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

Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard?

Whitney S. Thompson, Ellen M. Bendel-Stenzel, Brendan C. Lanpher, Grace M. Arteaga, Raymond C. Stetson, Stephanie C. MavisMayo Clinic.United States NeonatologyNeonatology 2023; DOI: 10.1159/000529439 AbstractClassic alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare congenital lung disorder presenting in the early neonatal period with refractory hypoxemic respiratory failure and pulmonary hypertension. No curative […]

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Case-based discussion: neonates on extracorporeal membrane oxygenation for undiagnosed recalcitrant pulmonary hypertension-management challenges

John A. King, Ajay Desai, Tom Semple, Andrew G. Nicholson, Andrew Bush, Samantha SonnappaRoyal Brompton Hospital. Imperial College London.United Kingdom ThoraxThorax 2023; 78: 107-109DOI: 10.1136/thorax-2021-217857 AbstractWe present two neonates requiring extracorporeal membrane oxygenation for undiagnosed recalcitrant pulmonary hypertension, highlighting the clinical and ethical dilemmas in management of very rare diseases. CategoryClass I. Persistent Pulmonary Hypertension of

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Rapid genetic diagnosis of neonatal persistent pulmonary hypertension with a novel FOXF1 mutation

Jeng-Hung Wu, Yu-Jui Wang, Jay-Yu Liau, Ni-Chung Lee, En-Ting WuNational Taiwan University Hospital and National Taiwan University College of Medicine.Taiwan Pediatrics and NeonatologyPediatr Neonatol 2023; DOI: 10.1016/j.pedneo.2022.12.010 AbstractNo Abstract CategoryClass III. Pulmonary Hypertension Associated with Developmental Diseases of the LungGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication:

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Descriptive images and features of pulmonary vascular disease in a child with a FOXF1 variant

Ronald W. Day, Khanh V. Lai, Hailey N. Baisch, Isabel C. LauUniversity of Utah and Primary Children’s Hospital. St. Luke’s Children’s Treasure Valley Pediatrics. Mountainstar Ogden Pediatrics.United States Pediatric PulmonologyPediatr Pulmonol 2023; DOI: 10.1002/ppul.26480 AbstractNo abstract CategoryClass III. Pulmonary Hypertension Associated with Developmental Diseases of the LungGenetic Factors Associated with Pulmonary Vascular DiseaseDiagnostic Testing for Pulmonary

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Novel FOXF1-Stabilizing Compound TanFe Stimulates Lung Angiogenesis in Alveolar Capillary Dysplasia

Arun Pradhan, Lixiao Che, Vladimir Ustiyan, Abid A. Reza, Nicole M. Pek, Yufang Zhang, Andrea B. Alber, Timothy R. Kalin, Jennifer A. Wambach, Mingxia Gu, Darrell N. Kotton, Matthew E. Siefert, Assem G. Ziady, Tanya V. Kalin, Vladimir V. KalinichenkoBoston University and Boston Medical Center. University of Cincinnati. Washington University in St. Louis School of

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High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

Esra Yıldız Bölükbaşi, Tomasz Gambin, Justyna A. Karolak, Nicholas Willard, Przemyslaw Szafranski, Steven H. Abman, Csaba Galambos, John P. Kinsella, Paweł StankiewiczBaylor College of Medicine. Poznan University of Medical Sciences. Warsaw University of Technology. University of Colorado Anschutz Medical Campus.United States and Poland Molecular Genetics and Genomic MedicineMol Genet Genomic Med 2022; 10: DOI: 10.1002/mgg3.2062 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) results

High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV Read More »

Congenital Surfactant C Deficiency with Pulmonary Hypertension – A Case Report

Wei Chard Chua, I-Chen Chen, Yi-Ching Liu, Yen-Hsien Wu, Shih-Hsing Lo, Jong-Hau Hsu, Peir-In Liang, Hsiu-Lin Chen, Zen-Kong DaiKaohsiung Medical University Hospital. Taiwan ChildrenChildren 2022; 9: DOI: 10.3390/children9101435 AbstractInterstitial lung diseases in children are a diverse group in terms of etiology and pathogenesis. With advances in genetic testing, mutations in surfactant protein have now been identified

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A Morphomolecular Approach to Alveolar Capillary Dysplasia

Jan C. Kamp, Lavinia Neubert, Maxmilian Ackermann, Helge Stark, Edith Plucinski, Harshit R. Shah, Sabina Janciauskiene, Anke K. Bergmann, Gunnar Schmidt, Tobias Welte, Axel Haverich, Christopher Werlein, Peter Braubach, Florian Laenger, Nicolaus Schwerk, Karen M. Olsson, Jan Fuge, Da-Hee Park, Jonas C. Schupp, Marius M. Hoeper, Mark P. Kuehnel, Danny D. JonigkHannover Medical School. University

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Patent ductus arteriosus and the risk of bronchopulmonary dysplasia-associated pulmonary hypertension

Hythem Nawaytou, Nancy K. Hills, Ronald I. ClymanUniversity of California San Francisco.United States Pediatric ResearchPediatr Res 2023; DOI: 10.1038/s41390-023-02522-4 AbstractBackground: The aim of the study was to determine whether prolonged exposure to a moderate/large patent ductus arteriosus left-to-right shunt (PDA) increases the risk of late (beyond 36 weeks) pulmonary hypertension (BPD-PH) and pulmonary vascular disease (BPD-PVD) during

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High-dose epoprostenol therapy in pediatric patients with pulmonary hypertension and developmental lung disease: A report of two cases

Yoshie Fukusawa, Hidenori Yamamoto, Miharu Ito, Akiko Saito, Kiyotaka Go, Yoshihito Morimoto, Kazushi Yasuda, Yoshiaki Sato, Masahiro Hayakawa, Taichi KatoNagoya University and Nagoya University Hospital. Ogaki Municipal Hospital. Japanese Red Cross Nagoya Daichi Hospital. Aichi Child Health and Medical General Center.Japan Frontiers in Pediatrics. Pediatric Cardiology SectionFront Pediatr 2023; 11: DOI: 10.3389/fped.2023.1116434 AbstractPulmonary hypertension (PH) with

High-dose epoprostenol therapy in pediatric patients with pulmonary hypertension and developmental lung disease: A report of two cases Read More »

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