Genetic Factors Associated With Pulmonary Vascular Disease

Deciphering epigenetic control of Notch signaling in persistent pulmonary hypertension of the newborn

Matthew D. Durbin, David G. Tingay, Kok Lim KuaIndiana University School of Medicine. Murdoch Children’s Research Institute and University of Melbourne.United States and Australia Pediatric ResearchPediatr Res 2025; DOI: 10.1038/s41390-025-04234-3 AbstractAbstract Not Available CategoryClass I. Persistent Pulmonary Hypertension of the NewbornAnimal Models of Pulmonary Vascular Disease and TherapyVascular Cell Biology and Mechanisms of Pulmonary Vascular DiseaseGenetic

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Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension

Dai-Ji Jiang, Yi-Jia Yang, Yu-Zhen Wang, Xu Zhang, Wen-Xiu, Chan, Ting-Ting Yu, Hao Chen, Hao Zhang, Yi Yan, Li-Jun FuShanghai Children’s Medical Center, National Children’s Medical Center and Shanghai Jiao Tong University School of Medicine.China International Journal of CardiologyInt J Cardiol 2025; DOI: 10.1016/j.ijcard.2025.133515 AbstractBackground: Pulmonary arterial hypertension (PAH) is a severe disease with significant genetic predisposition.

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Severe Early-Onset Pulmonary Hypertension in a Six-Month-Old With Down Syndrome and Isolated Secundum Atrial Septal Defect

Fatima Abeer, Aasim Ayaz Wani, Bisma Javid, Aisha Mahmood, Gazala AndleebGovernment Medical College, Srinagar. National Institute of Technology Srinagar. India CureusCureus 2025; 17: DOI: 10.7759/cureus.84019 AbstractInfants with Down syndrome (trisomy 21) commonly present with congenital heart defects and immune dysregulation, significantly increasing the risk of early-onset pulmonary arterial hypertension (PAH). Although secundum atrial septal defects (ASDs)

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Case Report: Pulmonary arterial hypertension in children caused by a new mutation in the BMPR2 gene

Ting Tang, Shuqi Wu, Chang Peng, Li WangGuizhou Children’s Hospital and Affiliated Hospital of Zunyi Medical University.China Frontiers in PediatricsFront Pediatr 2025; 13: DOI: 10.3389/fped.2025.1572733 AbstractPulmonary arterial hypertension (PAH) is a rare and severe condition that has been linked to hereditary factors. Mutations in the gene encoding bone morphogenetic protein receptor 2 (BMPR2) have been identified

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Down syndrome and congenital heart disease: perioperative planning and management

Dennis R. Delany, Stephanie S. Gaydos, Deborah A. Romeo, Heather T. Henderson, Kristi L. Fogg, Angela S. McKeta, Minoo N. Kavarana, John M. CostelloMedical University of South Carolina. United States Journal of Congenital CardiologyJ Congenit Cardiol 2021; 5: DOI: 10.1186/s40949-021-00061-3 AbstractApproximately 50% of newborns with Down syndrome have congenital heart disease. Non-cardiac comorbidities may also be

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Long-term outcome of CblC deficiency complicated with pulmonary hypertension

Si Ding, Yuxin Deng, Lili Hao, Wenjuan Qiu, Shengnan Wu, Yongxing Chen, Ting Chen, Xia Zhan, Lianshu Han, Xianting JiaoXinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine. Children’s Hospital Affiliated to Zhengzhou University and Henan Children’s Hospital. China Orphanet Journal od Rare DiseasesOrphanet J Rare Dis 2025; 20: DOI: 10.1186/s13023-025-03839-5

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Co-Occurring Medical Conditions in Over 2300 Children With Down Syndrome at a Down Syndrome Multispecialty Clinic

Francis Hickey, Liz Maastricht, Kristine Wolter-Warmerdam, Dee Daniels, Bailey Herfindahl, Karen KelminsonUniversity of Colorado School of Medicine, Aurora and Children’s Hospital Colorado.United States Journal of Intellectual Disability ResearchJ Intelect Dis Res 2025;DOI: 10.1111/jir.13257 AbstractBackground: Children with Down syndrome (DS) have an increased frequency of co-occurring medical complications compared to the typically developing population; however, incidence rates of

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Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia

Owen Oliver, Allison D. Britt, Alexandra J. Borst, Elizabeth Goldmuntz, Nihal Bakeer, Shih-shan Lang, Stephanie Fuller, Arastoo Vossough, Lauren A. BeslowChildren’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania. United States Journal of Clinical MedicineJ Clin Med 2025; 14: DOI: 10.3390/jcm14103359 AbstractBackground/Objectives: Pathogenic variants in the growth differentiation factor 2 (GDF2) gene

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Sex differences in the risk of bronchopulmonary dysplasia and pulmonary hypertension: a Bayesian meta-analysis

Elke Van Westering-Kroon, Tamara M. Hundscheid, Karen Van Mechelen, Frantisek Bartos, Steven H. Abman, Eduardo VillamorMosaKids Children’s Hospital, Maastricht University Medical Centre and Maastricht University. University of Amsterdam. University of Colorado Anschutz School of Medicine and Children’s Hospital Colorado. Netherlands and United States Pediatric ResearchPediatr Res 2025; DOI: 10.1038/s41390-025-04145-3 AbstractBackground: Bronchopulmonary dysplasia (BPD) is generally considered to

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Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review

Nagehan Bilgeça, Mahmut Gökdemirb, Özgür Balasar, Fayize Maden Bedela, Hüseyin ÇaksenNecmettin Erbakan University. Başkent University. Konya City Hospital.Turkey Molecular SyndromologyMol Syndromol 2025; DOI: 10.1159/000545533 AbstractIntroduction: Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is an exceedingly rare multisystemic disease with X-linked dominant inheritance involving meso-ectodermal tissues. FDH is characterized by specific cutaneous lesions, ectodermal findings, craniofacial

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