Class 1. Heritable Pulmonary Hypertension

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 […]

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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

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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

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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

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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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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

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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

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