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Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia

Ze-yang Chen, Yuan Cao, Jie Yang, Xue-hua He, Li-ping Liu, Yong-hua YuanQingdao University School of Medicine. Hunan Provincial People’s Hospital and First Affiliated Hospital of Hunan Normal University.China Frontiers in PediatricFront Pediatr 2025; DOI: 10.3389/fped.2025.1642390 AbstractBackground: FBN1 gene mutation-associated geleophysic dysplasia (GD) leads to the formation of complex and refractory pulmonary hypertension (PH) through a multifactorial combination […]

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Reassessment of the Current Iron Deficiency Definition in Pulmonary Hypertension

Aurelia E. Reiser, Markus Thiersch, Max Gassmann, Martina U. Muckenthaler, Thomas Geiser, Mona Lichtblau, Silvia UlrichUniversity of Zürich. University of Heidelberg. University of Berne.Switzerland and Germany Pulmonary CirculationPulm Circ 2025; 15: DOI: 10.1002/pul2.70142 AbstractIron deficiency (ID) is prevalent in pulmonary hypertension(PH), but there is no consensus on ID definition and its possible correlation to prognostic markers.

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Rare variants in STAB2 in patients with chronic thromboembolic pulmonary hypertension

Mark W. Dodson, Kristina Allen-Brady, Jeffrey Stevens, Meghan M. Cirulis, Mona Alotaibi, Timothy M. Fernandes, Nick H. Kim, Kim M. Kerr, Demosthenes G. Papamatheakis, David S. Poch, Julianna Desmarais, D. Hunter Best, Nathan D. Hatton, John J. Ryan, C. Gregory Elliott, Lisa A. Cannon-AlbrightIntermountain Medical Center. University of Utah and University of Utah School of

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Sound Waves Versus Pressure Waves: The Increasing Role of Echocardiography and Noninvasive Vasoreactivity Testing in Pediatric Pulmonary Hypertension Management

John T. Wren Jr., Kamel ShibbaniUniversity of Iowa.United States EchocardiographyEchocardiography 2025; 42: DOI: 10.1111/echo.70254 AbstractAbstract Not Available CategoryDiagnostic Testing for Pulmonary Vascular Disease. Non-invasive TestingDiagnostic Testing for Pulmonary Vascular Disease. Invasive Testing Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication Article Access Free PDF File or

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Clinical Characteristics and Outcomes for Neonates with Respiratory Failure Referred for Extracorporeal Membrane Oxygenator (ECMO) Support

Pooja Musuku, Keith Meyer, Felipe E. Pedroso, Fuad Alkhoury, Balagangadhar R. TotapallyNicklaus Children’s Hospital. Herbert Wertheim College of Medicine and Florida International University.United States ChildrenChildren 2025; 12: DOI: 10.3390/children12070925 AbstractObjective: The aim of this study was to describe the presenting characteristics and outcomes of neonates with respiratory failure referred for extracorporeal membrane oxygenation (ECMO) support, compare

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Systemic Sclerosis: A Key Model of Endothelial Dysfunction

Vincenzo Zaccone, Lorenzo Falsetti, Silvia Contegiacomo, Serena Cataldi, Devis Benfaremo, Gianluca MoronciniMarche Polytechnic University.Italy BiomedicinesBiomedicines 2025; 13: DOI: 10.3390/biomedicines13071771 AbstractSystemic sclerosis (SSc) is a heterogeneous disease characterized by vascular alterations, immune dysregulation, and fibrosis. Solid evidence supports the hypothesis that endothelial dysfunction is the key player in SSc vascular injury and a critical factor concurring to

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Impact of Pulmonary Hypertension and Patent Ductus Arteriosus in Preterm Infants with Presumed Pulmonary Hypoplasia

Sol Kim, Yumi Seo, Moon-Yeon Oh, Min Soo Kim, Sook Kyung YumSeoul St. Mary’s Hospital and Catholic University of Korea.Republic of Korea BiomedicinesBiomedicines 2025; 13: DOI: 10.3390/biomedicines13071725 AbstractObjectives: Pulmonary hypertension and hemodynamically significant PDA (hsPDA) involve seemingly opposite physiological features-decreased pulmonary blood flow and pulmonary overcirculation, respectively-but the literature demonstrates variable respiratory consequences in association with

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Experience of the Pediatric Department at the Mohammed VI University Hospital Center in Oujda on Trisomy 21 and Congenital Heart Defects: What Is the Reality in the Oriental Region of Morocco?

Abdeladim Babakhouya, Chaymae Yechouti, Chaimae Salhi, Aziza Elouali, Maria RkainUniversity Hospital Center of Mohammed VI and Mohammed Premier University.Morocco CureusCureus 2-25; 17: DOI: 10.7759/cureus.86689 AbstractIntroduction. Trisomy 21 (T21), or Down syndrome, is frequently associated with congenital heart defects (CHDs). This study aims to describe the epidemiological, clinical, and para-clinical profile of CHDs in children with trisomy

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Pulmonary Artery Pulsatility Index: A Novel Marker for Risk Assessment and Prognosis in Pediatric Idiopathic Pulmonary Arterial Hypertension

Emine Gülsah Torun, Nevin Özdemiroglu, Denizhan Bagrul, Ibrahim EceTurkish Ministry of Health, Ankara Bilkent City Hospital and Gaziantep City Hospital.Turkey Pediatric CardiologyPediatr Cardiol 2025; DOI: 10.1007/s00246-025-03970-x AbstractThe pulmonary artery pulsatility index (PAPi), calculated as (systolic pulmonary artery pressure – diastolic pulmonary artery pressure)/mean right atrial pressure). This study aimed to assess the clinical utility of PAPi

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Snijders Blok-Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report

Luisa Paul, Victoria C. Ziesenitz, Matthias GorenfloUniversity Hospital.Germany ReportsReports 2025; 8: DOI: 10.3390/reports8020047 AbstractBackground and Clinical Significance: We report on an infant with Snijders Blok-Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension. Case Presentation: A DDX3X mutation encoding for RNA helicase was detected, which may suggest an association between Snijders Blok-Campeau

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