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

ABCA3 mutation-induced congenital pulmonary surfactant deficiency: A case report

Chunxia Lei, Chunhui Wan, Caixia LiuWuhan Children’s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College and Huazhong University of Science and Technology. Taihe Hospital and Hubei University of Medicine.China MedicineMedicine 2024; 103: DOI: 10.1097/MD.0000000000037622 AbstractIntroduction: Congenital surfactant deficiency, often caused by mutations in genes involved in surfactant biosynthesis such as ABCA3, presents a significant challenge […]

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Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure

Dana R. Tower, Ronald W. Day, Tighe Marrone, Rachel Palmquist, Lincoln D. Nadauld, Joshua L. Bonkowsky, Sabrina Malone JenkinsUniversity of Utah School of Medicine and Primary Children’s Hospital. Intermountain Precision Genomics. United States Cold Spring Harbor Molecular Case StudiesCold Spring Harb Mol Case Stud 2024; 9:DOI: 10.1101/mcs.a006292 AbstractAlveolar capillary dysplasia (ACD) is a fatal disorder that

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Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing

Tetsuo Onda, Takuma Akimoto, Itaru Hayasaka, Masahiko Ikeda, Yuta Furuse, Akiko Ando, Yuichi Nakamura, Ryota Honjo, Atsushi Manabe, Itsuko Furuta, Kazutoshi ChoHokkaido University Hospital. Japan Early Human DevelopmentEarly Hum Dev 2021; 155:DOI: 10.1016/j.earlhumdev.2021.105323 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare and fatal disorder that occurs in the developing fetal lungs; at

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Twins with alveolar capillary dysplasia with misalignment of pulmonary veins: Strategies for diagnosis and management

Sinead Brady, Usha Krishnan, Anjali Saqi, Diana VargasNew York Presbyterian-Morgan Stanley Children’s Hospital and Columbia University Irving Medical Center.United States Journal of Neonatal-Perinatal MedicineJ Neonatal Perinatal Med 2024; 17: 147-152DOI: 10.3233/NPM-230085 AbstractWe present a case of dichorionic-diamniotic twin females who developed hypoxemic respiratory failure. They were ultimately diagnosed by lung biopsy with alveolar capillary dysplasia with

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Pulmonary Hypertension in Developmental Lung Diseases

Olivier Danhaive, Csaba Galambos, Satyan Lakshminrusimha, Steven H. AbmanSaint-Luc University Hospital and University of California San Francisco. University of Colorado Anschutz School of Medicine. University of California, UC Davis Children’s Hospital.Belgium and United States Clinics in PerinatologyClin Perinatol 2024; 51: 217-235DOI: 10.1016/j.clp.2023.12.001 AbstractDiverse genetic developmental lung diseases can present in the neonatal period with hypoxemic respiratory

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A rare presentation of childhood interstitial lung disease attributed to KDM3B gene mutation: a case report

Zaineb Benslimane, Sinan Yavuz, Nader FrancisAl Qassimi Women and Children Hospital.United Arab Emirates PanAfrican Medical JournalPan Afr Med J 2023; 46DOI: 10.11604/pamj.2023.46.84.41457 AbstractChildhood Interstitial Lung Disease (chILD) encompasses various respiratory conditions affecting children’s lung airspaces and tissues, with diverse causes. One rare cause involves structural vascular changes. We describe a case of a 10-year-old boy diagnosed

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Twins with alveolar capillary dysplasia with misalignment of pulmonary veins: Strategies for diagnosis and management

Sinead Brady, Usha Krishnan, Anjali Saqi, Diane VargasNew York Presbyterian-Morgan Stanley Children’s Hospital and Columbia University Irving Medical CenterUnited States Journal of Neonatal and Perinatal MedicineJ Neonatal Perinatal Med 2024;DOI: 10.3233/NPM-230085 AbstractWe present a case of dichorionic-diamniotic twin females who developed hypoxemic respiratory failure. They were ultimately diagnosed by lung biopsy with alveolar capillary dysplasia with

Twins with alveolar capillary dysplasia with misalignment of pulmonary veins: Strategies for diagnosis and management Read More »

Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children

Helio V. Neves da Silva, Jason P. Weinman, Erin K. Englund, Robin R. Deterding, D. Dunbar Ivy, Lorna P. BrowneChildren’s Hospital Colorado and University of Colorado School of Medicine, Anschutz Medical Campus. Highland Hospital. United States Pediatric RadiologyPediatr Radiol 2024;DOI: 10.1007/s00247-023-05848-7 AbstractBackground: Mutations in the T-Box 4 (TBX4) gene are a lesser-known cause of heritable pulmonary arterial

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Lung biopsies in infants and children in critical care situation

Yaül Levy, Lauren Bitton, Chiara Sileo, Jérome Rambaud, Yohan Soreze, Camille Louvrier, Hubert Ducou le Pointe, Harriet Corvol, Erik Hervieux, Sabine Irtan, Pierre-Louis Leger, Blandine Prévost, Aurore Coulomb, L’Herminé, Nadia NathanArmand Trousseau Hospital and Sorbonne University. Centre de recherche Saint Antoine. France Pediatric PulmonologyPediatr Pulmonol 2023;DOI: 10.1002/ppul.26845 AbstractIntroduction: Lung biopsy is considered as the last step investigation

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Diminished TMEM 100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report

Przemyslaw Szafranski, Silvia Patrizi, Thomasz Gambin, Bushra Afzal, Emily Schlotterbeck, Justyna A. Karolak, Gail Deutsch, Drucilla Roberts, Pawel StankiewiczBaylor College of Medicine. Brigham and Women’s Hospital, Newton-Wellesley Hospital and Harvard Medical School. Warsaw University of Technology. Massachusetts General Hospital.  Poznan University of Medical Sciences. University of Washington School of Medicine.United States and Poland Pediatric and

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