Genetic Factors Associated With Pulmonary Vascular Disease

Rare variants in STAB2 in patients with chronic thromboembolic pulmonary hypertension

Mark W. Dodson, Kristina Allen-Brady, Jeffrey Stevens, Meghan M. Cirulis, Mona Alotaibi, Timothy M. Fernandes, Nick H. Kim, Kim M. Kerr, Demosthenes G. Papamatheakis, David S. Poch, Julianna Desmarais, D. Hunter Best, Nathan D. Hatton, John J. Ryan, C. Gregory Elliott, Lisa A. Cannon-AlbrightIntermountain Medical Center. University of Utah and University of Utah School of […]

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Experience of the Pediatric Department at the Mohammed VI University Hospital Center in Oujda on Trisomy 21 and Congenital Heart Defects: What Is the Reality in the Oriental Region of Morocco?

Abdeladim Babakhouya, Chaymae Yechouti, Chaimae Salhi, Aziza Elouali, Maria RkainUniversity Hospital Center of Mohammed VI and Mohammed Premier University.Morocco CureusCureus 2-25; 17: DOI: 10.7759/cureus.86689 AbstractIntroduction. Trisomy 21 (T21), or Down syndrome, is frequently associated with congenital heart defects (CHDs). This study aims to describe the epidemiological, clinical, and para-clinical profile of CHDs in children with trisomy

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Snijders Blok-Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report

Luisa Paul, Victoria C. Ziesenitz, Matthias GorenfloUniversity Hospital.Germany ReportsReports 2025; 8: DOI: 10.3390/reports8020047 AbstractBackground and Clinical Significance: We report on an infant with Snijders Blok-Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension. Case Presentation: A DDX3X mutation encoding for RNA helicase was detected, which may suggest an association between Snijders Blok-Campeau

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Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review

Yiting Chen, Wenhe Zang, Haoyuan Zhong, Xianqin Deng, Wenting Zhong, Lianyu Wang, Xinying ChenSecond Affiliated Hospital of Guangzhou University of Chinese Medicine and Guangdong Provincial Hospital of Chinese Medicine.China Frontiers in ImmunologyFront Immunol 2025; 15: DOI: 10.3389/fimmu.2025.1615075 AbstractSTING-associated vasculopathy with onset in infancy (SAVI) represents an identified rare type I interferonopathy, triggered by gain-of-function mutations in

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Genetic features of alveolar capillary dysplasia with misalignment of pulmonary veins in Japanese infants

Masahiko Ikeda, Kazutoshi Cho, Yuta Furuse, Tetsuo Onda, Akiko Ando, Yuichi Nakamura, Yosuke Kaneshi, Atsushi ManabeHokkaido University Hospital. Japan Community Healthcare Organization Hokkaido Hospital. Hokkaido University.Japan Early Human DevelopmentEarly Hum Dev 2025; DOI: 10.1016/j.earlhumdev.2025.106287 AbstractBackground: The genetic features of alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) among infants in Japan have not been extensively evaluated.Methods: This

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Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar

Christina A. Eichstaedt, Gabriel Maldonado-Velez, Rajiv D. Machado, Stefan Gräf, Dennis Dooijes, Srimmitha Balachandar, Florence Coulet,Kristina Day, Melanie Eyries, Daniela Macaya, Memoona Shaukat, Laura Southgate, Jair Tenorio-Castano, Wendy K. Chung, Carrie L. Welch, Micheala A. AldredThoraxklinik-Heidelberg gGmbH, Heidelberg University Hospital and Translational Lung Research Center (TLRC), German Center for Lung Research (DZL).  Indiana University School

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar 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

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Transcription factor EB improves hypoxic pulmonary hypertension in fetal rats by suppressing NLRP3 inflammasome activation via induction of mitophagy

Chaohong Chen, Zaoye Xie, DangAo, Yinhui Chen, Ling Liu, Chengyan LiAffiliated Hospital of Guangdong Medical University. China Scientific ReportsSci Rep 2025; 15: DOI: 10.1038/s41598-025-07068-5 AbstractPersistent pulmonary hypertension of the newborn (PPHN) represents a life-threatening cardiopulmonary condition characterized by hypoxia-driven pulmonary vascular remodeling. While transcription factor EB (TFEB), a master regulator of cellular adaptation to hypoxia, has

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Co-development of mesoderm and endoderm enables organotypic vascularization in lung and gut organoids

Yifei Miao, Nicole M. Pek, Cheng Tan, Cheng Jiang, Zhiyun Yu, Kentaro Iwasawa, Min Shi, Daniel O. Kechele, Nambirajan Sundaram, Victor Pastrana-Gomez, Debora I. Sinner, Xingchen Liu, Ko Chih Lin, Cheng-Lun Na, Keishi Kishimoto, Min-Chi Yang, Sushila Maharjan, Jason Tchieu, Jeffrey A. Whitsett, Yu Shrike Zhang, Kyle W. McCracken, Robbert J. Rottier, Darrell N. Kotton,

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TNF drives aberrant BMP signaling to induce endothelial and mesenchymal dysregulation in pulmonary hypertension

M. L. Garcia-Hernandez, Javier Rangel-Moreno, Qingfu Xu, Ye Jin Jeong, Soumyaroop Bhattacharya, Ravi Misra, Stacey Duemmel, Ke Yuan, Benjamin D. KormanUniversity of Rochester Medical Center. Boston Children’s Hospital.United States Journal of Clinical Investigation InsightJCI Insight 2025; DOI: 10.1172/jci.insight.174456 AbstractThe pathobiology of pulmonary hypertension (PH) is complex and multiple cell types contribute to disease pathogenesis. We sought

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