Class 1. Heritable Pulmonary Hypertension Archives

Early Detection and Therapy of Asymptomatic Group 1 Pulmonary Hypertension Following Genetic Testing: A Case Involving Familial KCNK3 Variants

Julia Rodighiero, Joshua Durbin, Lauren Badalato, Stephen L. ArcherQueen’s University. Canada Canadian Journal of Cardiology OpenCJC Open 2026; DOI: 10.1016/j.cjco.2026.04.013 AbstractAbstract Not Available CategoryClass I. Heritable Pulmonary HypertensionGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since […]

Early Detection and Therapy of Asymptomatic Group 1 Pulmonary Hypertension Following Genetic Testing: A Case Involving Familial KCNK3 Variants Read More »

Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies

Kate M. Crowther, Thibault R. H. Jouen-Tachoire, Peter Proks, Peter Rory Hall, Emma L. Veale, Janina Sörmann, Karin E. J. Rödström, Thomas Müller, Saskia B. Wortmann, Nina Barisic, Natalie Hauser, Vincenzo Salpietro, RaeLynn Forsyth, Linford Williams, Nora Derrabi, Carlos A. Bacino, Jill A. Rosenfeld, Henry Houlden, Simon Newstead, Caroline F. Wright, James Fasham, Alistair A.

Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies Read More »

Unusual Clinical Course of Pediatric Pulmonary Hypertension with Underlying SOX17 Mutation

Aldana Rojas, David L. S. Morales, Kathryn A. Wikenheiser-Brokamp, Don Hayes Jr.Cincinnati Children’s Hospital Medical Center and University of Cincinnati.United States Annals of the American Thoracic SocietyAnn Am Thorac Soc 2026; DOI: 10.1093/annalsats/aaoag216 AbstractAbstract Not Available CategoryClass I. Heritable Pulmonary HypertensionGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed

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A Case of High Pressure and High Stakes: Pulmonary Arterial Hypertension Emergence in an Infant With Hereditary Hemorrhagic Telangiectasia

Amal Ahmed, Anna M. Brown, Samantha J. Eagle, Evan L. Brittain, Anna R. Hemnes, Rachel T. Sullivan, Eric D. AustinMeharry Medical College School of Medicine. Vanderbilt University Medical Center and Monroe Carell Jr. Children’s Hospital. United States Pulmonary CirculationPulm Circ 2026; 16: DOI: 10.1002/pul2.70375 AbstractHereditary hemorrhagic telangiectasia (HHT) is an autosomal‑dominant vascular disease characterized by telangiectasias

A Case of High Pressure and High Stakes: Pulmonary Arterial Hypertension Emergence in an Infant With Hereditary Hemorrhagic Telangiectasia Read More »

Misdiagnosed as Idiopathic PAH: Methylmalonic Acidemia as a Reversible Cause of Pediatric Pulmonary Hypertension

Yan Wu, Yuan-Rui Deng, Xiao-Pei Cui, Sheng-Song Zhu, Jiang Shan Tan, Song Hu, Lu HuaFuwai Hospital, Fuwai Shenzhen Hospital and Peking Union Medical College. Qilu Hospital of Shandong University. China Journal of Heart and Lung TransplantationJ Heart Lung Transplant 2026; DOI: 10.1016/j.healun.2026.07.021 AbstractBackground: Methylmalonic acidemia (MMA)-induced pulmonary hypertension (PH) is a rare but treatable cause of pediatric

Misdiagnosed as Idiopathic PAH: Methylmalonic Acidemia as a Reversible Cause of Pediatric Pulmonary Hypertension Read More »

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

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

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,

The preponderance of genetic variations in paediatric pulmonary hypertension Read More »