{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:19:48Z","timestamp":1760239188091,"version":"build-2065373602"},"reference-count":28,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T00:00:00Z","timestamp":1601251200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Marfan\u2019s syndrome (MFS) seems to be frequently associated with colonic diverticulosis, but the prevalence of diverticula and symptoms evocative of diverticular disease in this population are still unknown. Methods: This prospective case control study included 90 consecutive patients with MFS, 90 unselected controls, and 90 asymptomatic subjects. The clinical characteristics, including lower gastrointestinal symptoms, and ultrasonographic features of the bowel, including diverticula and thickening of the muscularis propria of the sigmoid colon, were investigated. In addition, the genotype of MFS patients was assessed. The characteristics of patients and controls were compared using parametric tests. Results: Complaints of abdominal symptoms were made by 23 (25.6%) patients with MFS and 48 (53%) control subjects (p &lt; 0.01). Constipation and bloating were reported less frequently by MFS patients than controls (constipation: 13.3% vs. 26.6%, p = 0.039; bloating: 3.3% vs. 41.1%, p &lt; 0.0001), while other symptoms were not significantly different. Sigmoid diverticulosis was detected in 12 (12.3%) patients with MFS, as well as in 3 (3.3%) asymptomatic healthy subjects and 4 (4.4%) random controls (p = 0.0310). The genetic variants of MFS were not correlated with symptoms or diverticula. Conclusion: Patients with MFS have a greater prevalence of diverticula, although less abdominal symptoms, compared to the general population. Symptoms and diverticula in MFS are not correlated with any genetic variant.<\/jats:p>","DOI":"10.3390\/jcm9103141","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T20:03:02Z","timestamp":1601323382000},"page":"3141","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Abdominal Symptoms and Colonic Diverticula in Marfan\u2019s Syndrome: A Clinical and Ultrasonographic Case Control Study"],"prefix":"10.3390","volume":"9","author":[{"given":"Giovanni","family":"Maconi","sequence":"first","affiliation":[{"name":"Gastroenterology Unit, Department of Biomedical and Clinical Sciences, ASST Fatebenefratelli-Sacco, University of Milan, 20157 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Pini","sequence":"additional","affiliation":[{"name":"Cardiovascular-Genetic Center, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elia","family":"Pasqualone","sequence":"additional","affiliation":[{"name":"Gastroenterology Unit, Department of Biomedical and Clinical Sciences, ASST Fatebenefratelli-Sacco, University of Milan, 20157 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandro","family":"Ardizzone","sequence":"additional","affiliation":[{"name":"Gastroenterology Unit, Department of Biomedical and Clinical Sciences, ASST Fatebenefratelli-Sacco, University of Milan, 20157 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0237-1812","authenticated-orcid":false,"given":"Gabrio","family":"Bassotti","sequence":"additional","affiliation":[{"name":"Gastroenterology &amp; Hepatology Section, Department of Medicine, University of Perugia Medical School, 06122 Perugia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13023-015-0369-8","article-title":"Prevalence, incidence, and age at diagnosis in Marfan Syndrome","volume":"10","author":"Groth","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Piha-Gossack, A., Sossin, W., and Reinhardt, D.P. (2012). The evolution of extracellular fibrillins and their functional domains. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0033560"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.semcdb.2018.07.016","article-title":"Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors","volume":"89","author":"Thomson","year":"2019","journal-title":"Semin. Cell Dev. Biol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1097\/00004836-198508000-00007","article-title":"Malabsorption in Marfan (Ehlers-Danlos) Syndrome","volume":"7","author":"McLean","year":"1985","journal-title":"J. Clin. Gastroenterol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1001\/archinte.1984.00350130235048","article-title":"Diverticulosis coli in association with Marfan\u2019s Syndrome","volume":"144","author":"Suster","year":"1984","journal-title":"Arch. Intern. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/bjs.18005021913","article-title":"Visceral diverticula and the Marfan Syndrome","volume":"50","author":"Clunie","year":"1962","journal-title":"Br. J. Surg."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"442","DOI":"10.2484\/rcr.v7i1.442","article-title":"Diverticulitis complicated by fistulous communication of sigmoid colon with anterior sacral meningocele in a patient with Marfan Syndrome","volume":"7","author":"Samet","year":"2015","journal-title":"Radiol. Case Rep."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ijscr.2011.06.003","article-title":"A Rare case of segmental small bowel pneumatosis intestinalis: A case report","volume":"2","author":"Slesser","year":"2011","journal-title":"Int. J. Surg. Case Rep."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"270","DOI":"10.12968\/hmed.2008.69.5.29359","article-title":"General surgical manifestations of Marfan\u2019s Syndrome","volume":"69","author":"Thomas","year":"2008","journal-title":"Br. J. Hosp. Med. (Lond.)"