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

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

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

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

Congenital portosystemic shunts: diagnosis and treatment Read More »

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 »

Pulmonary Complications in Patients With Fontan Circulation: JACC Review Topic of the Week

Ali Abdulkarim, Shawn Shaji, Mahmud Elfituri, Megan Gunsaulus, Muhammad A. Zafar, Ali N. Zaidi, Robert H. Pass, Brian Feingold, Geoffrey Kurland, Jacqueline Kreutzer, Rod Ghassemzadeh, Bryan Goldstein, Shawn West, Tarek AlsaiedIcahn School of Medicine at Mount Sinai. University of Pittsburgh Medical Center, Children’s Hospital of Pittsburgh and University of Pittsburgh School of Medicine. University of

Pulmonary Complications in Patients With Fontan Circulation: JACC Review Topic of the Week Read More »

Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia

Mordechai Pollak, Dvir Gatt, Michelle Shaw, Sheryl L. Hewko, Anthony Lamanna, Sara Santos, Felix RatjenHospital for Sick Children. Ruth Rappaport Children’s Hospital. Canada and Israel Journal of PediatricsJ Pediatr 2023; DOI: 10.1016/j.jpeds.2023.113665 AbstractObjective: To assess the utility of the Curaçao criteria by age over time in children with hereditary hemorrhagic telangiectasia (HHT).Study design: This was a single-center, retrospective

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A Congenital Portosystemic Shunt in a Child With Heterotaxy, Situs Inversus, Polysplenia, and Interrupted Inferior Vena Cava With Azygous Continuation

Victoria Carvajal, Saigopala Reddy, Vani Gopalareddy, Adrienne Bean, Gonzalo WallisLevine Children’s Hospital. University of North Carolina Chapel Hill Medical School. United States American College of Gastroenterology Case Reports JournalACG Case Rep J 2023; DOI: 10.14309/crj.0000000000001201 AbstractCongenital portosystemic shunts are rare vascular malformations in which portal venous blood from the intestines and spleen bypasses the liver and

A Congenital Portosystemic Shunt in a Child With Heterotaxy, Situs Inversus, Polysplenia, and Interrupted Inferior Vena Cava With Azygous Continuation Read More »

Pulmonary hypertension associated with vein of Galen malformation. Fetal cardiac hemodynamic findings and physiological considerations

Ana Mendez, Elisabeth Codsi, Francisco Gonzalez Barlatay, Anie Lapointe, Marie-Josée RaboissonUniversity of Montreal, Sainte-Justine University Hospital Center. Hospital Virgen del Rocío. Canada and Spain Journal of PerinatologyJ Perinatol 2022; 42: 143-148DOI: 10.1038/s41372-021-01297-y AbstractThe management of newborns with vein of Galen aneurysmal malformation (VGAM) is clinically challenging for neonatologists and cardiologists. Hemodynamic profiles in four fetuses diagnosed

Pulmonary hypertension associated with vein of Galen malformation. Fetal cardiac hemodynamic findings and physiological considerations Read More »

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