Filed (PHiled). Greater than 1-2 years since publication

Pulmonary arteriovenous malformation in a pediatric patient with epistaxis and hypoxemia

Ryan W. England, Clifford R. WeissJohns Hopkins Hospital.United States Radiology Case ReportsRadiol Case Rep 2020; 15: 1759-1763DOI: 10.1016/j.radcr.2020.07.026 AbstractHereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu syndrome) is an inherited vascular disorder with a spectrum of clinical manifestations depending on lesion distribution. Epistaxis, mucocutaneous telangiectasia, and gastrointestinal bleeding are most common. Patients with pulmonary arteriovenous malformations […]

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[Case report of hereditary hemorrhagic telangiectasia in children and literature review]

Liu Jinrong, Liu Hui, Wang Bei, Zhang Yuhe, Xu Hui, Tang Xiaolei, Li Huimin, Zhao ShunyingBeijing Children’s Hospital Affiliated to Capital Medical University and National Center for Children’s Health. Beijing Renhe Hospital.China Chinese Journal of PediatricsZhonghua Er Ke Za Zhi 2020; 58: 674-678DOI: 10.3760/cma.j.cn112140-20200415-00386 AbstractObjective: To analyze the clinical features of 2 children with hereditary hemorrhagic telangiectasia (HHT) and review relevant literature. Methods: The clinical data of

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Genotype-Phenotype Correlations in Children with HHT

Alexandra Kilian, Giuseppe A. Latino, Andrew J. White, Dewi Clark, Murali M. Chakinala, Felix Ratjen, Jamie McDonald, Kevin J. Whitehead, James R. Gossage, Doris Lin, Katharine Henderson, Jeffrey Pollak, Justin P. McWilliams, Helen Kim, Michael T. Lawton, Marie E. Faughnan, the Brain Vascular Malformation Consortium HHT Investigator GroupSt. Michael’s Hospital and Li Ka Shing Knowledge

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[Hereditary hemorrhagic telangiectasia: a report of two cases]

Yan Huang, Chen-Tao Liu, Xiang-Rong Zheng, Bo Dou, Rong HuangXiangya Hospital of Central South University.China Chinese Journal of Contemorary PediatricsZhongguo Dang Dai Er Ke Za Zhi 2020; 22: 1041-1042DOI: 10.7499/j.issn.1008-8830.2004196 AbstractThis article reports two children with hereditary hemorrhagic telangiectasia (HHT). Patient 1 was a boy aged 12 years and was admitted due to intermittent cough and

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Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl

Yusuke Hashimoto, Koji Yokoyama, Hideki Kumagai, Yuko Okada, Takanori YamagataJichi Medical University.Japan Clinical Journal of GastroenterologyClin J Gastroenterol 2020; 13: 1096-1101DOI: 10.1007/s12328-020-01238-w AbstractJuvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT) are both relatively rare hereditary disorders. Some patients with the SMAD4 gene mutation develop both JPS and HHT, a condition termed JPS-HHT. We herein report

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Embolization of Acquired Pulmonary Arteriovenous Malformations Resulting from Metastatic Gestational Trophoblastic Neoplasia

Gretchen A. Ferber, Sarah Khoncarly, James J. Buchino, Janice D. McDanielUniversity of Pittsburgh Medical Center. Case Western Reserve University MetroHealth Medical Center. Cleveland Clinic Akron General Hospital. Akron Children’s Hospital.United States Journal of Vascular and Interventional RadiologyJ Vasc Interv Radiol 2020; 31: 1890-1892DOI: 10.1016/j.jvir.2020.01.021 AbstractAbstract Not Available CategoryPulmonary Arteriovenous Malformations Age Focus: Pediatric Pulmonary Vascular Disease

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The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants

Tendaishe T. Mutize, Riaz Y. Seedat, Johannes K. Ploos van Amstel, Johannes J. Mager, Stephen C. Brown, Fekade Gebremariam, Marius J. CoetzeeUniversity of the Free State nd Universitas Academic Hospital. Utrecht University. Shelly Beach Hospital. National Health Laboratory Service.South Africa and Netherlands Molecular Biology ReportsMol Biol Rep 2020; 47: 9967-9972DOI: 10.1007/s11033-020-05985-4 AbstractHereditary haemorrhagic telangiectasia (HHT) is

The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants Read More »

A rare cause of newborn central cyanosis

Anna Waldoch, Robert Sabiniewicz, Joanna KwiatkowskaMedical University in Gdansk.Poland EchocardiographyEchocardiography 2020; 37: 1524-1525DOI: 10.1111/echo.14809 AbstractPulmonary arteriovenous malformations are rare congenital vascular anomalies. They are usually associated with congenital hemorrhagic hemangioma. The hemodynamic effect of fistulas depends on their size, as well as the location. The most common manifestations include central cyanosis, ischemic stroke, murmur over the

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Congenital portosystemic shunts: diagnosis and treatment

Stéphanie Franchi-Abella, Emmanuel Gonzales, Oanez Ackermann, Sophie Banchereau, Daniéle Pariente, Florent Guérin, International Registry of Congenital Poertosystemic Shunt MembersHôpital Bicêtre, Hôpitaux Universitaire Paris-Sud and Assistance Publique Hôpitaux de Paris. National Reference Centre for Rare Pediatric Liver Diseases and Filfoie. University Paris -Sud. France Abdominal RadiologyAbd Radiol 2018; 43: 2023-2036DOI: 10.1007/s00261-018-1619-8 AbstractCongenital portosystemic shunts (CPSS) are rare

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Transcatheter Hepatic Conduit-Azygous Vein Connection Reduces Pulmonary Arteriovenous Malformations in a Cyanotic Fontan Patient

Kanishka Ratnayaka, Zhenglun A. Wei, Justin R. Ryan, Caitlin M. Heyden, Hari K. Narayan, Timothy C. Slesnick, Robert J. Lederman, John W. Moore, Ajit P. Yoganathan, Howaida G. El-SaidRady Children’s Hospital and University of California-San Diego. National Heart, Lung, and Blood Institute. University of Massachusetts Lowell. Children’s Healthcare of Atlanta, Georgia Institute of Technology and

Transcatheter Hepatic Conduit-Azygous Vein Connection Reduces Pulmonary Arteriovenous Malformations in a Cyanotic Fontan Patient Read More »

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