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

Pectus excavatum repair during lung transplantation in a 5-year-old: A case report

Marisa E. Schwab, Elisabeth Martin, Xin Si, Stephanie D. ChaoLucile Packard Children’s Hospital, Stanford University School of Medicine.United States Interdisciplinary Cardiovascular and Thoracic SurgeryInterdiscip Cardiovasc Thorac Surg 2025; DOI: 10.1093/icvts/ivaf263 AbstractChest wall deformities are considered a risk factor for lung transplantation. A 5-year-old girl with protein surfactant C deficiency, interstitial lung disease, pulmonary hypertension, pectus excavatum […]

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Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort

Manon Fleury, Céline Delestrain, Alice Hadchouel, Julie Mazenq, Myriam Benhamida, Anne‐Sophie Bernard, Raphaël Borie, Jacques Brouard, Harriet Corvol, Pierrick Cros, Christophe Delacourt, Tifenn Desroziers, Jean‐Christophe Dubus, Carole Egron, Ralph Epaud, Michael Fayon, Aude Forgeron, Lisa Giovannini‐Chami, Christophe Marguet, Alexandra Masson‐Rouchaud, Hortense Petat, Marie‐Catherine Renoux, Léa Roditis, Caroline Thumerelle, Clémentine Vigier, Aurore Coulomb L’Herminé, Hubert Ducou

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A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes

Xiaolei Tang1 , Shunying Zhao, Yuelin Shen1, Yu Tang, Xingfeng Yao, Hui Xu, Hui Liu, Xiaoyan Zhang, Xiao Li, Yanqiong Wang, Haiming YangBeijing Children’s Hospital, National Center for Children’s Health and Capital Medical University. Henan Children’s Hospital, Zhengzhou Children’s Hospital and Children’s Hospital Affiliated to Zhengzhou University. Children’s Hospital of Xinjiang Uygur Autonomous Region, Xinjiang

A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes Read More »

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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Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather

Przemyslaw Szafranski, Tomasz Gambin Michal Kadlof, Michal Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Pawel StankiewiczBaylor College of Medicine and Texas Children’s Hospital. Warsaw University of Technology. University of Warsaw. University of Washington School of Medicine. Federal University of Paraná.United States, Poland and Brazil Clinical GeneticsClin Genet 2025; DOI: 10.1111/cge.70010 AbstractSingle

Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather Read More »

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

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

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

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

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 »

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