Genetic Factors Associated With Pulmonary Vascular Disease

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 »

Noncirrhotic Portopulmonary Hypertension Due to Hepatoportal Sclerosis in Adams-Oliver Syndrome

Jennifer Merk, Delphine Yung, Jason N. Wright, Raj P. KapurUniversity of Washington and Seattle Children’s Hospital.United States PediatricsPediatrics 2025;DOI: 10.1542/peds.2025-073243 AbstractA 13-year-old girl presented for evaluation of pulmonary hypertension after symptoms of dyspnea and exercise intolerance. Full evaluation was negative except for abdominal ultrasonography with splenomegaly and esophageal varices suggestive of portal hypertension. Cardiac and hepatic

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[Pediatric pneumological aspects in the care of children with Down Syndrome]

Hans Fuchs, Lennart Gunst, Anke Wendt, Sebastian Becker, Ruth Margarethe Grychtol, Dejan Vlajnic, Dorit Aschmann-Muehlhans, Christiane Wuerfel, Mathis Steindor, Svea Muehlberg, Florian StehlingAlbert-Ludwigs-Universität Freiburg. Charité Universitätsmedizin Berlin. Darmstädter Kinderkliniken Prinzessin Margaret. Medizinische Hochschule Hannover. Klinikum Leverkusen. Kinderkrankenhaus St. Marien. Technische Universität Dresden. Heinrich-Heine-Universität Düsseldorf. Universitäts-Kinderspital Zürich. Universität Duisburg-Essen.Germany and Switzerland Klinische PädiatrieKlin Padiatr 2025; DOI: 10.1055/a-2748-4649

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Paediatric pulmonary arterial hypertension following congenital heart defect repair: Enhanced risk stratification and outcomes in a national cohort

Andrew Constantine, Konstantinos Dimopoulos, Robin Condliffe, Paul Clift, Katrijn Jansen, S. John Wort, Grace Chaplin, Kaushiga Krishnathasan, Rami Dhillon, Joydeep Mookerjee, W. Brodie Knight, Caroline B. Jones, Maria N. Velasco Forte, Dirk Wilson, Helen Michael, Alberto Mendoza Soto, Carlos Labrandero, Alejandro Rodríguez Ogando, Antonio Moreno Galdó, Inmaculada Guillén Rodríguez, Lina M. Caicedo Cuenca, Francesca Perin,

Paediatric pulmonary arterial hypertension following congenital heart defect repair: Enhanced risk stratification and outcomes in a national cohort Read More »

Meta-Analysis of Differential Gene Expression in Idiopathic Pulmonary Arterial Hypertension

Andy P. Huang, Sarah Voskamp, Ameneh A. Ebadi, Jennifer L. Liedel, Jennifer S. Nelson, Joseph KuruvillaUniversity of Central Florida. Nemours Children’s Hospital. United States Cardiovascular PathologyCardiovasc Pathol 2025;  DOI: 10.1016/j.carpath.2025.107805 AbstractBackground: Idiopathic pulmonary arterial hypertension (IPAH) is a subtype of pulmonary arterial hypertension and impacts both children and adults. IPAH has overall poor survival, highlighting the importance

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Causes and risk factors for death in infants with congenital chylothorax

Yuichi Kubo, Satoshi Ibara, Takuya Tokuhisa, Masaya Kibe, Kazuyoshi Sueyoshi, Masato Kamitomo, Motoi KatoShonan Fujisawa Tokushukai Hospital. Kagoshima City Hospital. Imakiire General Hospital. Kagoshima University Hospital.Japan Frontiers in PediatricsFront Pediatr 2025; 13: DOI: 10.3389/fped.2025.1699515 AbstractAim: To identify mortality risk factors in infants with congenital chylothorax (CC) and analyze the causes of death, including pathological examination.Methods: For this single-center

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Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case

Haiyan Shu, Xiaohong Shang, Yan Sun, Guimei Li, Chen Chen, Jianmei YangLicheng District Traditional Chinese Medicine Hospital. Shandong Provincial Hospital Affiliated to Shandong First Medical University. University of Queensland. China and Australia Intractable and Rare Diseases ResearchIntractable Rare Dis Res 2025; 14: 303-305DOI: 10.5582/irdr.2025.01053 AbstractMucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disorder characterized by

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case Read More »

Exploring the Impact of Platelet-Derived Growth Factor D in Pulmonary Hypertension Development

Philip Tannenberg, Karin Tran‐Lundmark, Ya‐Ting Chang, Hanna Gladh, Frank Chenfei Ning, Christian Westöö, Christian Norvik, Azra Alajbegovic, Sebastian Albinsson, Hans Brunnström, Ulf Hedin, Erika FolestadKarolinska Institutet Stockholm. Skane University Hospital and Lund University. Chang Gung Memorial Hospital.Sweden and Taiwan Pulmonary CirculationPulm Circ 2025; 22: DOI: 10.1002/pul2.70216 AbstractPulmonary arterial hypertension (PAH) is a life-threatening condition with no

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Clinical characteristics and outcomes of cardiovascular surgery and transcatheter procedures in adults with Down syndrome and congenital heart disease

Takumi Osawa, Tomoko Machino-Ohtsuka, Keitaro Kume, Takahiro Yano, Koshiro Kanaoka, Yoko Sumita, Yusuke Yano, Ruriko Numata, Naoto Kawamatsu, Hideyuki Kato, Yuji Hiramatsu, Tomoko IshizuUniversity of Tsukuba. National Cerebral and Cardiovascular Center. Japan International Journal of Cardiology Congenital Heart DiseaseInt J Cardiol Congenit Heart Dis 2025; 22: DOI: 10.1016/j.ijcchd.2025.100638 AbstractBackground: Advances in medical care have increased the number

Clinical characteristics and outcomes of cardiovascular surgery and transcatheter procedures in adults with Down syndrome and congenital heart disease Read More »

Downregulation of KLF2 impairs pulmonary endothelial function and promotes persistent pulmonary hypertension of the newborn

Ningning Chen, Xiaohang Yin, Dong Wang, Dongmei Zhou, Lili Kang, Xiaoying LiChildren’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Cheeloo College of Medicine and Shandong University. China Biochemical PharmacologyBiochem Pharmacol 2025; DOI: 10.1016/j.bcp.2025.117572 AbstractPersistent pulmonary hypertension of the newborn (PPHN) is a severe and progressive disorder with limited therapeutic options. Dysfunction of pulmonary artery endothelial

Downregulation of KLF2 impairs pulmonary endothelial function and promotes persistent pulmonary hypertension of the newborn Read More »

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