Genetic Factors Associated With Pulmonary Vascular Disease

Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins

Gabriëla G. Edel, Janna A. Hol, Evelien Slot, Jan H. von der Thüsen, Yolande van Bever, Rogier C.J. de Jonge, Marianne van Tienhoven, Hennie T. Bruggenwirth, Annelies de Klein, Robbert J. RottierErasmus MC Sophia Children’s Hospital. Netherlands Laboratory InvestigationLab Invest 2023; DOI: 10.1016/j.labinv.2023.100233 AbstractAlveolar capillary dysplasia with misalignment of pulmonary Veins (ACDMPV) is a lethal congenital […]

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Acid ceramidase gene therapy ameliorates pulmonary arterial hypertension with right heart dysfunction

Michael G. Katz, Yoav Hadas, Adam Vincek, Lina Freage‑Kahn, Nataly Shtraizent, Jeko M. Madjarov, Peter Pastuszko, Efrat Eliyahu Icahn School of Medicine at Mount Sinai. SeneX Therapeutics Inc. Atrium Health Sanger Heart and Vascular Institute. Wake Forest School of Medicine. United States Respiratory ResearchRespir Res 2023; 24DOI: 10.1186/s12931-023-02487-2 AbstractBackground: Up-regulation of ceramides in pulmonary hypertension (PH), contributing to

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Identification of ACKR4 as an immune checkpoint in pulmonary arterial hypertension

Chen-Yu Jiang, Li-Wei Wu, Yi-Wei Liu, Bei Feng, Lin-Cai Ye, Xu Huang, Yang-Yang He, Yi Shen, Yi-Fan Zhu, Xing-Liang Zhou, Dai-Ji Jiang, Hai-Kun Qi, Hao Zhang, Yi YanShanghai Children’s Medical Center. Henan University. Shanghaitech University. China Frontiers in ImmunologyFront Immunol 2023; DOI: 10.3389/fimmu.2023.1153573 AbstractObjective: Inflammation is recognized as a contributor in the development of pulmonary arterial hypertension

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Atypical Hemolytic-Uremic Syndrome: Genetic Basis, Clinical Manifestations, and a Multidisciplinary Approach to Management

Keval Yerigeri, Saurav Kadatane, Kai Mongan, Olivia Boyer, Linda LG Burke, Sidharth Kumar Sethi, Christoph Licht, Rupesh RainaCase Western Reserve University and The MetroHealth System. University of Oklahoma Health Sciences Center. Northeast Ohio Medical University. Necker-Enfants Malades Hospital. Kidney and Urology Institute. University of Toronto. Akron Children’s Hospital.United States, France and Canada Journal of Multidisciplinary

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Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children

Katharina Schutz, Axel Schmidt, Nicolaus Schwerk, Diane Miriam Renz, Benedicte Gerard, Elise Schaefer, Maria Cristina Antal, Sophia Peters, Matthias Griese, Christina K. Rapp, Hartmut Engels, Kristen Cremer, Anke Katharina Bergmann, Gunnar Schmidt, Bernd Auber, Jan C. Kamp, Florian Laenger, Sandra von HardenbergHannover Medical School. School of Medicine, University Hospital Bonn and University of Bonn. German

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Pulmonary arterial hypertension in children with congenital heart disease: a deeper look into the role of endothelial progenitor cells and circulating endothelial cells to assess disease severity

Juan Calderón-Colmenero, Felipe Massó, Héctor González Pacheco, Julio Sandoval, Carlos Guerrero, Jorge Cervantes Salazar, José A. García-Montes, Araceli Paéz, Gabriela I. Pereira-López, Carlos Zabal-Cerdeira, Juan Pablo SandovalInstituto Nacional de Cardiologia Ignacio Chavez. Mexico Frontiers in PediatricsFront Pediatr 2023; 11DOI: 10.3389/fped.2023.1200395 AbstractEndothelial progenitor cells and circulating endothelial cells have been proposed as useful markers of severity and

Pulmonary arterial hypertension in children with congenital heart disease: a deeper look into the role of endothelial progenitor cells and circulating endothelial cells to assess disease severity Read More »

SOX17 Deficiency Mediates Pulmonary Hypertension: At the Crossroads of Sex, Metabolism, and Genetics

Shreya Sangam, Xutong Sun, Tae-Hwi Schwantes-An, Manivannan Yegambaram, Qing Lu, Yinan Shi, Todd Cook, Amanda Fisher, Andrea L. Frump, Anna Coleman, Yanan Sun, Shuxin Liang, Howard Crawford, Katie A. Lutz, Avinash D. Maun, Michael W. Pauciulo, Jason H. Karnes, Ketul R. Chaudhary, Duncan J. Stewart, Paul R. Langlais, Mohit Jain, Mona Alotaibi, Tim Lahm, Yan

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A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis

Young Bae Sohn, Su Jin Kim, Sung Won Park, Hyung-Doo Park, Chang-Seok Ki, Chi Hwa Kim, Seung Won Huh, Sunghee Yeau, Kyung-Hoon Paik, Dong-Kyu JinSamsung Medical Center. Republic of Korea American Journal of Medical GeneticsAm J Med Genet 2010; 152A: 3129-3132DOI: 10.1002/ajmg.a.33589 AbstractMucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency

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Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia)

Maria C. Escobar-Diaz, Kevin Friedman, Yishay Salem, Gerald R. Marx, Brian T. Kalish, Terra Lafranchi, Rahul H. Rathod, Sitaram Emani, Tal Geva, Wayne TworetzkyBoston Children’s Hospital and Harvard Medical School. Tel Aviv University. United States and Israel American Journal of CardiologyAm J Cardiol 2014; 114: 612-617DOI: 10.1016/j.amjcard.2014.05.042 AbstractPatients with heterotaxy syndrome (HS) have a range of

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Pulmonary vein stenosis with Down syndrome: a rare and frequently fatal cause of pulmonary hypertension in infants and children

Srinath Gowda, Deepti Bhat, Zhuang Feng, Chung-Ho Chang, Robert D. RossThe Children’s Hospital of Michigan and Detroit Medical Center.United States Congenital Heart DiseaseCongenit Heart Dis 2014; 9: E90-E97DOI: 10.1111/chd.12088 AbstractDown syndrome (DS) patients are prone to pulmonary hypertension (PHTN) due to various cardiopulmonary causes. However, the association of DS with pulmonary vein stenosis (PVS) is not

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