Class 1. Heritable Pulmonary Hypertension

A Rare Case of Multi-System Involvement and Hereditary Pulmonary Hypertension Caused by De Novo Heterozygous CAV1 Mutation in a Pediatric Patient

Yan Sun, Qingyou Zhang, Yaqian Huang, Xueqin LiuPeking University First Hospital.China ChildrenChildren 2026; 13: DOI: 10.3390/children13050694 AbstractBackground: Pulmonary arterial hypertension is a rare but life-threatening condition in children, with hereditary forms often being linked to mutations in genes such as bone morphogenetic protein receptor type 2 (BMPR2), caveolin 1 (CAV1), and potassium channel subfamily K member […]

A Rare Case of Multi-System Involvement and Hereditary Pulmonary Hypertension Caused by De Novo Heterozygous CAV1 Mutation in a Pediatric Patient Read More »

The preponderance of genetic variations in paediatric pulmonary hypertension

Julien Grynblat, Melanie Eyries, Marine Ambar-Akkaoui, Marilyne Levy, Mathilde Meot, Isabelle Szezepanski, Julien Ranchoup, Alessia Callegari, Julie Karila-Cohen, Caroline Bonnet, Pierre Marijon, Jerome Champ, Florence Coulet, Caroline Ovaert, Frederic Perros, Fabrice Antigny, Pascale Maragnes, Guy Vaksmann, Marc Humbert, Sophie Guiti Malekzadeh Milani, David Montani Damien BonnetHôpital Necker-Enfants malades, AP-HP, Université de Paris Cité, Université Paris-Saclay,

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Clinical Utility of Stroke Volume Index in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension

Shinichi Takatsuki, Kinjal Parikh, Mio Sato, Yuta Kawamura, Yurika Shimizu, Reiko Kawai, Dunbar IvyToho University Omori Medical Center. Inova Children’s Hospital. University of Colorado School of Medicine.Japan and United States Pediatric CardiologyPediatr Cardiol 2026; DOI: 10.1007/s00246-026-04241-z AbstractTo determine the prognostic value of stroke volume index (SVi) in children with idiopathic and heritable pulmonary arterial hypertension (PAH).

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Somatic PIK3CA Activating Mutation in a Plexiform Lesion of a Patient With HHT and PAH

Katharina Schimmel, Tucker Hallmark, Evon DeBose-Scarlett, Yue Qi, Serena Tan, Domenico Mastrodicasa, Rachel K. Hopper, Joseph Wu, Douglas Marchuk, Edda SpiekerkoetterUniversity of Arizona College of Medicine-Phoenix and Phoenix Children’s Hospital. Duke University School of Medicine. Stanford University School of Medicine and Lucile Packard Children’s Hospital. University of Washington School of Medicine. United States Journal of

Somatic PIK3CA Activating Mutation in a Plexiform Lesion of a Patient With HHT and PAH Read More »

Hereditary Hemorrhagic Telangiectasia

Jamie McDonald, James R Gossage, David A StevensonUniversity of Utah Medical Center. Augusta University. Stanford UniversityUnited States GeneReviewsGeneReviews 2026; Bookshelf ID: NBK1351 AbstractAbstract Not Available CategoryClass I. Heritable Pulmonary HypertensionPulmonary Arteriovenous MalformationsGenetic Factors Associated with Pulmonary Vascular DiseaseReview Articles Concerning Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease Fresh or Filed Publication:

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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

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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

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