Genetic Factors Associated With Pulmonary Vascular Disease

Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure

Dana R. Tower, Ronald W. Day, Tighe Marrone, Rachel Palmquist, Lincoln D. Nadauld, Joshua L. Bonkowsky, Sabrina Malone JenkinsUniversity of Utah School of Medicine and Primary Children’s Hospital. Intermountain Precision Genomics. United States Cold Spring Harbor Molecular Case StudiesCold Spring Harb Mol Case Stud 2024; 9:DOI: 10.1101/mcs.a006292 AbstractAlveolar capillary dysplasia (ACD) is a fatal disorder that […]

Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure Read More »

Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing

Tetsuo Onda, Takuma Akimoto, Itaru Hayasaka, Masahiko Ikeda, Yuta Furuse, Akiko Ando, Yuichi Nakamura, Ryota Honjo, Atsushi Manabe, Itsuko Furuta, Kazutoshi ChoHokkaido University Hospital. Japan Early Human DevelopmentEarly Hum Dev 2021; 155:DOI: 10.1016/j.earlhumdev.2021.105323 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare and fatal disorder that occurs in the developing fetal lungs; at

Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing Read More »

Thrombin activatable fibrinolysis inhibitor plasma levels and TAFI Thr325Ile genetic polymorphism in a cohort of Egyptian sickle cell disease patients and impact on disease severity

Mona Hamdy, Iman A. Shaheen, Mohamed Khallaf, Yasmeen M. M. SelimCairo University.Egypt Pediatric Blood and CancerPediatr Blood Cancer 2024; 71:DOI: 10.1002/pbc.30959 AbstractBackground: Thrombin is a critical protease modulating thrombosis as well as inflammation, which are one of the main pathophysiological mechanisms in sickle vasculopathy, and its levels were reported to be high in sickle cell disease (SCD).

Thrombin activatable fibrinolysis inhibitor plasma levels and TAFI Thr325Ile genetic polymorphism in a cohort of Egyptian sickle cell disease patients and impact on disease severity Read More »

Elastin Insufficiency Confers Proximal and Distal Pulmonary Vasculopathy in Mice, Partially Remedied by the KATP Channel Opener Minoxidil: Considerations and Cautions for the Treatment of People With Williams-Beuren Syndrome

Russell H. Knutsen, Leah M. Gober, Elise K. Kronquist, Maninder Kaur, Danielle R. Donahue, Danielle Springer, Zu Xi Yu, Marcus Y. Chen, Yi-Ping Fu, Feri Choobdar, My-Le Nguyen, Sharon Osgood, Joy L. Freeman, Neelam Raja, Mark D. Levin, Beth A. KozelNational Heart, Lung, and Blood Institute; National Institute of Neurological Disorders and Stroke; and National

Elastin Insufficiency Confers Proximal and Distal Pulmonary Vasculopathy in Mice, Partially Remedied by the KATP Channel Opener Minoxidil: Considerations and Cautions for the Treatment of People With Williams-Beuren Syndrome Read More »

Virtual Transcatheter Interventions for Peripheral Pulmonary Artery Stenosis in Williams and Alagille Syndromes

Ingrid S. Lan, R. Thomas Collins, II, Weiguang Yang, Jeffrey A. Feinstein, Michael Ma, Jacqueline Kreutzer, Gregory T. Adamson, Alison L. MarsdenStanford University. University of Pittsburgh.United States Journal of the American Heart AssociationJ Am Heart Assoc 2022; 11:DOI: 10.1161/JAHA.121.023532 AbstractBackground: Despite favorable outcomes of surgical pulmonary artery (PA) reconstruction, isolated proximal stenting of the central PAs

Virtual Transcatheter Interventions for Peripheral Pulmonary Artery Stenosis in Williams and Alagille Syndromes Read More »

Analysis of risk factors associated with extracorporeal membrane oxygenation after surgical repair of peripheral pulmonary artery stenoses

L. Mac Felmly, Richard D. Mainwaring, Claudia Algaze, Elisabeth Martin, Michael Ma, Frank L. HanleyStanford University School of Medicine and Lucile Packard Children’s Hospital.United States Journal of Thoracic and Cardiovascular Surgery OpenJTCVS Open 2023; 13: 344-356DOI: 10.1016/j.xjon.2023.01.011 AbstractObjective: Acute lung injury is a known complication of pulmonary artery reconstruction for peripheral pulmonary artery stenosis. Severe cases may

Analysis of risk factors associated with extracorporeal membrane oxygenation after surgical repair of peripheral pulmonary artery stenoses Read More »

Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants

Mei-Tzu Wang, Ken-Pen Weng, Sheng-Kai Chang, Wei-Chun Huang, Lee-Wei ChenNational Yang Ming Chiao Tung University. Kaohsiung Veterans General Hospital. Excelsior Biopharma Inc. Fooyin University. National Sun Yat-Sen University.Taiwan International Journal of Molecular SciencesInt J Mol Sci 2024; 25:DOI: 10.3390/ijms25052734 AbstractAsians have a higher carrier rate of pulmonary arterial hypertension (PAH)-related genetic variants than Caucasians do. This

Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants Read More »

Characterization of an induced pluripotent stem cell line NCHi011-A from a 23-year-old female with Alagille Syndrome harboring a heterozygous JAG1 pathogenic variant

Isaac Stanberry, David Cunningham, Shiqiao Yea, Matthew Alonzo, Ming-Tao Zhao, Vidu Garg, Brenda LillyNationwide Children’s Hospital and Ohio State University College of Medicine.United States Stem Cell ResearchStem Cell Res 2023; 72:DOI: 10.1016/j.scr.2023.103213 AbstractAlagille syndrome (ALGS) is a multisystem disease with high variability in clinical features. ALGS is predominantly caused by pathogenic variants in the Notch ligand

Characterization of an induced pluripotent stem cell line NCHi011-A from a 23-year-old female with Alagille Syndrome harboring a heterozygous JAG1 pathogenic variant Read More »

Fusion imaging for guidance of pulmonary arteriovenous malformation embolisation with minimal radiation and contrast exposure

Catalina Vargas-Acevedo, Ernesto Mejia, Jenny E. Zablah, Gareth J. MorganUniversity of Colorado and Children’s Hospital Colorado.United States Cardiology in the YoungCardiol Young 2024; DOI: 10.1017/S1047951124000349 AbstractHereditary haemorrhagic telangiectasia is an inherited disorder characterised by vascular dysplasia that leads to the development of arteriovenous malformations. Pulmonary arteriovenous malformations occur in approximately 30% of patients with haemorrhagic telangiectasia.

Fusion imaging for guidance of pulmonary arteriovenous malformation embolisation with minimal radiation and contrast exposure Read More »

Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature

Chiara Maddaloni, Sara Ronci, Domenico Umberto De Rose, Iliana Bersani, Francesca Campi, Matteo Di Nardo, Francesca Stoppa, Rachele Adorisio, Antonio Amodeo, Alessandra Toscano, Maria Cristina Digilio, Antonio Novelli, Giovanni Chello, Annabella Braguglia, Andrea Dotta, Flaminia Calzolar“Bambino Gesù” Children’s Hospital IRCCS. Monaldi Hospital.Italy Italian Journal of PediatricsItal J Pediatr 2024; 50:DOI: 10.1186/s13052-024-01575-3 AbstractTBX4 gene, located on human

Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature Read More »

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