Genetic Factors Associated With Pulmonary Vascular Disease

GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease

Yuriko Sugiura, Takahiro Ando, Hirokazu Urushiyama, Akihisa Mitani, Goh Tanaka, Kenichi Kashimada, Tomohiro Morio, Hidenori KageUniversity of Tokyo. Institute of Science Tokyo.Japan Respirology Case ReportsRespirol Case Rep 2025; 13: DOI: 10.1002/rcr2.70165 AbstractGATA2 deficiency is a rare disease caused by germline heterozygous variants. This mutation is known to cause a decrease in haematopoietic stem cells and a […]

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Mas1 Receptor Activation is Necessary and Sufficient to Transduce ACE2 Effect in PAH, But Ang(1-7) Alone is Insufficient

James West, Megha Talati, Erica Carrier, Anandharajan Rathinasabapathy, Ibragim Gaidarov, Benjamin Vigl, Ying Cai, Hongpeng Jia, Tom Blackwell, Santhi Gladson, Christie Moore, Sheila Shay, Ethan Sevier, Anna HemnesVanderbilt University Medical Center. Eurofins Beacon Discovery. Alterras Therapeutics. Johns Hopkins University School of Medicine.United States and Austria Pulmonary CirculationPulm Circ 2025; 15: DOI: 10.1002/pul2.70083 AbstractACE2 has shown effectiveness

Mas1 Receptor Activation is Necessary and Sufficient to Transduce ACE2 Effect in PAH, But Ang(1-7) Alone is Insufficient Read More »

Altered maturation and activation state of circulating monocytes is associated with their enhanced recruitment in pulmonary arterial hypertension

Rebecca L. Harper, Xin Zhou, David P. Marciano, Aiqin Cao, Lingli Wang, Guibin Chen, Mir S. Adil, Wenyu Zhou, Peter Maguire, Shanthi Deivanayagam, Quan Yu, Vignesh Viswanathan, Dan Yang, Marcy Martin, Sarasa Isobe, Shoichiro Otsuki, Jordan Burgess, Audrey Inglis, Devon Kelley, Patricia A. del Rosario, Andrew Hsi, Francois Haddad, Roham T. Zamanian, Manfred Boehm, Michael

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The sonic hedgehog signaling inhibitor cyclopamine improves pulmonary arterial hypertension via regulating the bone morphogenetic protein receptor 2 pathway

Youpeng Jin, Fei Mao, Xuehui Wang, Jie Zhang, Yanting Gao, Youfei FanShandong Provincial Hospital, First Affiliated Hospital and Shandong First Medical University.China Scientific ReportsSci Rep 2025; 15: DOI: 10.1038/s41598-025-97627-7 AbstractPulmonary arterial hypertension (PAH) is a severe and progressive disease with hallmarks of pulmonary vascular remodeling and bone morphogenetic protein receptor 2 (BMPR2) mutation. Recent studies indicate

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The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension

Fatma Hayvaci Canbeyli, Kazim Secgen, Faith Suheyl Ezgu, Gulten Tacoy, Serkan Unlu, Hidayet Ozan Arabaci, Ayhan Pektas, Asli Inci, Ergun Baris Kaya, Umit Yasar Sinan, Mehmet Serdar Kucukoglu, Serdar KulaGazi University Faculty of Medicine. Istanbul University Faculty of Medicine. Afyonkarahisar University of Health Sciences. Hacettepe University Faculty of Medicine. Turkey Pediatric CardiologyPediatr Cardiol 2025; DOI: 10.1007/s00246-025-03847-z

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Complete Atrioventricular Septal Defect Repair in Patients With Down Syndrome Presenting Beyond Six Months- A Single Center Experience

Kartik Patel, Chandrasekaran Ananthanarayanan, Trushar Gajjar, Amit Mishra, Bhavik Champaneri, Jigar Surti, Himani PandyaU. N. Mehta Institute of Cardiology and Research Centre. India World Journal of Pediatric and Congenital SurgeryWorld J Pediatr Congenit Surg 2025; DOI: 10.1177/21501351251322162 AbstractBackground: Complete atrioventricular septal defect (cAVSD) is the most common cardiac lesions associated with Down syndrome (DS). In DS,

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Pathogenic Concepts in Pulmonary Arterial Hypertension Revisited – A Multigenerational Perspective

Graznya Kwapiszewska, Christopher Rhodes, Marlene Rabinovitch, Catherine Simpson, Paul Hassoun, Kenzo Ichimura, Marc Humbert, Edda SpiekerkoetterMedical University Graz. Imperial College London. Stanford University. Johns Hopkins University. Hopital Bicetre. Austria, United Kingdom, United States and France American Journal of Respiratory Cell and Molecular BiologyAm J Respir Cell Mol Biol 2025; DOI: 10.1165/rcmb.2024-0519PS AbstractThe rapid advancement of next-generation

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Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension

Sofia Karl, Ekkehard Grünig, Memoona Shaukat, Matthias Held, Christian Apitz, Fabian von Scheidt, Ralf Geiger, Michael Halank, Karen M. Olsson, Marius M. Hoeper, Jan C. Kamp, Gabor Kovacs, Horst Olschewski, Hans-Jürgen Seyfarth, Katrin Milger, Ralf Ewert, Hans Klose, Benjamin Egenlauf, Panagiota Xanthouli, Katrin Hinderhofer, Christina A. EichstaedtHeidelberg University Hospital and Heidelberg University. KWM Missio Clinic.

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Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome

Michelle Yoo, Amit Shah, Haitham Shahrour, Hong Li, Ajay S. KasiEmory University and Children’s Healthcare of Atlanta.United States Journal of Clinical Sleep MedicineJ Clin Sleep Med 2025;DOI: 10.5664/jcsm.11644 AbstractPaired-like homeobox 2B (PHOX2B) gene variants cause congenital central hypoventilation syndrome (CCHS) characterized by abnormal ventilatory control necessitating lifelong assisted ventilation (AV). We report a 3-year-old girl who

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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

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