Class 3. Pulmonary Hypertension Associated with Developmental Diseases of the Lung

Postnatally induced TBX4 insufficiency confers pulmonary hypertension and impairs lung development in infant mice

Caroline F. Smith, Kathy L. Ding, Gregory J. Seedorf, Csaba Galambos, Steven H. AbmanUniversity of Colorado School of Medicine. United States Pediatric ResearchPediatr Res 2025; DOI: 10.1038/s41390-025-04127-5 AbstractBackground: Genetic variants in T-box transcription factor 4 (TBX4) cause pulmonary hypertension (PH); however, there are diverse phenotypes with respect to the timing and severity of disease. Previous mouse studies […]

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Infant lung transplantation: First German experience including two cases of ABO blood group incompatible transplantations

Anna Katharina Zürn, Nicolaus Schwerk, Carsten Müller, Gregor Warnecke, Jawad Salman, Michael Sasse, Harald Köditz, Thomas Jack, Bettina Bohnhorst, Gesine Hansen, Oliver Keil, Katja Nickel, Dmitry Bobylev, Fabio Ius, Julia CarlensHannover Medical School. University Hospital of Schleswig-Holstein. Germany Journal of Heart and Lung Transplantation OpenJHLT Open 2025; 9: DOI: 10.1016/j.jhlto.2025.100251 AbstractBackground: Infant lung transplantation (LuTx) has been

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Bronchopulmonary dysplasia with pulmonary hypertension associates with semaphorin signaling loss and functionally decreased FOXF1 expression

Shawyon P. Shirazi, Nicholas M. Negretti, Christopher S. Jetter, Alexandria L. Sharkey, Shriya Garg, Meghan E. Kapp, Devan Wilkins, Gabrielle Fortier, Saahithi Mallapragada, Nicholas E. Banovich, Laurie C. Eldredge, Gail H. Deutsch, Christopher V. E. Wright, David B. Frank, Jonathan A. Kropski, Jennifer M. S. SucreVanderbilt University Medical Center and Vanderbilt University. Translational Genomics Research

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Prominent Intrapulmonary Shunt Vessels and Altered Lung Development in Infants With Sudden Unexplained Infant Death

Csaba Galambos, Douglas Bush, Steven H. Abman, Michael CaplanUniversity of Colorado School of Medicine. Icahn School of Medicine at Mount Sinai. Lake Erie College of Osteopathic Medicine.United States Journal of PediatricsJ Pediatr 2023; DOI: 10.1016/j.jpeds.2022.10.026 AbstractThe purpose of this study was to evaluate intrapulmonary arteriovenous shunts in patients with and without sudden unexplained infant death. We

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Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report

Hidenori Kawasaki, Kazuhiko Nakabayashi, Masahiko Ikeda, Tetsuo Onda, Seiichi Tomotaki, Masako Torishima, Akiko Saito, Hirofumi Ohashi, Sachiko Minamiguchi, Kenichiro Hata, Masahiro Hayakawa, Masahiko Kawai, Kazutoshi Cho, Shinji Kosugi, akahiro YamadaKyoto University School of Public Health, Kyoto University Hospital and Kyoto University. National Center for Child Health and Development. Hokkaido University Hospital. Nagoya University Hospital. Saitama

Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report Read More »

The Glu86 Residue in TBX4 Proves Critical for Human Lung Development

Przemyslaw Szafranski, Tomasz Gambin, Gail Deutsch, Salma A. Nassef, Mary Clay Dailey, Debra L. Kearney, Pawel StankiewiczBaylor College of Medicine and Texas Children’s Hospital. Warsaw University of Technology. University of Washington School of Medicine. United States and Poland American Journal of Medical Genetics Part AAm J Med Genet A 2024; DOI: 10.1002/ajmg.a.63936 AbstractT-box transcription factors are

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The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins

G. G. Edel, M. van Kempen, A. Boerema‑de Munck, C. N. Huisman, C. A. P. Naalden, R. W. W. Brouwer, S. Koornneef, W. F. J. van IJcken, R. M. H. Wijnen, R. J. RottierErasmus MC-Sophia. Netherlands Journal of Biomedical ScienceJ Biomed Sci 2024; 31: DOI: 10.1186/s12929-024-01088-5 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is

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ASXL1-related Bohring-Optiz Syndrome complicated by Persistent Neonatal Pulmonary Hypertension and Abnormal Alveoli Formation

Makoto Arioka, Shinji Nakamura, Katsufumi Nishioka, Kota Inoue, Yasuhiro Nakao, Yumi Miyai, Hirosuke Morita, Kosuke Koyano, Toshiki Takenouchi, Saneyuki Yasuda, Yoichi Chiba, Takashi Iwase, Masaki Ueno, Takashi KusakaKagawa University Hospital and Kagawa University. Keio University School of Medicine.Japan European Journal of Medical GeneticsEur J Med Genet 2024; DOI: 10.1016/j.ejmg.2024.104978 AbstractBohring-Opitz syndrome (BOS) is a rare disease

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Alveolar capillary dysplasia complicated by subglottic stenosis

Kataro Nagamoto, Hidehiko Maruyama, Akira Ishuguro, Yushi ItoNational Center for Child Health and Development. Japan British Medical Journal Case ReportsBMJ Case Rep 2024; DOI: 10.1136/bcr-2024-261004 AbstractAlveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is an interstitial lung disease. In ACDMPV, respiratory impairment with severe pulmonary hypertension occurs from the early hours of life. Anomalies in

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Atypical presentation and management of a neonate with alveolar capillary dysplasia: A case report

Niki Dermitzaki, Nikitas Chatzigiannis, Maria Baltogianni, Maria E. Kamperi, Antonios Vlahos, Alexandros Makis, Konstantinos Douros, Vasileios GiaprosUniversity of Ioannina. Athens University Medical School and “Attikon” University Hospital.Greese Pediatric PulmonologyPediatr Pulmonol 2024; DOI: 10.1002/ppul.27241 AbstractAbstract Not Available CategoryClass III. Pulmonary Hypertension Associated with Developmental Diseases of the LungMedical Therapy. Efficacy or Lack of Efficacy Age Focus: Pediatric

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