Genetic Factors Associated With Pulmonary Vascular Disease

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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The Nutmeg Lung Pattern in a Fetus with Hypoplastic Left Heart Syndrome and Turner Syndrome

Katrin Fricke, Katarina Övermo Tydén, Gunnar Bergman, Erik HedströmSkåne University Hospital and Lund University. Karolinska University Hospital and Karolinska Institutet. Sweden Pediatric CardiologyPediatr Cardiol 2025; DOI: 10.1007/s00246-025-03873-x AbstractThe “nutmeg lung pattern” on fetal magnetic resonance imaging (MRI) indicates pulmonary lymphangiectasia. This is associated with adverse outcomes, particularly in fetuses with congenital heart defects and impaired pulmonary

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Single-Cell and Spatial Transcriptomics Identified Fatty Acid-Binding Proteins Controlling Endothelial Glycolytic and Arterial Programming in Pulmonary Hypertension

Bin Liu, Dan Yi, Shuai Li, Karina Ramirez, Xiaomei Xia, Yanhong Cao, Hanqiu Zhao, Ankit Tripathi, Shenfeng Qiu, Mrinalini Kala, Ruslan Rafikov, Haiwei Gu, Vinicio de jesus Perez, Sarah-Eve Lemay, Christopher C. Glembotski, Kenneth S. Knox, Sebastien Bonnet, Vladimir V. Kalinichenko, You-Yang Zhao, Michael B. Fallon, Olivier Boucherat, Zhiyu DaiCollege of Medicine-Phoenix and University of Arizona. Washington University School of Medicine in St. Louis. Guangzhou Medical University. Indiana University College of Medicine. Arizona State University. Stanford University. Laval University. Phoenix Children’s Hospital. Ann & Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine.United

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Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients

Angela C. Onorato, Rachel Gosselin, Bimal P. Chaudhari, Chance Alvarado, Peter White, Vidu Garg, Amee M. BigelowNationwide Children’s Hospital.United States Research SquareRes Sq 2025; DOI: 10.21203/rs.3.rs-6314694/v1 AbstractGenetic testing guidelines for children in cardiac intensive care units (CICUs) are lacking despite a high prevalence of genetic diseases among this population. Advances in next-generation sequencing (NGS) technologies, especially

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