Genetic Factors Associated With Pulmonary Vascular Disease

The Value of Lung Biopsy in Infants up to 3 Months With Diffuse Lung Disease in a Resource-Limited Setting

Pierre Goussard, Pawel Schubert, Lizelle van Wyk, Lynn Booysen, André Gie, Michael Urban, Jacques Janson, Savvas Andronikou, Ernst EberStellenbosch University and Tygerberg Hospital. University of the Witwatersrand. Children’s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine. Medical University of GrazSouth Africa, United States and Austria Canadian Respiratory JournalCan Respir J 2026; DOI: 10.1155/carj/1509295 […]

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ELN-Associated Supravalvular Aortic Stenosis With a Williams Syndrome-Like Cardiovascular Phenotype in a Neonate: A Case Report

Jamshaid Akhtar, Kawthar Faour, Rakesh Donthula, Srilatha AlapatiTexas Tech University Health Sciences Center. Covenant Hospital Michigan. United States CureusCureus 2026; 18: DOI: 10.7759/cureus.112187 AbstractWilliams syndrome (WS) is a rare microdeletion disorder affecting chromosome 7q11.23, including the ELN gene, which encodes elastin. Haploinsufficiency of ELN leads to vascular abnormalities, such as supravalvular aortic stenosis (SVAS), pulmonary stenosis, and coronary artery disease.

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The Epidemiology of Pulmonary Hypertension in Sub-Saharan Africa-A Systematic Report

Katarina Zeder, Lanjing Wang, Veranyuy Ngah, Armella Santi, Eric W. Robbins, Ana O. Mocumbi, Judith Namuyonga, Peter Nyasulu, Gabor Kovacs, Marc Humbert, Geoff Strange, Simon Stewart, Guoqing Diao, Bradley A. MaronUniversity of Maryland. Medical University of Graz. George Washington University. Stellenbosch University. University Eduardo Mondlane. Uganda Heart Institute and Makerere University College of Health Sciences.

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A Study on the Clinical Phenotypes and Genetic Analysis of ENG Variants in Four Hereditary Hemorrhagic Telangiectasia Type 1 Families

Yujing Gong, Tingmin Zhou, Xinru Fu, Yiyi Jiang, Danping Wang, Chuangjie Gu, Ruiting Wu, Dan Wang, Chang YuAffiliated Women and Children’s Hospital of Jiaxing University. First Affiliated Hospital of Wenzhou Medical University. Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University. China Human MutationHum Mutat 2026; DOI: 10.1155/humu/8307860 AbstractBackground: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal

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Brain Abscess as the Initial Manifestation of Hereditary Hemorrhagic Telangiectasia in a Child

Zu-Liang He, Zi-Xuan Huang, Ya-Qiong HeFirst Affiliated Hospital of Hunan Normal University and Hunan Provincial People’s Hospital. China Pediatric NeurologyPediatr Neurol 2026; 183: 186-188DOI: 10.1016/j.pediatrneurol.2026.07.029 AbstractBackground: Brain abscess secondary to pulmonary arteriovenous malformation is rare in children and may be the first manifestation of hereditary hemorrhagic telangiectasia (HHT).Methods: We retrospectively reviewed the clinical presentation, laboratory findings, imaging examinations,

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Incidental Diagnosis of Hereditary Hemorrhagic Telangiectasia Following Perioperative Hypoxemia in a 4-Year-Old Child

Chun-Chen Sun, Chen-Hsiu ChenTaoyuan Armed Forces General Hospital. National Defense Medical University. Kaohsiung Veterans General Hospital. National Yang Ming Chiao Tung University. National Sun Yat-Sen University.Taiwan Respirology Case ReportsRespirol Case Rep 2026; 14: DOI: 10.1002/rcr2.70707 AbstractA 4-year-old girl with no prior respiratory history developed refractory intraoperative hypoxemia during elective dental surgery under general anaesthesia. Despite 100%

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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

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A Novel MYRF Variant Presenting With Scimitar Syndrome, Hepatopulmonary Fusion, Right-Sided Congenital Diaphragmatic Hernia, and Uterine Didelphys

Gul Sher, Samantha Weaver, Rahul Adwani, Jai Parkash UdassiWest Virginia University Golisano Children’s Hospital and West Virginia University School of MedicineUnited States Case Reports in PediatricsCase Rep Pediatr 2026; DOI: 10.1155/crpe/8646210 AbstractThe MYRF gene encodes a pleiotropic transcription factor essential for the development of multiple organ systems, including the heart, lungs, diaphragm, and genitourinary tract. Pathogenic variants in MYRF are

A Novel MYRF Variant Presenting With Scimitar Syndrome, Hepatopulmonary Fusion, Right-Sided Congenital Diaphragmatic Hernia, and Uterine Didelphys Read More »

Prevalence of pulmonary hypertension in children with Prader-Willi Syndrome

Shirleen Kohn, Mari Evans, Reem Itani, Shuo Wang, Jacqueline Szmuszkovicz, Sally L. Davidson Ward, Thomas G. Keens, Iris A. PerezChildren’s Hospital Los Angeles and Keck School of Medicine, University of Southern California. United States Sleep MedicineSleep Med 2026; 148: DOI: 10.1016/j.sleep.2026.109190 AbstractRationale: Prader-Willi Syndrome (PWS) is associated with obesity and sleep-related breathing disorders (SRBD). Pulmonary hypertension (PH)

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Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Lucía Miranda-Alcaraz, Simone Carbonera, Mónica Mora-Gómez, Natalia Gallego-Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez-Amell, Mario Cazalla, Manuel Rodríguez-Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez-Estrada, Tomás Valle, Alejandro Cruz-Utrilla, Pilar Escribano-Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio-CastanoHospital Universitario

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