Genetic Factors Associated With Pulmonary Vascular Disease

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 »

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

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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

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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 »

Outcomes in Patients with Alagille Syndrome and Complex Pulmonary Artery Disease

Roger Luong, Jeffrey A. Feinstein, Michael Ma, Noelle H. Ebel, Lisa Wise-Faberowski, Yulin Zhang, Lynn F. Peng, Vamsi V. Yarlagadda, Jennifer Shek, Frank L. Hanley, Doff B. McElhinneyLucille Packard Children’s Hospital Stanford and Stanford University. United States Journal of PediatricsJ Pediatr 2021; 229: 86-94DOI: 10.1016/j.jpeds.2020.09.053 AbstractObjective: To assess outcomes in a large cohort of patients with Alagille

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SOX17 Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension

Rachel Walters, Eleni Vasilaki, Jurjan Aman, Chien-Nien Chen, Yukyee Wu, Olin D. Liang, Ali Ashek, Olivier Dubois, Lin Zhao, Farah Sabrin, Inês Cebola, Jorge Ferrer, Nicholas W. Morrell, James R. Klinger, Martin R. Wilkins, Lan Zhao, Christopher J. RhodesHammersmith Hospital and Imperial College. Amsterdam University Medical Center. Rhode Island Hospital and Warren Alpert Medical School

SOX17 Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension Read More »

Progressive pulmonary vein stenosis in Down syndrome infant: a rare cause of pulmonary hypertension

Norazah Zahari, Joyce Darshinee Dom SirisaniUniversity of Malaya.Malaysia Medical Journal of MalaysiaMed J Malaysia 2018; 73: 119-120DOI: Not available AbstractPulmonary veins stenosis in a Down Syndrome infant with normal connection pulmonary vein is rare and precise incidence of this disease is unknown. We report a case of progressive multiple pulmonary vein stenosis in a Down

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Repair of Total Anomalous Pulmonary Venous Connection: Risk Factors for Postoperative Obstruction

Brian R. White, Deborah Y. Ho, Jennifer A. Faerber, Hannah Katcoff, Andrew C. Glatz, Christopher E. Mascio, Paul Stephens Jr., Meryl S. CohenChildren’s Hospital of Philadelphia.United States Annals of Thoracic SurgeryAnn Thorac Surg 2019; 108: 122-129DOI: 10.1016/j.athoracsur.2019.02.017 AbstractBackground: Pulmonary venous obstruction after repair of total anomalous pulmonary venous connection (TAPVC) results in substantial morbidity and mortality. Risk

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Left hypoplastic lung and hemoptysis-rare familial unilateral pulmonary vein atresia

Ronly Har-Even Cohn, Matthew Hicks, Atilano Lacson, Anne HicksUniversity of Alberta.Canada Clinical Case ReportsClin Case Rep 2020; 8: 1698-1703DOI: 10.1002/ccr3.2982 AbstractUnilateral pulmonary vein atresia (UPVA) is a rare congenital vascular malformation with obliteration of the pulmonary vein. We present a case series of three siblings with variable presentation of UPVA. We suggest a dominant genetic cause based on different paternity.

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