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1007\/s00383-009-2472-1","article-title":"Colonic diverticulitis in adolescents: An index case and associated syndromes","volume":"25","author":"Santin","year":"2009","journal-title":"Pediatr. Surg. Int."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1136\/pgmj.74.874.495","article-title":"multiple gastrointestinal complications in Marfan Syndrome","volume":"74","author":"Eliashar","year":"1998","journal-title":"Postgrad. Med. J."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1007\/s00384-014-1866-2","article-title":"Sigmoid volvulus: Is it related to Marfan Syndrome?","volume":"29","author":"Junpaparp","year":"2014","journal-title":"Int. J. Colorectal Dis."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"485470","DOI":"10.1155\/2018\/4854701","article-title":"Gastrointestinal symptoms in Marfan Syndrome and hypermobile Ehlers-Danlos Syndrome","volume":"2018","author":"Inayet","year":"2018","journal-title":"Gastroenterol. Res. Pract."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1097\/MCG.0000000000001173","article-title":"Prevalence of functional GI diseases and pelvic floor symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A national cohort study","volume":"53","author":"Nee","year":"2019","journal-title":"J. Clin. Gastroenterol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.14309\/crj.2018.5","article-title":"Small bowel diverticulosis and jejunal perforation in Marfan Syndrome","volume":"5","author":"Robey","year":"2018","journal-title":"ACG Case Rep. J."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1055\/s-0030-1255939","article-title":"Incidence and causes of colonoscopic perforations: A single-center case series","volume":"43","author":"Loffeld","year":"2011","journal-title":"Endoscopy"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1177\/2050640614547068","article-title":"Italian consensus conference for colonic diverticulosis and diverticular disease","volume":"2","author":"Cuomo","year":"2014","journal-title":"United Eur. Gastroenterol. J."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s00384-017-2960-z","article-title":"Systematic review and comparison of national and international guidelines on diverticular disease","volume":"33","author":"Galetin","year":"2018","journal-title":"Int. J. Colorectal. Dis."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1055\/s-2002-20075","article-title":"Colonic diverticulosis: A comparison between sonography and endoscopy","volume":"23","author":"Hollerweger","year":"2002","journal-title":"Ultraschall Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1097\/MCG.0000000000000657","article-title":"Intestinal ultrasonography in the diagnosis and management of colonic diverticular disease","volume":"50","author":"Maconi","year":"2016","journal-title":"J. Clin. Gastroenterol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised ghent nosology for the Marfan Syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Gentilini, D., Oliveri, A., Fazia, T., Pini, A., Marelli, S., Bernardinelli, L., and Di Blasio, A.M. (2019). NGS analysis in Marfan Syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis. PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0222506"},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Camerota, L., Ritelli, M., Wischmeijer, A., Majore, S., Cinquina, V., Fortugno, P., Monetta, R., Gigante, L., Sangiuolo, F.C., and Novelli, G. (2019). Genotypic categorization of Loeys-Dietz Syndrome based on 24 novel families and literature data. Genes, 10.","DOI":"10.3390\/genes10100764"},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Beckers, A.B., Keszthelyi, D., Fikree, A., Vork, L., Masclee, A., Farmer, A.D., and Aziz, Q. (2017). Gastrointestinal disorders in joint hypermobility syndrome\/Ehlers-Danlos Syndrome hypermobility type: A review for the gastroenterologist. Neurogastroenterol. Motil., 29.","DOI":"10.1111\/nmo.13013"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/ajmg.c.31431","article-title":"Gastrointestinal and nutritional issues in joint hypermobility syndrome\/Ehlers-Danlos Syndrome, hypermobility type","volume":"169","author":"Castori","year":"2015","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1136\/flgastro-2013-100426","article-title":"Prevalence of functional gastrointestinal disorders among consecutive new patient referrals to a gastroenterology clinic","volume":"5","author":"Shivaji","year":"2014","journal-title":"Frontline Gastroenterol."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Benke, K., \u00c1gg, B., P\u00f3los, M., Sayour, A.A., Radovits, T., Bartha, E., Nagy, P., R\u00e1k\u00f3czi, B., Koller, \u00c1., and Szokolai, V. (2017). The effects of acute and elective cardiac surgery on the anxiety traits of patients with Marfan Syndrome. BMC Psychiatry, 17.","DOI":"10.1186\/s12888-017-1417-9"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1097\/00004703-199006000-00005","article-title":"Marfan Syndrome in adolescents and young adults: Psychosocial functioning and knowledge","volume":"11","author":"Schneider","year":"1990","journal-title":"J. Dev. Behav. Pediatr."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/10\/3141\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:14:38Z","timestamp":1760177678000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/10\/3141"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,28]]},"references-count":28,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2020,10]]}},"alternative-id":["jcm9103141"],"URL":"https:\/\/doi.org\/10.3390\/jcm9103141","relation":{},"ISSN":["2077-0383"],"issn-type":[{"type":"electronic","value":"2077-0383"}],"subject":[],"published":{"date-parts":[[2020,9,28]]}}}