Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E et al (2020) Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Ann Int Med 173(12):989–1001

Article  PubMed  Google Scholar 

Wain KE, Ellingson MS, McDonald J, Gammon A, Roberts M, Pichurin P et al (2014) Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. Genet Med 16(8):588–593

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cao K, Plazzer JP, Macrae F (2023) SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome. Hered Cancer Clin Pract 21:27. https://doi.org/10.1186/s13053-023-00267-z. (Website [Internet])

Article  CAS  PubMed  PubMed Central  Google Scholar 

Duan XY, Guo DC, Regalado ES, Shen H, Coselli JS, Estrera AL et al (2019) SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections. Eur J Hum Genet 27(7):1054–1060

Article  PubMed  PubMed Central  Google Scholar 

Cao K, Plazzer JP, Macrae F (2023) SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome. Hered Cancer Clin Pract 21(1):27

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vorselaars VMM, Diederik A, Prabhudesai V, Velthuis S, Vos JA, Snijder RJ et al (2017) SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia. Int J Cardiol 245:114–118

Article  CAS  PubMed  Google Scholar 

Heald B, Rigelsky C, Moran R, LaGuardia L, O’Malley M, Burke CA et al (2015) Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. Am J Med Genet A 167A(8):1758–1762

Article  PubMed  Google Scholar 

Jelsig AM, Kjeldsen A, Christensen LL, Bertelsen B, Karstensen JG, Brusgaard K et al (2023) Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in a nationwide study. J Med Genet 60(5):464–468

Article  CAS  PubMed  Google Scholar 

McDonald NM, Ramos GP, Sweetser S (2020) SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience. Int J Colorectal Dis 35(10):1963–1965

Article  PubMed  Google Scholar 

Grasty MA, Mavroudis CD, DeWitt AG, Kozyak BW, Mamula P, MacFarland SP et al (2023) Hereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease. Cardiol Young 33(12):2667–2669

Article  PubMed  Google Scholar 

Bishop JC, Britton JF, Murphy AM, Sule S, Mitchell S, Takemoto C et al (2018) Juvenile idiopathic arthritis associated with combined JP-HHT syndrome: a novel phenotype associated with a novel variant in. J Pediatr Genet 7(2):78–82

Article  CAS  PubMed  Google Scholar 

Andrabi S, Bekheirnia MR, Robbins-Furman P, Lewis RA, Prior TW, Potocki L (2011) SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A 155A(5):1165–1169

Article  PubMed  Google Scholar 

Teekakirikul P, Milewicz DM, Miller DT, Lacro RV, Regalado ES, Rosales AM et al (2013) Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A 161A(1):185–191

Article  PubMed  Google Scholar 

Tao MY, Wang KY, Li X, Yu C, Wan QS, Shu X et al (2022) Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report. Therap Adv Gastroenterol 15:17562848221142912

Article  PubMed  PubMed Central  Google Scholar 

Inoguchi Y, Kaku B, Kitagawa N, Katsuda S (2019) Hereditary Hemorrhagic telangiectasia with SMAD4 mutations is associated with fatty degeneration of the left ventricle, coronary artery aneurysm, and abdominal aortic aneurysm. Int Med 58(3):387–393

Article  Google Scholar 

Schwenter F, Faughnan ME, Gradinger AB, Berk T, Gryfe R, Pollett A et al (2012) Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation. J Gastroenterol 47(7):795–804

Article  CAS  PubMed  Google Scholar 

Jelsig AM, Tørring PM, Kjeldsen AD, Qvist N, Bojesen A, Jensen UB et al (2016) JP-HHT phenotype in Danish patients with SMAD4 mutations. Clin Genet 90(1):55–62

Article  CAS  PubMed  Google Scholar 

Guan E, Braslavsky A, Vazquez C, Besada CH, Pérez Akly MS, Peralta O et al (2024) De novo brain vascular malformation in an adult with hereditary hemorrhagic telangiectasia and juvenile polyposis overlap syndrome. J Stroke Cerebrovasc Dis 33(6):107726

Article  PubMed  Google Scholar 

Leonard NB, Bronner MP (2021) Giant gastric folds in juvenile polyposis. Case Rep Gastroenterol 15(3):985–993

Article  PubMed  PubMed Central  Google Scholar 

Kananazawa Y, Yamada T, Yamaguchi T, Saito Y, Kakinuma D, Masuda Y et al (2023) A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Jpn J Clin Oncol 53(3):275–279

Article  PubMed  Google Scholar 

Ferreira de Moura T, Servettaz A, Henry A, Arndt C, Denoyer A (2023) Roth spots in a Rendu-Osler-Weber syndrome. Retin Cases Brief Rep [Internet]. https://doi.org/10.1097/ICB.0000000000001479

Hashimoto Y, Yokoyama K, Kumagai H, Okada Y, Yamagata T (2020) Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl. Clin J Gastroenterol 13(6):1096–1101

Article  PubMed  Google Scholar 

Kang B, Hwang SK, Choi S, Kim ES, Lee SY, Ki CS et al (2021) Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the gene. Transl Pediatr 10(5):1369–1376

Article  PubMed  PubMed Central  Google Scholar 

Mrzljak A, Popić J, Ožanić BS (2021) Digital clubbing in hereditary hemorrhagic telangiectasia/juvenile polyposis syndrome. Acta Dermatovenerol Croat 291(1):56–57

PubMed  Google Scholar 

Lin HC, Fiorino KN, Blick C, Anupindi SA (2015) A rare presentation and diagnosis of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia overlap syndrome. Clin Imaging 39(2):321–324

Article  PubMed  Google Scholar 

Iyer NK, Burke CA, Leach BH, Parambil JG (2010) SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. Thorax 65(8):745–746

Article  PubMed  Google Scholar 

Johansson J, Sahin C, Pestoff R, Ignatova S, Forsberg P, Edsjö A et al (2015) A novel SMAD4 mutation causing severe juvenile polyposis syndrome with protein losing enteropathy, immunodeficiency, and hereditary haemorrhagic telangiectasia. Case Rep Gastrointest Med 2015:140616

PubMed  PubMed Central  Google Scholar 

de Leon MP, Pedroni M, Viel A, Luppi C, Conigliaro R, Domati F et al (2019) Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation. Fam Cancer 18(2):165–172

Article  PubMed  Google Scholar 

Schwenter F, Ratjen F, Berk T, Gallinger S, Gryfe R, Gradinger AB et al (2012) Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. J Pediatr Gastroenterol Nutr 54(1):120–122

Article  PubMed  Google Scholar 

Dal Buono A, Poliani L, Repici A, Hassan C, Bianchi P (2022) An unexpected anemia hiding a rare syndrome with overlapping phenotypes. ACG Case Rep J 9(11):e00926

Article  Google Scholar 

Chang W, Renaut P, Pretorius C (2020) SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history. BMJ Case Rep [Internet]. https://doi.org/10.1136/bcr-2020-236855

Bernshteyn M, Bhutta AQ, Bordas J, Mehta R, Arif MO (2022) A rare case of juvenile polyposis syndrome mimicking Ménétrier’s disease. Cureus 14(3):e23389

PubMed  PubMed Central  Google Scholar 

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet [Internet] [cited 2024 Jan 24]. https://pubmed.ncbi.nlm.nih.gov/10751092/

Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW et al (2022) An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A 188(10):3084–3088

Article  CAS  PubMed  Google Scholar 

Guevara E, Bagnati R, Bastianelli G, Baratta S, Battu C, Bluro I (2023) y cols. Consenso de Patología de la Aorta. Rev Argent Cardiol 91