Genetic Factors Associated With Pulmonary Vascular Disease

Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension

Sofia Karl, Ekkehard Grünig, Memoona Shaukat, Matthias Held, Christian Apitz, Fabian von Scheidt, Ralf Geiger, Michael Halank, Karen M. Olsson, Marius M. Hoeper, Jan C. Kamp, Gabor Kovacs, Horst Olschewski, Hans-Jürgen Seyfarth, Katrin Milger, Ralf Ewert, Hans Klose, Benjamin Egenlauf, Panagiota Xanthouli, Katrin Hinderhofer, Christina A. EichstaedtHeidelberg University Hospital and Heidelberg University. KWM Missio Clinic. […]

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Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome

Michelle Yoo, Amit Shah, Haitham Shahrour, Hong Li, Ajay S. KasiEmory University and Children’s Healthcare of Atlanta.United States Journal of Clinical Sleep MedicineJ Clin Sleep Med 2025;DOI: 10.5664/jcsm.11644 AbstractPaired-like homeobox 2B (PHOX2B) gene variants cause congenital central hypoventilation syndrome (CCHS) characterized by abnormal ventilatory control necessitating lifelong assisted ventilation (AV). We report a 3-year-old girl who

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Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report

Hidenori Kawasaki, Kazuhiko Nakabayashi, Masahiko Ikeda, Tetsuo Onda, Seiichi Tomotaki, Masako Torishima, Akiko Saito, Hirofumi Ohashi, Sachiko Minamiguchi, Kenichiro Hata, Masahiro Hayakawa, Masahiko Kawai, Kazutoshi Cho, Shinji Kosugi, akahiro YamadaKyoto University School of Public Health, Kyoto University Hospital and Kyoto University. National Center for Child Health and Development. Hokkaido University Hospital. Nagoya University Hospital. Saitama

Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report Read More »

Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome

Isabel De Brouchoven, Juan Lorand, Léon Bofferding, Arthur Sorlin, An Van Damme, Olivier DanhaiveSaint-Luc University Hospital,. Luxembourg Hospital Center. Laboratoire National de Santé. University of California San Francisco.Belgium, Luxembourg and United States Frontiers in PediatricsFront Pediatr 2025; 13: DOI: 10.3389/fped.2025.1475143 AbstractIntroduction: Rare pathogenic variants in the PTPN11, KRAS, SOS1 and RAF1 genes are the main molecular causes of Noonan syndrome (NS).

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Airway Anomalies Predict Risk of Pediatric Pulmonary Hypertension

Elana R. Kriegel, Aditya Srinivasen, Luke Mammen, Harini Venkataganesh, Jess T. Randall, Lara ReichertAlbany Medical College and Albany Medical Center.United States Pediatric PulmonologyPediatr Pulmonol 2025; 60: DOI: 10.1002/ppul.71028 AbstractIntroduction: Pediatric pulmonary hypertension (PH) significantly contributes to morbidity and mortality due to the progressive nature of the disease in some subtypes, which leads to severe right heart failure,

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Recanalization and interventional stenting of a closed ductus arteriosus in pulmonary hypertension associated with von Hippel-Lindau disease: a case report

Emine Gülsah Torun, Denizhan Bagrul, Ibrahim EceAnkara Bilkent City Hospital.Turkey Cardiology in the YoungCardiol Young 2025; DOI: 10.1017/S1047951125001374 AbstractPulmonary arterial hypertension remains a progressive, life-threatening condition despite advances in medical treatments. We report the first case of the interventional creation of a reverse Potts shunt by stenting a closed ductus arteriosus in a four-year-old child with

Recanalization and interventional stenting of a closed ductus arteriosus in pulmonary hypertension associated with von Hippel-Lindau disease: a case report Read More »

Mechanism of action of aloperine in the treatment of pulmonary arterial hypertension based on network pharmacology and molecular docking methods

Yanrong Wang, Baolan Yan, Pengsheng Ma, Ru Zhou, Fang ZhaoGeneral Hospital of Ningxia Medical University and Ningxia Medical University. China Herz Cardiovascular DiseaseHerz 2025; DOI: 10.1007/s00059-025-05295-0 AbstractBackground: Pulmonary arterial hypertension is a severe pulmonary vascular disease, marked by high mortality and substantial treatment costs, underscoring the urgent need for the exploration of traditional Chinese medicine as a

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X-linked filaminopathy: another pulmonary hypertension syndrome

Eric D. AustinVanderbilt University Medical Center.United States European Respiratory JournalEur Respir J 2025; 65: DOI: 10.1183/13993003.00073-2025 AbstractAbstract Not Available CategoryClass I. Heritable Pulmonary HypertensionGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication Article Access Free PDF File or Full Text

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Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib

Yu Xia, Yu Sun, Taozi Du, Chengkai Sun, Ying Xu, Wensong Ge, Lili Liang, Ruifang Wang, Manqing Sun, Bing Xiao, Wenjuan QiuXinhua Hospital, Ruijin Hospital and Shanghai Jiao Tong University. China Journal of the American Medical Association Network OpenJAMA Netw Open 2025; 8: DOI: 10.1001/jamanetworkopen.2024.61888 AbstractImportance: Glycogen storage disease type Ib (GSDIb) is a rare metabolic disorder

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Extremely rare association: Desbuquois dysplasia type 1 with coronary-cameral fistula

Musa Öztürk, Hayrettin Hakan Aykan, Pelin Özlem Şimşek KiperHacettepe University Hospital.Turkey Cardiology in the YoungCardiol Young 2025; DOI: 10.1017/S1047951125000551 AbstractPurpose: Desbuquois dysplasia type 1 is a rare autosomal recessive chondrodysplasia characterised by distinct skeletal abnormalities and multisystem involvement, including pulmonary, renal, and ocular abnormalities, has also been reported. Cardiac complications, although infrequently discussed in the literature, include

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