Genetic Factors Associated With Pulmonary Vascular Disease

Contemporary Endothelial Genome Editing Technologies: Towards Precision Genetic Medicine for Vascular Diseases

You-Yang Zhou, Colin E. EvansAnn and Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine. United States International Journal of Molecular SciencesInt J Mol Sci 2026; 27: DOI: 10.3390/ijms27115100 AbstractEndothelial dysfunction is a key characteristic of many diseases, including atherosclerosis, hypertension, heart failure, stroke, cancer, acute respiratory distress syndrome (ARDS), peripheral

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Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1-Related Noonan Syndrome (p.Ser257Leu): A Case Report

C. Noah Nilsson, Othman A. Aljohani, Michael A. Smith, Rachelle Durand, Inger Norlyk Sheyanth, Hythem Nawaytou, Elliot Stieglitz, Russel Valle, Sanjeev A. DatarUniversity of California San Francisco. Copenhagen University Hospital. United States and Denmark Clinical Case ReportsClin Case Rep 2026; 14:DOI: 10.1002/ccr3.72831 AbstractThis case describes a female infant with RAF1-related Noonan syndrome who developed severe hypertrophic obstructive

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Interferon receptor gene dosage differentially regulates hypoxia-induced platelet activation and pulmonary hypertension in Down syndrome

Janelle N. Posey, Mariah Jordan, Amanda Olsen-Dufour, Thi-Tina N. Nguyen, Christine Farrell, Caitlin V. Lewis, Jamie L. Archambault, Christina Sul, Daniel Colon-Hidalgo, Eva S. Nozik, Joaquin M. Espinosa, Kelly D. Sullivan, Cassidy DelaneyUniversity of Colorado Anschutz. United States Frontiers in ImmunologyFront Immunol 2026; DOI: 10.3389/fimmu.2026.1832057 AbstractTrisomy 21 (T21) results in Down syndrome (DS), a condition associated

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From case reports to a cohort: illuminating the spectrum of pulmonary hypertension in Noonan syndrome

Jonah D. Garry, D. Dunbar Ivy, Eric D. AustinVanderbilt University Medical Center. University of Colorado School of Medicine. United States European Respiratory JournalEur Respir J 2026; 67: DOI: 10.1183/13993003.00064-2026 AbstractAbstract Not Available CategoryGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since

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Registry-based estimation of cardiac event-free survival in congenital heart disease complicated by pulmonary hypertension: A nationwide registry study from Japan

Taku Ishii, Tatsuhiko Anzai, Keiko Uchida, Susumu Hosokawa, Naofumi F. Sumitomo, Hidekazu Ishida, Keiichi Hirono, Jun Muneuchi, Ayako Chida-Nagai, Ryo Inuzuka, Hirofumi Sawada, Sayo Suzuki, Jun Maeda, Hisaaki Aoki, Lisheng Lin, Takashi Murakami, Yusuke Nakano, Tatsuya Onishi, Takuya Wakamiya, Kei Inai, Shinichi Takatsuki, Atsushi Yao, Shigetoyo Kogaki, Hiroyuki Fukushima, Yuichi Tamura, Kunihiko Takahashi, Hiroyuki Yamagishi,

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ABO Incongruency Increases Risk for Necrotizing Enterocolitis in Preterm Neonates

Jeremy A. Sandgren, Numra A. Aleem, J. Brooks Jackson, Jennifer R. Bermick, Timothy J. BolyUniversity of Iowa.United States Transfusion Medicine and HemotherapyTranfus Med Hemother 2026; DOI: 10.1159/000551548 AbstractIntroduction: Preterm neonates are at high risk for complications, and inflammation has been implicated in many of these pathologies. ABO incongruency occurs when the maternal and neonatal blood types are

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Association between upper airway obstruction and pulmonary hypertension in children with Down syndrome

Kevin Guy, Amal IsaiahUniversity of Maryland School of Medicine.United States Current Opinion in Pulmonary MedicineCurr Opin Pulm Med 2026; DOI: 10.1097/MCP.0000000000001287 AbstractPurpose of review: Down syndrome (DS) is the most common nonlethal chromosomal aneuploidy, affecting 1 in 700 live births. Pulmonary hypertension (PH) occurs in approximately 25% of children with DS and contributes to a 10% mortality

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A Rare Case of Multi-System Involvement and Hereditary Pulmonary Hypertension Caused by De Novo Heterozygous CAV1 Mutation in a Pediatric Patient

Yan Sun, Qingyou Zhang, Yaqian Huang, Xueqin LiuPeking University First Hospital.China ChildrenChildren 2026; 13: DOI: 10.3390/children13050694 AbstractBackground: Pulmonary arterial hypertension is a rare but life-threatening condition in children, with hereditary forms often being linked to mutations in genes such as bone morphogenetic protein receptor type 2 (BMPR2), caveolin 1 (CAV1), and potassium channel subfamily K member

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Variation in SNX29 and Acute Vasodilator Response in Pulmonary Arterial Hypertension

Jason H. Karnes, Changlei Bao, Shuxin Liang, Timothy Thayer, John Zagorski, Samisubbu R. Naidu, James D. West, Rae-Hwi Schwantes-An, Ehsan Khajouei, Kasturi Banerjee, Hemant K. Tiwari, Juvie Farol, Kiana L. Martinez, Dingyuan Liu, Yao Ning, Yanan Sun, Yangfan Jia, Jian Wang, Amit Arora, Ken Batai, Stephen J. Halliday, Katie Lutz, Anna Walsworth, Andrea L. Frump,

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The preponderance of genetic variations in paediatric pulmonary hypertension

Julien Grynblat, Melanie Eyries, Marine Ambar-Akkaoui, Marilyne Levy, Mathilde Meot, Isabelle Szezepanski, Julien Ranchoup, Alessia Callegari, Julie Karila-Cohen, Caroline Bonnet, Pierre Marijon, Jerome Champ, Florence Coulet, Caroline Ovaert, Frederic Perros, Fabrice Antigny, Pascale Maragnes, Guy Vaksmann, Marc Humbert, Sophie Guiti Malekzadeh Milani, David Montani Damien BonnetHôpital Necker-Enfants malades, AP-HP, Université de Paris Cité, Université Paris-Saclay,

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