Class 1. Heritable Pulmonary Hypertension

A large animal model of heritable pulmonary arterial hypertension using gene-edited BMPR2 sheep

Sanjeev A. Datar, Nicholas Werry, Austin R. Brown, Devon S. Fitzpatrick, Oluwafemi Falade, Josephine F. Trott, Rachel Hutchings, Elena K. Amin, Jessica M. Morgan, Hythem Nawaytou, Gail H. Deutsch, Eric G. Johnson, Omar A. Gonzales Viera, Thomas F. Bishop, Tara Urbano Beach, Bret R. McNabb, Eric D. Austin, Jeffrey R. Fineman, Alison L. Van EenennaamUniversity […]

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Recurrent Seizure-Like Events in a Toddler With BMPR2-Related Pulmonary Arterial Hypertension

Nur Sena Cagatay, Neha Ahluwalia, Aimee LuatChildren’s Hospital of Michigan.United States Ochsner JournalOchsner J 2026; 26: 179-182DOI: 10.31486/toj.25.0109 AbstractBackground: Seizure-like episodes are common in children, but many spells are not true epileptic seizures. Cardiac or pulmonary conditions such as pulmonary arterial hypertension can be the cause of the seizure-like episodes, particularly when the events persist despite administration

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An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension

Abdullah Aldalaan, Seba Nadeef, Ebtissal Khouj, Fayez Alahmadi, Bayan Aljamal, Noura Alturaif, Nadeen Alharbi, Firdous Abdulwahab, Mashael Alqahtani, Fatima Alzubi, Omar Abuyousef, Mais O. Hashem, Hamdiah Zaytoun, Hanadi Alhamoud, Tarfa Alshidi, Amal Jaafar, Lama Alabdi, Fowzan S. AlkurayaKing Faisal Specialist Hospital and Research Center. Lifera Omics.Saudi Arabia Clinical GeneticsClin Genet 2026; DOI: 10.1111/cge.70191 AbstractGrowth differentiation factor

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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

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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

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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,

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