Genetic Factors Associated With Pulmonary Vascular Disease

Turner syndrome with pulmonary arteriovenous malformation: a case report

Huibin Guo, Hongqiao Chen, Sihao Chen, Shilong TangUniversity-Town Hospital of Chongqing Medical University. Children’s Hospital of Chongqing Medical University.China Frontiers in Cardiovascular MedicineFront Cardiovasc Med 2025; 12: DOI: 10.3389/fcvm.2025.1603250 AbstractTurner syndrome (TS) is the most common sex chromosome abnormality disorder, caused by complete or partial absence of the X chromosome, its clinical manifestations primarily include short […]

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The Effect of Microvascular Remodeling on Fluid Dynamics in the Pressure Overloaded Right Ventricle

Ilham Essafri, Kenzo Ichimura, Dunbar Ivy, Kurt R. Stenmark, Helena A. Turton, Laura L. Pyle, Edda Spiekerkoetter, Vitaly O. KheyfetsUniversity of Colorado Anschutz Medical Campus and Children’s Hospital Colorado. Stanford University, Stanford. United States American Journal of Physiology Heart and Circulatory PhysiologyAm J Physiol Heart Circ Physiol 2025; DOI: 10.1152/ajpheart.00147.2025 AbstractRight ventricular (RV) failure, a major

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How Is Pulmonary Hypertension Characterised and Treated in Children With Trisomy 21? Observations From the TOPP Registry (Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension)

Tilman Humpl, Rolf M. F. Berger, Damien Bonnet, Maurice Beghetti, Dunbar Ivy, for the TOPP InvestigatorsDistrict Hospital of Loerrach Germany. Beatrix Children’s Hospital. Hôpital Necker Enfants Malades. Children’s University Hospital. Childrens Hospital Colorado and University of Colorado School of Medicine.Germany, Netherlands, France, Switzterland and United States Pulmonary CirculationPulm Circ 2025; 15: DOI: 10.1002/pul2.70146 AbstractPulmonary hypertension is

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Surviving trisomy 18: A case report of a 5-year-old girl

Mohamad A. Banat, Ramzi Mujahed, Sama S. Yaseen, Nada A. Makhalfeh, Shahed O. Rajabi, Baraa Abu Aisheh, Rama N. BasheerPalestine Polytechnic University. Princess Alia Governmental Hospital.Palestine MedicineMedicine 2025; 104: DOI: 10.1097/MD.0000000000044225 AbstractRationale: Trisomy 18, often known as Edwards syndrome. It is a common chromosomal disorder characterized by the presence of an extra chromosome 18. Unfortunately, survival past

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Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder

Riya Mary Tharakan, Sanjay Rajwal, Bernd C. SchwahnSt Mary’s Hospital Manchester University NHS Foundation Trust. Leeds Children’s Hospital. Medicine and Health University of Manchester. United Kingdom Journal of Inherited Metabolic Disorders ReportsJIMD Rep 2025; DOI: 10.1002/jmd2.70026 AbstractWe report the case of an 11-year-old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum

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Supravalvular aortic stenosis – Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood

Sini Keskinen, Jussi Niemelä, Hannele Koillinen, Talvikki Boldt, Anita ArolaTurku University Hospital and University of Turku. New Children’s HospitalFinland Cardiovascular Revascularization MedicineCardiovasc Revasc Med 2025; DOI: 10.1016/j.carrev.2025.04.027 AbstractBackground: Supravalvular aortic stenosis (SVAS) is an autosomal dominantly inherited congenital cardiovascular disease caused by disruption of elastin gene (ELN), encoding elastin, an essential component of elastic arteries. It usually

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Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY)

Bita Salamat, Sara B. Stephens, Jolie J. Britt, Taylor Beecroft-Dawson, Andrea Taylor, Laura Muiño Mosquera, Bert Callewaert, Aude Beyens, Alexandra Channing, Michael P. Dilorenzo, Justin Weigand, Benjamin Jacob, Eudice Fontenot, Shaine A. MorrisTexas Children’s Hospital and Baylor College of Medicine. University of Texas Health Science Center. A Twist of Fate. Ghent University Hospital and Ghent

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Clinical Care for Cardiovascular Disease in Patients With Williams-Beuren Syndrome

R. Thomas Collins II, Verena Gravenhorst, Gilles Faury, Joanna Kwiatkowska, Christian E. H. Schmelzer, Heike Schneider, Anna Waldoch, Rainer PankauUniversity of Kentucky College of Medicine. University Medical Center and Georg-August-University Göttingen. Université Grenoble. Medical University of Gdańsk. Fraunhofer Institute for Microstructure of Materials and Systems. University Medical Center Schleswig-Holstein and Christian-Albrechts-University.United States, Germany, France and

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Decreased smooth muscle cells and fibrous thickening of the tunica media in peripheral pulmonary artery stenosis in Alagille syndrome

Yosuke Ogawa, Amane Yamamoto, Sho Yamazawa, Masako Ikemura, Yasutaka Hirata, Ryo InuzukaUniversity of Tokyo Hospital.Japan Cardiovascular PathologyCardiovasc Pathol 2025; DOI: 10.1016/j.carpath.2024.107677 AbstractAlagille syndrome is caused by mutations in genes involved in NOTCH signaling, specifically JAG1 and NOTCH2, and is associated with a high rate of peripheral pulmonary artery stenosis. In this study, we report the case

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Clinical and molecular spectrum of patients with methylmalonic acidemia and homocysteinemia complicated by cardiovascular manifestations

Wanqing Zhao, Yanan Zhang, Yalei Pi, Yuqian Li, Huifeng ZhangSecond Hospital of Hebei Medical University. China Orphanet Journal of Rare DiseaseOrphanet J Rare Dis 2025; DOI: 10.1186/s13023-025-03907-w AbstractBackground: To investigate the clinical characteristics, treatment response, and prognosis of patients with methylmalonic acidemia (MMA) and homocysteinemia complicated by cardiovascular manifestations and to raise awareness regarding MMA and homocysteinemia.Methods: A

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