Pulmonary Arteriovenous Malformations

Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies

Jinrong Liu, Xiaomin Duan, Jie Yin, Haiming Yang, Ruxuan He, Shunying ZhaoBeijing Children’s Hospital, National Center for Children’s Health and Capital Medical University.China Orphanet Journal of Rare DiseasesOrphanet J Rare Dis 2023; 18:DOI: 10.1186/s13023-023-02732-3 AbstractPulmonary arteriovenous malformations (PAVMs), particularly where feeding artery/arteries to PAVMs ≥ 3 mm can be treated with embolization. The treatment for hypoxemia

Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies Read More »

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 »

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

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

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

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

Hepatopulmonary Syndrome and Multiple Arteriovenous Fistulas in a Child with Niemann-Pick Disease

Zeynep Reyhan Onay, Tugba Ramasli Gursoy, Ayse Tana Aslan, Tugba Sismanlar Eyuboglu, Koray AkkanGazi University. Turkey Pediatric Allergy Immunology and PulmonologyPediatr Allergy Immunol Pulmonol 2021; 34: 30-32DOI: 10.1089/ped.2020.1244 AbstractBackground: Niemann-Pick disease (NPD) is caused by abnormal storage of sphingomyelin. NPD may affect the pulmonary system and cause hypoxia. In the present case, both hepatopulmonary syndrome (HPS) and

Hepatopulmonary Syndrome and Multiple Arteriovenous Fistulas in a Child with Niemann-Pick Disease Read More »

sVEGFR1 Is Enriched in Hepatic Vein Blood-Evidence for a Provisional Hepatic Factor Candidate?

Andrew D. Spearman, Ankan Gupta, Amy Y. Pan, Todd M. Gudausky, Susan R. Foerster, G. Ganesh Konduri, Ramani RamchandranMedical College of Wisconsin and Children’s Wisconsin. United States Frontiers in PediatricsFront Pediatr 2021; 9: DOI: 10.3389/fped.2021.679572 AbstractBackground: Pulmonary arteriovenous malformations (PAVMs) are common sequelae of palliated univentricular congenital heart disease, yet their pathogenesis remain poorly defined. In this

sVEGFR1 Is Enriched in Hepatic Vein Blood-Evidence for a Provisional Hepatic Factor Candidate? Read More »

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi and Tohru YorifujiChildren’s Medical Center and Osaka City General Hospital. The University of Tokyo. National Cerebral and Cardiovascular Center. Sakakibara Heart Institute. Yokohama City University Graduate School of Medicine. Japan BioMed Central Medical

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia Read More »

Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review

Ali Alakhfash, Abdullah Alqwaiee, Abdulrahman Almesned, Zuhair N. Al-HassnanPrince Sultan cardiac Center-Qassim. Sapienza Università di Roma. King Faisal Specialist Hospital & Research Centre. Saudi Arabia and Italy European Heart Journal Case ReportsEur Heart J Case Rep 2021; 22: DOI: 10.1093/ehjcr/ytab261 AbstractBackground: Pulmonary arteriovenous malformations (PAVMs) are rare pulmonary vascular anomalies. They can result in right-to-left shunt and,

Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review Read More »

Pulmonary arterial hypertension associated with pulmonary arteriovenous malformations and pulmonary veno-occlusive disease: A devastating combination

Baukje M. Zaaijera, Nienke Duppena, Brigitte W. M. Willemseb, Martijn V. Verhagenc, Marcus T. R. Roofthoofta, WimT imensd, Rolf M. F. Bergera, Johannes M. DouwesUniversity of Groningen, University Medical Center Groningen, Beatrix Children’s Hospital.Netherlands Respiratory Medicine Case ReportsRespir Med Case Rep 2021; 34: DOI: 10.1016/j.rmcr.2021.101564 AbstractWe describe a case of an adolescent male with the rare

Pulmonary arterial hypertension associated with pulmonary arteriovenous malformations and pulmonary veno-occlusive disease: A devastating combination Read More »

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