Genetic Factors Associated With Pulmonary Vascular Disease

Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease

Ophelia Entsir Dadzie, Lidia Tyszczuk, Susan E. Holder, Fernanda Teixeira, Aikaterina Charakida, Julia Scarisbrick, Anthony ChuHammersmith Hospital.United Kingdom Pediatric DermatologyPediatr Dermatol 2007; 24: 651-653DOI: 10.1111/j.1525-1470.2007.00556.x AbstractWe report a neonate with cutis marmorata telangiectatica congenita and clinical features of Adams-Oliver syndrome in association with severe pulmonary vascular disease. We provide an overview of cutis marmorata telangiectatica congenita, […]

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Novel KCNK3 variant in a child with pulmonary arterial hypertension

Yi-ming Zheng, Jia-qi Jiang, Xuan Li, Hong-biao Huang, Wen-yu Zhuo, Xuan Tang, Ying Liu, Hai-tao LvChildren’s Hospital of Soochow University. Fujian Provincial Hospital and Fujian Provincial Clinical College of Fujian Medical University. People’s Hospital of Qianxinan Buyi and Miao Minority Autonomous Prefecture. Jiangyin People’s Hospital. China HereditasHereditas 2026; DOI: 10.1186/s41065-026-00680-z AbstractBackground: Pathogenic variants in KCNK3 have

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Chromosome 17q23.1-q23.2 deletion syndrome with severe pulmonary hypertension in neonates: two case reports and literature review

Xiaojiao Wu, Yanyan Cao, Jiancheng Jiao, Junchen Fang, Yudong Zhang, Li MaChildren’s Hospital of Hebei Province and Hebei Clinical Medicine Research Center for Children’s Health andDiseases.China BioMedical Central PediatricsBMC Pediatr 2026; DOI: 10.1186/s12887-026-06839-x AbstractBackground: Chromosome 17q23.1-q23.2 deletion syndrome is a rare genetic disorder characterized by various congenital defects, including microcephaly, heart and lung defects, limb abnormalities,

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Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension

Anna Lehman, Sana Ahmed, Arezoo Mohajeri, Alison M. Berezuk, Dhiraj Mannar, Spencer Cholak, Katharine S. Tuttle, James T. Bennett, Jeanine Aparecida Magno, Mark Hannibal, Gordana Kovacevik, Vladimir Kuburovic, M.E. Suzanne Lewis, Oana Moldovan, Zoe Nelson, Salmo Raskin, Anthony M. Vandersteen, Jared C. Roach, Sriram Subramaniam, Millan S. PatelUniversity of British Columbia. University of Washington School

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Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review

Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine WillemsUniversity Hospital of Montpellier and Montpellier University. CESP Center for Research in Epidemiology and Population Health. Hospices Civils de Lyon & Université Claude Bernard. France Prenatal DiagnosisPrenat Diagn 2026; DOI: 10.1002/pd.70134 AbstractNoonan syndrome (NS) is

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Pulmonary Hypertension in Down Syndrome Versus Non-syndromic Pediatric Populations With Congenital Heart Disease: A Comparative Study

Tariqul Islam, Tahmina Karim, Sadia Afrin Mony, Mostafizur Rahman Bhuyan, Faizah IslamBangladesh Medical University.Bangladesh CureusCureus 2026; 18: DOI: 10.7759/cureus.104634 AbstractBackground: Down syndrome (DS), or trisomy 21, is the most common chromosomal disorder associated with congenital heart disease (CHD), profoundly affecting disease progression and management. While 4-10% of all CHD cases occur in DS, 40-60% of individuals with

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A Rare Phenotype of X-linked Myotubular Myopathy: Hydrops Fetalis and Refractory Congenital Chylothorax with Fatal Outcome

Chousein Amet, Umut Altunoglu, Süleyman Bayraktar, Bilge Bayraktar TanyeriBiruni University. Koç University. Haseki Training and Research Hospital.Turkey Zeitschrift für Geburtshilfe und NeonatologieZ Geburtshilfe Neonatol 2026; DOI: 10.1055/a-2825-7263 AbstractAbstract Not Available CategoryPrimary Pulmonary Lymphatic DiseaseGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years

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Pulmonary Hypertension in Pediatric Patients with Noonan Syndrome Undergoing Cardiac Catheterization

Shane L. Collins, Paul J. Critser, Kimberlee Gauvreau, Diego Porras, Amy E. Roberts, Mary P. MullenBoston Children’s Hospital and Harvard Medical School. Cincinnati Children’s Hospital and University of Cincinnati College of Medicine. United States Pediatric CardiologyPediatr Cardiol 2026; DOI: 10.1007/s00246-026-04235-x AbstractNoonan syndrome (NS) is an autosomal dominant genetic disorder associated with a high incidence of cardiovascular

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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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