Genetic Factors Associated With Pulmonary Vascular Disease

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 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

Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report Read More »

Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome

Isabel De Brouchoven, Juan Lorand, Léon Bofferding, Arthur Sorlin, An Van Damme, Olivier DanhaiveSaint-Luc University Hospital,. Luxembourg Hospital Center. Laboratoire National de Santé. University of California San Francisco.Belgium, Luxembourg and United States Frontiers in PediatricsFront Pediatr 2025; 13: DOI: 10.3389/fped.2025.1475143 AbstractIntroduction: Rare pathogenic variants in the PTPN11, KRAS, SOS1 and RAF1 genes are the main molecular causes of Noonan syndrome (NS).

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Airway Anomalies Predict Risk of Pediatric Pulmonary Hypertension

Elana R. Kriegel, Aditya Srinivasen, Luke Mammen, Harini Venkataganesh, Jess T. Randall, Lara ReichertAlbany Medical College and Albany Medical Center.United States Pediatric PulmonologyPediatr Pulmonol 2025; 60: DOI: 10.1002/ppul.71028 AbstractIntroduction: Pediatric pulmonary hypertension (PH) significantly contributes to morbidity and mortality due to the progressive nature of the disease in some subtypes, which leads to severe right heart failure,

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Recanalization and interventional stenting of a closed ductus arteriosus in pulmonary hypertension associated with von Hippel-Lindau disease: a case report

Emine Gülsah Torun, Denizhan Bagrul, Ibrahim EceAnkara Bilkent City Hospital.Turkey Cardiology in the YoungCardiol Young 2025; DOI: 10.1017/S1047951125001374 AbstractPulmonary arterial hypertension remains a progressive, life-threatening condition despite advances in medical treatments. We report the first case of the interventional creation of a reverse Potts shunt by stenting a closed ductus arteriosus in a four-year-old child with

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