Segmental Pulmonary Arterial Disease Archives

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. […]

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

Noonan Syndrome

Amy RobertsBoston Children’s Hospital.United States GeneReviewsGeneReviews 2025; Bookshelf ID: NBK1124 AbstractAbstract Not Available CategorySegmental Pulmonary Arterial DiseaseGenetic 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: Fresh (PHresh). Less than 1-2 years since publication Article Access Free PDF File

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Systematic Review of the Application of Pulmonary Hypertension Treatments in Ventricular Septal Defect, Pulmonary Atresia, and Major Aortopulmonary Collateral Arteries

Keiichi Hirono, Keiko Uchida, Taku Ishii, Hidekazu Ishida, Shinichi Takatsuki, Hiroyuki Fukushima, Kei Inai, Susumu Hosokawa, Reina Ishizaki, Hirofumi Sawada, Naofumi F. Sumitomo, Ayako Chida-Nagai, Yuichi Ishikawa, Hirohiko Motoki, Atsushi Yao, Shigetoyo Kogaki, Hiroyuki Yamagishi, Shozaburo DoiToyama University Hospital. Tokyo Medical University. Institute of Science Tokyo. Osaka University Graduate School of Medicine. Toho University, Omori

Systematic Review of the Application of Pulmonary Hypertension Treatments in Ventricular Septal Defect, Pulmonary Atresia, and Major Aortopulmonary Collateral Arteries Read More »

Refractory Peripheral Pulmonary Stenosis and Severe Pulmonary Arterial Hypertension Associated With a De Novo Loss-of-Function Variant in FGD5

Lea C. Steffes, Gregory T. Adamson, Kyla E. Dunn, Jeffrey A. FeinsteinLucile Salter Packard Children’s Hospital and Stanford University School of Medicine. United States Pulmonary CirculationPulm Circ 2026; 16: DOI: 10.1002/pul2.70250 AbstractWe report a novel genetic variant in a patient with treatment-resistant peripheral pulmonary artery stenosis (PPS) and progressive pulmonary arterial hypertension (PAH). A premature infant

Refractory Peripheral Pulmonary Stenosis and Severe Pulmonary Arterial Hypertension Associated With a De Novo Loss-of-Function Variant in FGD5 Read More »

Unilateral agenesis of the pulmonary artery and high-altitude pulmonary edema (HAPE) at moderate altitude

M. Sebbane, B. Wuyam, I. Pin, S. Pendlebury, M. Plasse, C. Durand, P. LévyGrenoble Alpes University Hospital.France Pediatric PulmonologyPediatr Pulmonol 1997; 24: 111-114DOI: 10.1002/(sici)1099-0496(199708)24:2<111::aid-ppul6>3.0.co;2-r AbstractAbstract Not Available CategoryHigh Altitude Pulmonary EdemaSegmental Pulmonary Arterial Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication Article Access Free PDF

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Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy

Lucy Collins, Jessica Sandy, Stephanie Ly, Kate E. Lomax, Sarah Black, Fiona McKenzie, Eadaoin Hayes, Cathryn Poulton, Craig Jefferies, Wendy Hunter, Peter Simm, Christine Rodda, Andrew Biggin, Craig Munns, Aris SiafarikasRoyal Children’s Hospital. Monash University. Children’s Hospital at Westmead. University of Sydney. Perth Children’s Hospital. University of Western Australia. King Edward Memorial Hospital. Starship Children’s

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy Read More »

Characterizing Periprocedural Care for Pediatric Patients With Williams Syndrome Undergoing General Anesthesia at a Tertiary Pediatric Hospital

Laura K. Andrews, Reid C. Chamberlain, Susan Silva, Remi Hueckel, Desi Newberry, Warwick Ames, Emily M. FunkUniversity of North Carolina Southeastern Hospital. Duke Children’s Hospital and Health Center and Duke University.United States American Association of Nurse Anesthesiology JournalAANA J 2025; 93: 273-282DOI: 10.70278/AANAJ/.0000001030 AbstractWilliams syndrome is a rare congenital disorder affecting connective tissue and the cardiovascular

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Inhaled iloprost and 2D phase-contrast cardiac MRI in pulmonary vascular reversibility: an adolescent case of anomalous right pulmonary artery from the ascending aorta

Mete Han Kızılkaya, Mehmet Salih Bilal, Terman Gumus, Alpay ÇelikerUniversity School of Medicine. Medicana Health Group. Koc University School of Medicine. Turkey Cardiology in the YoungCardiol Young 2025; DOI: 10.1017/S1047951125109670 AbstractThe anomalous origin of the right pulmonary artery from the ascending aorta is a rare congenital anomaly usually diagnosed in infancy. When diagnosed later during adolescence,

Inhaled iloprost and 2D phase-contrast cardiac MRI in pulmonary vascular reversibility: an adolescent case of anomalous right pulmonary artery from the ascending aorta Read More »

De novo variant in RING finger protein 213 causes systemic vasculopathy

Ayako Kashimada, Tomoko Mizuno, Eriko Tanaka, Susumu Hosokawa, Tomohiro Udagawa, Yuichi Hiraoka, Keisuke Uchida, Tomohiro Morio, Kenjiro Kosaki, Masatoshi TakagiInstitute of Science Tokyo. Kyorin University. Keio University.Japan Journal of Clinical Investigation InsightJCI Insight 2025; DOI: 10.1172/jci.insight.190094 AbstractSystemic arterial stenosis, including moyamoya disease (MMD) and middle aortic syndrome (MAS), is a rare condition of unclear etiology. MMD

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One-stage relief of bilateral outflow tract obstruction and left main coronary ostial stenosis in an infant with Williams syndrome: the technique

Ali H. Mashadi, Yasin Essa & Sameh M. SaidMaria Fareri Children’s Hospital and Westchester Medical Center.United States Multimedia Manual of Cardio-Thoracic SurgeryMultimed Man Cardiothorac Surg 2025; DOI: 10.1510/mmcts.2024.117 AbstractA 3-month-old, 5.2-kg infant with Williams syndrome presented with failure to thrive and a systolic murmur. He was taken to the cardiac catheterization laboratory for a planned pulmonary

One-stage relief of bilateral outflow tract obstruction and left main coronary ostial stenosis in an infant with Williams syndrome: the technique Read More »