Pediatric Pulmonary Vascular Disease

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

Alejandro Cruz-Utrilla1, Natalia Gallego-Zazo, Jair Antonio Tenorio-Castaño, Inmaculada Guillén, Alba Torrent-Vernetta, Amparo Moya-Bonora, Carlos Labrandero, María Elvira Garrido-Lestache Rodríguez-Monte, Alejandro Rodríguez-Ogando, María del Mar Rodríguez Vázquez Del Rey, Juana Espín, Beatriz Plata-Izquierdo, María Álvarez-Fuente, Antonio Moreno-Galdó, Pilar Escribano-Subias, María Jesús Del Cerro MarínHospital Universitario 12 de Octubre. Hospital Universitario La Paz. Instituto de Salud Carlos […]

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Genetic cause of pulmonary veno-occlusive disease

Kaustubh Mohite, Anil Kumar SapareNarayana Health City.India Lung IndiaLung India 2022; 39: 191-194DOI: 10.4103/lungindia.lungindia_252_21 AbstractPulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic criteria are formulated.

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Pediatric pulmonary veno-occlusive disease associated with a novel BMPR2 variant

Wataru Takemori, Kenichiro Yamamura, Yoshitaka Tomita, Naoki Egami, Hazumu Nagata, Hiromitsu Shirouzu, Yuichi Ishikawa, Daisuke Nakajima, Akihiko Yoshizawa, Hiroshi Date, Shouichi OhgaKyushu University. Fukuoka Children’s Hospital. Kyoto University Graduate School of Medicine, Kyoto and Kyoto University Hospital.Japan Pediatric PulmonologyPediatr Pulmonol 2022; 57: 1366-1369DOI: 10.1002/ppul.25877 AbstractPulmonary veno-occlusive disease (PVOD) and idiopathic/heritable pulmonary arterial hypertension (I/HPAH) cause progressive

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Pulmonary veno-occlusive disease after respiratory syncytial virus infection in a post hematopoietic stem cell transplantation patient

Tatsuo Watanabe, Kazutoshi Komori, Shoji Saito, Eriko Uchida1,Takashi Kurata, Masatomo Kitamura, Hikoro Matsui, Kohta Takei, Yoshifumi Ogiso, Keiko Ohta-Ogo, Yozo Nakazawa, Kazuo SakashitaNagano Children’s Hospital. Shinshu University School of Medicine. The University of Tokyo. National Cerebral and Cardiovascular Center.Japan Blood Cell TherapyBlood Cell Ther 2023; DOI: 10.31547/bct-2022-005 AbstractBackground: Pulmonary veno-occlusive disease (PVOD) is a rare but fatal

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Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene

Ben Kang, Su-Kyeong Hwang, Sujin Choi, Eun Soo Kim, Sang Yub Lee, Chang-Seok Ki, Eun-Hae Cho, Ji-Hyuk Lee, Byung-Ho ChoeKyungpook National University. GC Genome. Chungbuk National University College of Medicine.Republic of Korea Translational PediatricsTransl Pediatr 2021; 10: 1369-1376DOI: 10.21037/tp-21-12 AbstractJuvenile polyposis/hereditary hemorrhagic telangiectasia (JPS/HHT) syndrome is a rare, autosomal dominant disorder caused by mutations in the SMAD4 gene,

Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene Read More »

Extra corporeal membrane oxygenation support for neonatal vein of Galen aneurysmal malformation: Case report

D. Abrahan, N.K. Yeaney, M. A. Hamzah, M. D. Bain, H. k> Najm, S. Q. Latifi, H. S. AgarwalCleveland Clinic.United States Journal of Neonatal and Perinatal MedicineJ Neonatal Perinatal Med 2021; 14: 433-436DOI: 10.3233/NPM-200435 AbstractBackground: The vein of Galen aneurysm (VGAM) is the most common type of arteriovenous malformation in the neonate. These neonates commonly present with

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Transverse sinus dural arteriovenous fistula: a reversible cause of severe pulmonary hypertension in an extremely premature infant

Leah Jordan , Nathan Rodgers, Kari D. RobertsUniversity of Minnesota Medical Center.United States British Medical Journals Case ReportsBMJ Case Rep 2021; 14: DOI: 10.1136/bcr-2020-239544 AbstractNo Abstract Available CategoryClass I. Pulmonary Hypertension Associated with Congenital Cardiovascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication Article Access

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Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in children

Joshua Hodgson, Lidia Ruiz- Llorente, Jamie McDonald, Oliver Quarrell, Kelechi Ugonna, James Bentham, Rebecca Mason, Jennifer Martin, David Moore, Katie Bergstrom, Pinar Bayrak- Toydemir, Whitney Wooderchak-Donahue, Nicholas W. Morrell, Robin Condliffe, Carmelo Bernabeu, Paul D. UptonUniversity of Cambridge. Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras. University of Alcalá, Madrid. University of Utah. Sheffield Children’s Hospital. Leeds

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in children Read More »

Pulmonary arteriovenous malformation in a child with multiple brain abscesses: A case report

S. T. Hlophe, R. MasekelaNelson R Mandela School of Clinical Medicine and University of KwaZulu-Nata.South Africa African Journal of Thoracic and Critical Care Medicine Afr J Thorac Crit Care Med 2021; 27: DOI: 10.7196/AJTCCM.2021.v27i1.109 AbstractPulmonary arteriovenous malformations (PAVMs) are caused by abnormal connections between arteries and veins, which lead to right-to-left shunting of deoxygenated blood. Here, we

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Abnormalities in the Von Willebrand-Angiopoietin Axis Contribute to Dysregulated Angiogenesis and Angiodysplasia in Children With a Glenn Circulation

Carlo R. Bartoli, Samson Hennessy-Strahs, Robert D. Dowling, J. William Gaynor, Andrew C. GlatzHospital of the University of Pennsylvania, Children’s Hospital of Philadelphia and University of Pennsylvania. Penn State University College of Medicine.United States Journal of the American College of Cardiology Basic Translational ScienceJACC Basic Transl Sci 2021; 6: 222-235DOI: 10.1016/j.jacbts.2020.12.014 AbstractChildren with a bidirectional superior

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