Class 1. Heritable Pulmonary Hypertension

Hereditary Hemorrhagic Telangiectasia

Jamie McDonald, James R. Gossage, David A StevensonUniversity of Utah Medical Center. Augusta University. Stanford University.United States GeneReviewsGeneReviews 2026; DOI: Not Available. Bookshelf ID: NBK1351 AbstractAbstract Not Available CategoryPulmonary Arteriovenous MalformationsClass I. Heritable Pulmonary HypertensionReview Articles Concerning Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease Fresh or Filed Publication: Fresh […]

Hereditary Hemorrhagic Telangiectasia Read More »

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension

Carrie L. Welch , Meriel McEntagart, Shahin Moledina, Cara Morgan, Emilia Swietlik, Chao Hou, Lu Qiao, Emily Callejo, Savanna Craib, Damian Smedley, Emilia K. Bijlsma, Patrice Bouvagnet, Nahir Cortes-­Santiago, Tamir Dagan, Jacqueline Eason, Frances Flinter, Aakash Joshi, Jeremie Mortreux, Fadel E. Ruiz, Deborah Shears, Celia Azevedo Soares, Nidhy P. Varghese, Wendy K ChungBoston Children’s Hospital,

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension Read More »

SOX17 variants are associated with severe pulmonary arterial hypertension with and without congenital heart disease

Cara Morgan, Laura Southgate, Alistair Calder, Thivya Sekar, Andrew Constantine, Sadia Quyam, Richard Trembath, Shahin MoledinaGreat Ormond Street Hospital for Children. University of London, School of Health & Medical Sciences. Queen Elizabeth Hospital Birmingham. University College London. King’s College London. United Kingdom International Journal of CardiologyInt J Cardiol 2025; DOI: 10.1016/j.ijcard.2025.134114 AbstractBackground: SOX17 has recently been identified

SOX17 variants are associated with severe pulmonary arterial hypertension with and without congenital heart disease Read More »

Generation of 5 hiPSC lines from pediatric patients with Heritable pulmonary arterial hypertension (HPAH) caused by heterozygous mutations in the TBX4 gene

Valeria Fernandez Vallone, Kristin Fischer, Judit Küchler, Franziska Diekmann, Georg Hansmann, Harald StachelscheidBerlin Institute of Health at Charité – Universitätsmedizin Berlin. Hannover Medical School. Children’s Hospital, General Hospital Vienna, Medical University of Vienna. European Pediatric Pulmonary Vascular Disease Network.Germany and Austria Stem Cell ResearchStem Cell Res 2025; DOI: 10.1016/j.scr.2025.103886 AbstractHeritable pulmonary arterial hypertension (HPAH) and underlying

Generation of 5 hiPSC lines from pediatric patients with Heritable pulmonary arterial hypertension (HPAH) caused by heterozygous mutations in the TBX4 gene Read More »

Meta-Analysis of Differential Gene Expression in Idiopathic Pulmonary Arterial Hypertension

Andy P. Huang, Sarah Voskamp, Ameneh A. Ebadi, Jennifer L. Liedel, Jennifer S. Nelson, Joseph KuruvillaUniversity of Central Florida. Nemours Children’s Hospital. United States Cardiovascular PathologyCardiovasc Pathol 2025;  DOI: 10.1016/j.carpath.2025.107805 AbstractBackground: Idiopathic pulmonary arterial hypertension (IPAH) is a subtype of pulmonary arterial hypertension and impacts both children and adults. IPAH has overall poor survival, highlighting the importance

Meta-Analysis of Differential Gene Expression in Idiopathic Pulmonary Arterial Hypertension Read More »

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

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

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 »

Scroll to Top