstractCongenital diaphragmatic hernia (CDH) is a rare

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A large animal model of heritable pulmonary arterial hypertension using gene-edited BMPR2 sheep

Sanjeev A. Datar, Nicholas Werry, Austin R. Brown, Devon S. Fitzpatrick, Oluwafemi Falade, Josephine F. Trott, Rachel Hutchings, Elena K. Amin, Jessica M. Morgan, Hythem Nawaytou, Gail H. Deutsch, Eric G. Johnson, Omar A. Gonzales Viera, Thomas F. Bishop, Tara Urbano Beach, Bret R. McNabb, Eric D. Austin, Jeffrey R. Fineman, Alison L. Van EenennaamUniversity

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Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort

Diana Marangu-Boore, Katherine Myint-Hpu, Esther Kang, Luigi D. Notarangelo, Ottavia M. DelmonteNational Institutes of Health. University of Nairobi. United States and Kenya Journal of Clinical ImmunologyJ Clin Immunol 2026; DOI: 10.1007/s10875-026-02044-8 AbstractPurpose: Bronchiectasis poses a serious but incompletely defined burden in patients with inborn errors of immunity (IEI). We determined its prevalence, independent predictors, and cardiopulmonary complications

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Alveolar capillary dysplasia with misalignment of pulmonary veins in neonates: a multicenter cohort study

Prithvi Sendi, Paul Martinez, Kaitlin Kobaitri, Balagangadhar R. TotapallyNicklaus Children’s Hospital. Herbert Wertheim College of Medicine and Florida International University.United States Pediatric ResearchPediatr Res 2026; DOI: 10.1038/s41390-026-05265-0 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare developmental lung disorder associated with high neonatal mortality. We aimed to describe the epidemiology, resource utilization, and

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Alveolar Capillary Dysplasia With Misaligned Pulmonary Veins (ACDMPV): Description of Two Cases and Literature Review

Eleanora Guasti, Giacomo Tardini, Silvia Buratti, Chiara Campone, Erika Alboreto, Martino Cheli, Francesca Faravelli, Daniela Pirlo, Andrea MoscatelliUniversity of Genoa. IRCCS Istituto Giannina Gaslini. Italy Pediatric PulmonologyPediatr Pulmonol 2026; 61: DOI: 10.1002/ppul.71704 AbstractIntroduction: Alveolar capillary dysplasia with misaligned pulmonary veins (ACDMPV) is one of the major causes of neonatal interstitial lung disease, causing persistent pulmonary hypertension (PH)

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An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension

Abdullah Aldalaan, Seba Nadeef, Ebtissal Khouj, Fayez Alahmadi, Bayan Aljamal, Noura Alturaif, Nadeen Alharbi, Firdous Abdulwahab, Mashael Alqahtani, Fatima Alzubi, Omar Abuyousef, Mais O. Hashem, Hamdiah Zaytoun, Hanadi Alhamoud, Tarfa Alshidi, Amal Jaafar, Lama Alabdi, Fowzan S. AlkurayaKing Faisal Specialist Hospital and Research Center. Lifera Omics.Saudi Arabia Clinical GeneticsClin Genet 2026; DOI: 10.1111/cge.70191 AbstractGrowth differentiation factor

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