{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,14]],"date-time":"2026-06-14T06:59:18Z","timestamp":1781420358295,"version":"3.54.1"},"reference-count":21,"publisher":"Japanese Society of Internal Medicine","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2019,2,1]]},"DOI":"10.2169\/internalmedicine.1287-18","type":"journal-article","created":{"date-parts":[[2018,9,11]],"date-time":"2018-09-11T18:22:05Z","timestamp":1536690125000},"page":"387-393","source":"Crossref","is-referenced-by-count":8,"title":["Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm"],"prefix":"10.2169","volume":"58","author":[{"given":"Yasunori","family":"Inoguchi","sequence":"first","affiliation":[{"name":"Division of Cardiovascular Medicine, Toyama Red Cross Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bunji","family":"Kaku","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Toyama Red Cross Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naotaka","family":"Kitagawa","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Toyama Red Cross Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoji","family":"Katsuda","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Toyama Red Cross Hospital, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Marchuk DA, Guttmacher AE, Penner JA, et al. Report on the workshop on hereditary hemorrhagic telangiectasia, July 10-11, 1997. Am J Med Genet 76: 269-273, 1998.","DOI":"10.1002\/(SICI)1096-8628(19980319)76:3<269::AID-AJMG12>3.0.CO;2-F"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. McDonald J, Wooderchak-Donahue W, Webb CV, et al. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet 6: 1, 2015.","DOI":"10.3389\/fgene.2015.00001"},{"key":"3","doi-asserted-by":"publisher","unstructured":"3. Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 363: 852-859, 2004.","DOI":"10.1016\/S0140-6736(04)15732-2"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J of Med Genet 91: 66-67, 2000.","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 17: 860-871, 2009.","DOI":"10.1038\/ejhg.2009.35"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 8: 345-351, 1994.","DOI":"10.1038\/ng1294-345"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 13: 189-195, 1996.","DOI":"10.1038\/ng0696-189"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Goumans MJ, Liu Z, Dijke PT, et al. TGF-\u03b2 signaling in vascular biology and dysfunction. Cell Res 19: 116-127, 2009.","DOI":"10.1038\/cr.2008.326"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Gallione C, Aylsworth AS, Beis J, et al. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A 152A: 333-339, 2010.","DOI":"10.1002\/ajmg.a.33206"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Gallione CJ, Richards JA, Letteboer TGW, et al. SMAD4 mutations found in unselected HHT patients. J Med Genet 43: 793-797, 2006.","DOI":"10.1136\/jmg.2006.041517"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Teekakirikul P, Milewicz DM, Miller DT, et al. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A 161A: 185-191, 2013.","DOI":"10.1002\/ajmg.a.35659"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Heald B, Rigelsky C, Moran R, et al. Prevalence of thoracic aortopathy in patients with juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia due to SMAD4. Am J Med Genet A 167A: 1758-1762, 2015.","DOI":"10.1002\/ajmg.a.37093"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Andrabi S, Bekheirnia MR, Patricia Robbins-Furman, et al. SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J of Med Genet A 155A: 1165-1169, 2011.","DOI":"10.1002\/ajmg.a.33968"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Wain KE, Ellingson MS, McDonald J, et al. Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart view. Genet Med 16: 588-593, 2014.","DOI":"10.1038\/gim.2014.5"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Vorselaars VMM, Velthuis S, Snijder RJ, et al. Pulmonary hypertension in hereditary haemorrhagic telangiectasia. World J Cardiol 7: 230-237, 2015.","DOI":"10.4330\/wjc.v7.i5.230"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Mieghem CAGV, Ligthart JMR, Cademartiri F. Spontaneous dissection of the left main coronary artery in a patient with Osler Weber Rendu disease. Heart 92: 394, 2006.","DOI":"10.1136\/hrt.2005.074013"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. His DH, Ryan GF, Hellems SO, et al. Large aneurysms of the ascending aorta and major coronary arteries in a patient with hereditary hemorrhagic telangiectasia. Mayo Clin Proc 78: 774-776, 2003.","DOI":"10.4065\/78.6.774"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Dittus C, Streiff M, Ansell J. Bleeding and clotting in hereditary hemorrhagic telangiectasia. World J Clin Cases 3: 330-337, 2015.","DOI":"10.12998\/wjcc.v3.i4.330"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Liu G, Ma C, Yang H, et al. Transforming growth factor \u03b2 and its role in heart disease. Exp Ther Med 13: 2123-2128, 2017.","DOI":"10.3892\/etm.2017.4246"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Pepe G, Giusti B, Sticchi E, et al. Marfan syndrome: current perspectives. Appl Clin Genet 9: 55-65, 2016.","DOI":"10.2147\/TACG.S96233"},{"key":"21","unstructured":"21. Sumitomo Y, Yamashita Y, Itai R, et al. A case of combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with SMAD4 mutation. Nihon Shokakibyo Gakkai Zasshi (Jpn J Gastroenterol) 110: 64-73, 2013 (in Japanese, Abstract in English)."}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/58\/3\/58_1287-18\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,23]],"date-time":"2019-10-23T22:34:27Z","timestamp":1571870067000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/58\/3\/58_1287-18\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,1]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.1287-18","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,1]]}}}