Genetic Factors Associated With Pulmonary Vascular Disease

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review

Cui, Xuxia, Zhong, Yajing, Yin, ChongjuanFirst Hospital of Shanxi Medical University.China MedicineMedicine 2026; 105: DOI: 10.1097/MD.0000000000048340 AbstractRationale: Cobalamin C (cblC) deficiency is one of the most common congenital vitamin B12 metabolic abnormalities, and may cause severe neurologic symptoms, gastrointestinal and nephritic symptoms.Patient concerns: A 9-month-old boy presented with a 10-day history of progressive dyspnea and weak cough, accompanied by […]

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review Read More »

Inflachromene attenuates monocrotaline-induced pulmonary arterial hypertension by suppressing the HMGB1-TLR4/RAGE-NF-κB signaling pathway

Yueru Wang, Dina Nuerlan, Bilali Paizula, Yimuran Kawulijiang, Jiyao Chen, Hong Zhu, Wentao Xiao, Zhayier Tueraili, Guoming ZhangFirst Affiliated Hospital of Xinjiang Medical University. Second Affiliated Hospital of Xinjiang Medical University. First Affiliated Hospital of Shihezi University.China International ImmunopharmacologyInt Immunopharmacol 2026; DOI: 10.1016/j.intimp.2026.116712 AbstractPulmonary arterial hypertension (PAH) is a debilitating and fatal cardiovascular disorder marked by

Inflachromene attenuates monocrotaline-induced pulmonary arterial hypertension by suppressing the HMGB1-TLR4/RAGE-NF-κB signaling pathway Read More »

Excessive Postnatal Smooth Muscle Differentiation in a Lung Specific Model of TBX4-related Pulmonary Hypertension

Lea C. Steffes, Kaylie A. Chiles, Sehar R. Masud, Aleen Rahman, Madeline Dawson, Csaba Galambos, Maya E. Kumar, Ripla AroraStanford University School of Medicine. Michigan State University. University of Colorado School of Medicine and Children’s Hospital Colorado.United States Journal of Clinical Investigation InsightsJCI Insights 2026; DOI: 10.1172/jci.insight.194251 AbstractHeterozygous TBX4 variants are the second most common genetic

Excessive Postnatal Smooth Muscle Differentiation in a Lung Specific Model of TBX4-related Pulmonary Hypertension Read More »

R213G-Mediated Redistribution of EC-SOD Protects Against Sugen-Hypoxia Pulmonary Hypertension in Mice

Daniel Colon Hidalgo, Caitlin V. Lewis, Thi‐Tina N. Nguyen, Janelle N. Posey, Samuel D. Burciaga, Nathan Dee, Christina Sul, Julie Harral, David Irwin, Cassidy Delaney, Eva S. NozikUniversity of Colorado Anschutz Medical Campus. United States Pulmonary CirculationPulm Circ 2026; 16: DOI: 10.1002/pul2.70307 AbstractPulmonary hypertension (PH) is a progressive and life-threatening disease characterized by pulmonary vascular remodeling

R213G-Mediated Redistribution of EC-SOD Protects Against Sugen-Hypoxia Pulmonary Hypertension in Mice Read More »

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,

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

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

Novel KCNK3 variant in a child with pulmonary arterial hypertension Read More »

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,

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

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

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

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

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

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

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

Scroll to Top