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Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature

Virginia Mirra, Margherita Rosa, Cristina Fontanella, Martina Mancuso, Fabio Antonelli, Alice Castaldo, Annalisa Allegorico, Maria Giovanna Russo, Mario Giordano, Alfonsina Tirozzi, Paolo Siani, Daniele De Bras“Santobono-Pausilipon” Children’s Hospital. University of Naples Federico II. AORN Santobono-Pausilipon. University of Campania “Luigi Vanvitelli” and “Ospedali dei Colli”. Italy ChildrenChildren 2025; 12: DOI: 10.3390/children12121701 AbstractHereditary Hemorrhagic Telangiectasia (HHT), also known […]

Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature Read More »

Long-Term Outcomes of Transarterial Embolization for Pulmonary Arteriovenous Malformations in Pediatric Hereditary Hemorrhagic Telangiectasia

Alfredo Páez-Carpio, Adeline Y. L. Lim, Alessandro Gasparetto, Michelle Shaw, Felix Ratjen, João G. AmaralHospital for Sick Children and University of Toronto. Canada Cardiovascular and Interventional RadiologyCardiovasc Intervent Radiol 2025; DOI: 10.1007/s00270-025-04322-1 AbstractPurpose: To assess long-term clinical and radiological outcomes of transarterial embolization (TAE) for pulmonary arteriovenous malformations (PAVMs) in children with hereditary hemorrhagic telangiectasia (HHT).Materials and

Long-Term Outcomes of Transarterial Embolization for Pulmonary Arteriovenous Malformations in Pediatric Hereditary Hemorrhagic Telangiectasia Read More »

Decreased endothelial cell retinoic acid signaling accelerates progression of single ventricle pulmonary arteriovenous malformations

Henry Rousseau, Tina Wan, Nhi Nguyen, Jaime Wendt Andrae, Michael Tschannen, Angela J. Mathison, Victor Jin, Olivia Groh, Xingyan Zhou, Stryder M. Meadows, Ramani Ramchandran,Igor Shmarakov, Amy Y. Pan, Andrew D. SpearmanMedical College of Wisconsin and Children’s Wisconsin. Rutgers University. Tulane University. United States bioRxivbioRxiv 2025; DOI: 10.64898/2025.12.08.693095 AbstractBackground: Pulmonary arteriovenous malformations (PAVMs) are vascular complications that

Decreased endothelial cell retinoic acid signaling accelerates progression of single ventricle pulmonary arteriovenous malformations Read More »

Right ventricular adaptation in congenital heart disease: Does the type of right ventricular overload matter?

Renee S. Joosen, Gregor J. Krings, Heleen B. van der Zwaan, Nefise Karaman, Marco Guglielmo, Lucas R. Celant, Marco J. W. G€otte, Michael G. Dickinson, Michiel Voskuil, Marielle C. van de Veerdonk, Johannes M. P. J. BreurUniversity Medical Center Utrecht. Amsterdam University Medical Center and University of Amsterdam. Netherlands Journal of Thoracic and Cardiovascular Surgery

Right ventricular adaptation in congenital heart disease: Does the type of right ventricular overload matter? Read More »

Neonatologist-Performed Echocardiography in Neonatal Pulmonary Hypertension: A Narrative Review of the Literature

Anna Chiara Titolo, Mandy Ferrocino, Eleonora Biagi, Luisa Rizzo, Hajrie Seferi, Valentina Dell’Orto, Serafina Perrone, Susanna EspositoParma University Hospital and University of Parma.Italy DiagnosticsDiagnostics 2025; 15: DOI: 10.3390/diagnostics15243154 AbstractNeonatal pulmonary hypertension (PH) is a major cause of illness and death in newborns. Neonatologist-performed echocardiography (NPE) is increasingly used as a bedside tool to assess heart function,

Neonatologist-Performed Echocardiography in Neonatal Pulmonary Hypertension: A Narrative Review of the Literature Read More »

Construction of an early diagnostic model for pulmonary hypertension based on aging-related signature genes and identification of potential therapeutic targets

MengzeWang, Jiafei Lu, Xinyu Li, Huating Xie, Junjie Liang, Jun Luo, Xishu Deng, Guoquan Pan, Bowen Ji, Xiaojie DingKunming Children’s Hospital. Southern Medical University. Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical University. Taizhou Central Hospital (Taizhou University Hospital). Second Hospital of Jiaxing and Second Affiliated Hospital of Jiaxing University. Zhejiang Rongjun Hospital.

Construction of an early diagnostic model for pulmonary hypertension based on aging-related signature genes and identification of potential therapeutic targets Read More »

Pediatric Lung Transplantation in Israel: 29 Cases from a Single Center’s Experience

Eyal Jacobi, Moshe Heching, Osnat Shtraichman, Dror Rosengarten, Barak Pertzov, Ophir Bar-On, Hagit Levine, Ofer Schiller, Yury Peysakhovich, Dario Prais, Yaron Barac, Mordechai Reuven KramerSchneider Children’s Medical Center, Rabin Medical Center, Gray Faculty of Medical and Health Sciences and Tel Aviv University. Israel Israel Medical Association JournalIsrael Med Assoc J 2025; 27: 778-782DOI: Not Available

Pediatric Lung Transplantation in Israel: 29 Cases from a Single Center’s Experience Read More »

Reversible Pulmonary Hypertension in CblC Deficiency (MMACHC c.80 A>G): long-term outcomes of metabolic and PH-targeted therapy

Ruxuan He, Jinrong Liu, Xiaolei Tang, Hui Liu, Yuelin Shen, Xioayan Zhang, Huimin Li, Shunying Zhao, Haiming YangBeijing Children’s Hospital and Capital Medical University. Children’s Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Hospital of Beijing Children’s Hospital and Seventh People’s Hospital of Xinjiang Uygur Autonomous Region.China Pediatric ResearchPediatr Res 2025; DOI: 10.1038/s41390-025-04720-8 AbstractBackground: Cobalamin C (cblC) deficiency,

Reversible Pulmonary Hypertension in CblC Deficiency (MMACHC c.80 A>G): long-term outcomes of metabolic and PH-targeted therapy Read More »

SOX17 variants are associated with severe pulmonary arterial hypertension with and without congenital heart disease

Cara Morgan, Laura Southgate, Alistair Calder, Thivya Sekar, Andrew Constantine, Sadia Quyam, Richard Trembath, Shahin MoledinaGreat Ormond Street Hospital for Children. University of London, School of Health & Medical Sciences. Queen Elizabeth Hospital Birmingham. University College London. King’s College London. United Kingdom International Journal of CardiologyInt J Cardiol 2025; DOI: 10.1016/j.ijcard.2025.134114 AbstractBackground: SOX17 has recently been identified

SOX17 variants are associated with severe pulmonary arterial hypertension with and without congenital heart disease Read More »

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy

Lucy Collins, Jessica Sandy, Stephanie Ly, Kate E. Lomax, Sarah Black, Fiona McKenzie, Eadaoin Hayes, Cathryn Poulton, Craig Jefferies, Wendy Hunter, Peter Simm, Christine Rodda, Andrew Biggin, Craig Munns, Aris SiafarikasRoyal Children’s Hospital. Monash University. Children’s Hospital at Westmead. University of Sydney. Perth Children’s Hospital. University of Western Australia. King Edward Memorial Hospital. Starship Children’s

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy Read More »

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