Class 1. Heritable Pulmonary Hypertension

Cause of death in children with heart disease: a cohort study

Neil Derridj, Daphné Madec, Olivier Raisky, Sophie Malekzadeh-Milani, Diala Khraiche, Antoine Legendre, Lucile Houyel, Zahra Belhadjer, Franck Iserin, Mathilde Méot, Marilyne Levy, Bertrand Stos, Daniela Laux, Victor Waldmann, Vanessa Lopez, Ayman Haydar, Segolene Bernheim, Régis Gaudin, Fanny Bajolle, Damien Bonnet, Members of M3C Necker Collaborative GroupHôpital Universitaire Necker-Enfants Malades. Paris Cité University. France Archives of […]

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Gene and metabolite changes triggered by downregulation of JUNB and ZNF281 in idiopathic pulmonary arterial hypertension: potential mechanisms revealed by multi-omics study

Yanfang Zong, Wei Liu, Jiahe Tian, Cuilan Hou, Tingting Xiao, Sirui Song, Xunwei JiangShanghai Children’s Hospital School of Medicine and Shanghai Jiao Tong University.China Translational PediatricsTransl Pediatr 2025; 14: 2572-2585DOI: 10.21037/tp-2025-370 AbstractBackground: Pulmonary arterial hypertension (PAH) is a severe pulmonary vascular disease causing right heart failure. Idiopathic PAH (IPAH), a type of PAH with unknown causes, has

Gene and metabolite changes triggered by downregulation of JUNB and ZNF281 in idiopathic pulmonary arterial hypertension: potential mechanisms revealed by multi-omics study Read More »

Marked improvement in severe pulmonary arterial hypertension following airway infection in a patient with a heterozygous BMP9 nonsense mutation: a case report

Makito Sakurai, Yohei Yamaguchi, Kei Takasawa, Susumu Hosokawa, Taku IshiiInstitute of Science Tokyo. Japanese Red Cross Musashino Hospital.Japan European Heart Journal Case ReportsEur Heart J Case Rep 2025; 9: DOI: 10.1093/ehjcr/ytaf386 AbstractBackground: Pulmonary arterial hypertension (PAH) is a severe and life-threatening disease. Genetic factors, inflammation and immune system play important roles in their pathogenesis. However, their precise

Marked improvement in severe pulmonary arterial hypertension following airway infection in a patient with a heterozygous BMP9 nonsense mutation: a case report Read More »

Reversed Potts Shunt and Venopulmonary Extracorporeal Membrane Oxygenation Support in Sustained Pulmonary Hypertension Crisis

Xiafeng Yu, Yanjun Sun, Lijun Fu, Zhuoming Xu, Yumin Zhong, Wenjing Hong, Yi Yan, Yinyu Yang, Hao ZhangShanghai Children’s Medical Center and Shanghai Jiao Tong University School of Medicine. China Journal of the American College of Cardiology Case ReportsJACC Case Rep 2025; 30: DOI: 10.1016/j.jaccas.2025.105153 AbstractBackground: Infantile idiopathic pulmonary arterial hypertension complicated by recurrent episodes of pulmonary

Reversed Potts Shunt and Venopulmonary Extracorporeal Membrane Oxygenation Support in Sustained Pulmonary Hypertension Crisis Read More »

Macitentan in Children with Pulmonary Arterial Hypertension: A Multicenter Experience

A. Rodriguez Ogando, A. Sabaté-Rotés, A. Moya Bonora, L. Albert de la Torre, J. M. Espín López, C. Labrandero de Lera, Maria Jesus Del Cerro MarinGregorio Marañon General University Hospital. Hospital Materno Infantil Gregorio Marañon. Vall d’Hebron University Hospital. La Fe University Hospital. 12 de Octubre University Hospital. Virgen dee la Arrixaca University Hospital. La

Macitentan in Children with Pulmonary Arterial Hypertension: A Multicenter Experience Read More »

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 »

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