Class 1. Heritable Pulmonary Hypertension

The genetic epidemiology and genotype-phenotype correlations among Chinese children with idiopathic and heritable pulmonary arterial hypertension

Yuan He, Qiangqiang Li, Chen Zhang, Bradley B. Keller, Yiping Shen, Hong GuBeijing Anzhen Hospital and Capital Medical University. Cincinnati Children’s Hospital Medical Center. Boston Children’s Hospital and Harvard Medical School.China and United States Respiratory ResearchRespir Res 2025; 26: DOI: 10.1186/s12931-025-03249-y AbstractObjective: This study aims to analyze the genetic characteristics, genotype-phenotype correlation and long-term prognosis of children […]

The genetic epidemiology and genotype-phenotype correlations among Chinese children with idiopathic and heritable pulmonary arterial hypertension Read More »

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.

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

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

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

Reduced pulmonary arterial compliance predicts poor short-term outcome in children with pulmonary arterial hypertension independent of pulmonary vascular resistance

Eva Gouwy, Mark-Jan Ploegstra, Meindina G. Haarman, Marcus T. R. Roofthooft, Rolf M. F. Berger, Johannes M. DouwesBeatrix Children’s Hospital, University Medical Center Groningen and University of Groningen.Netherlands Frontiers in Cardiovascular MedicineFront Cardiovasc Med 2025; 12: DOI: 10.3389/fcvm.2025.1526435 AbstractBackground and study aim: Pulmonary arterial hypertension (PAH) is a progressive pulmonary vascular disease with pulmonary vascular remodelling leading

Reduced pulmonary arterial compliance predicts poor short-term outcome in children with pulmonary arterial hypertension independent of pulmonary vascular resistance Read More »

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

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

ThoroughFare atrial pressure controller device to create a controlled interatrial right-to-left shunt in advanced pulmonary arterial hypertension – A pilot study

Bojja Venkata Satya Roopesh, Girija Haritha, S. V. Kishore, Muthukumaran Chinnasamy Sivaprakasam, Shreesha Maiya, Saileela Rajan, Pramod Sagar, Kothandam SivakumarMadras Medical Mission. Apollo Children’s Hospital. Narayana Health. MIOT HospitalIndia Annals of Pediatric CardiologyAnn Pediatr Cardiol 2024; 17: 408-414DOI: 10.4103/apc.apc_209_24 AbstractBackground: Atrial flow regulators are used in patients with pulmonary arterial hypertension (PAH) who present with syncope or

ThoroughFare atrial pressure controller device to create a controlled interatrial right-to-left shunt in advanced pulmonary arterial hypertension – A pilot study Read More »

[Hereditary hemorrhagic telangiectasia: a report of two cases]

Yan Huang, Chen-Tao Liu, Xiang-Rong Zheng, Bo Dou, Rong HuangXiangya Hospital of Central South University.China Chinese Journal of Contemorary PediatricsZhongguo Dang Dai Er Ke Za Zhi 2020; 22: 1041-1042DOI: 10.7499/j.issn.1008-8830.2004196 AbstractThis article reports two children with hereditary hemorrhagic telangiectasia (HHT). Patient 1 was a boy aged 12 years and was admitted due to intermittent cough and

[Hereditary hemorrhagic telangiectasia: a report of two cases] Read More »

Altered maturation and activation state of circulating monocytes is associated with their enhanced recruitment in pulmonary arterial hypertension

Rebecca L. Harper, Xin Zhou, David P. Marciano, Aiqin Cao, Lingli Wang, Guibin Chen, Mir S. Adil, Wenyu Zhou, Peter Maguire, Shanthi Deivanayagam, Quan Yu, Vignesh Viswanathan, Dan Yang, Marcy Martin, Sarasa Isobe, Shoichiro Otsuki, Jordan Burgess, Audrey Inglis, Devon Kelley, Patricia A. del Rosario, Andrew Hsi, Francois Haddad, Roham T. Zamanian, Manfred Boehm, Michael

Altered maturation and activation state of circulating monocytes is associated with their enhanced recruitment in pulmonary arterial hypertension Read More »

X-linked filaminopathy: another pulmonary hypertension syndrome

Eric D. AustinVanderbilt University Medical Center.United States European Respiratory JournalEur Respir J 2025; 65: DOI: 10.1183/13993003.00073-2025 AbstractAbstract Not Available CategoryClass I. Heritable Pulmonary HypertensionGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication Article Access Free PDF File or Full Text

X-linked filaminopathy: another pulmonary hypertension syndrome Read More »

RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and Pericytes

Ying Cai, Ling Yan, James West, Joy D. Cogan, Lora K. Hedges, Bethany Nunley, Nick Negretti, Jennifer M. S. Sucre, Eric D. Austin, Rizwan HamidVanderbilt University Medical Center Nashville. Biodevelopment Origins of Lung Disease (BOLD) Center. United States Pulmonary CirculationPulm Circ 2025; 15: DOI: 10.1002/pul2.70058 AbstractTranscription factor TBX4 rare variants associate with pulmonary arterial hypertension (PAH), particularly in

RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and Pericytes Read More »

Scroll to Top