{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T06:57:18Z","timestamp":1769151438743,"version":"3.49.0"},"reference-count":28,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T00:00:00Z","timestamp":1623110400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The authors wish to acknowledge the financial support of the Catholic Medical Center Research Foundation made in 2021","award":["Not applicable"],"award-info":[{"award-number":["Not applicable"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>The major cause of death in Marfan syndrome (MFS) is cardiovascular complications, particularly progressive dilatation of the proximal aorta, rendering these patients at risk of aortic dissection or fatal rupture. We report a 3D printed personalized external aortic root model for MFS with an isolated sinus of Valsalva aneurysm caused by a novel pathogenic FBN1 variant. A 67-year-old female with a history of lens dislocation and retinal detachment in the left eye was admitted for the evaluation of resting dyspnea several months prior. Transesophageal and transthoracic echocardiography revealed severe aortic valve regurgitation and a large left coronary sinus of Valsalva aneurysm in the proband. Sanger sequencing identified a heterozygous p.Gly1127Cys variant in the FBN1 gene; previously, a mutation at this amino acid position was described as pathogenic (p.Gly1127Ser; rs137854468). A 3D printed personalized external aortic root model based on a multidetector computed tomography scan was constructed to illustrate the location of the ostium of the left main coronary artery on the aneurysm of the left coronary artery cusp. Aortic root replacement with the Bentall procedure matched the exact shape of the 3D printed model. Creation of a 3D printed patient-specific model could be useful in facilitating the development of next-generation medical devices and resolving the risks of postoperative complications and aortic root disease.<\/jats:p>","DOI":"10.3390\/diagnostics11061057","type":"journal-article","created":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T12:08:55Z","timestamp":1623154135000},"page":"1057","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["3D Printed Personalized External Aortic Root Model in Marfan Syndrome with Isolated Sinus of Valsalva Aneurysm Caused by a Novel Pathogenic FBN1 p.Gly1127Cys Variant"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0308-0021","authenticated-orcid":false,"given":"Jung Sun","family":"Cho","sequence":"first","affiliation":[{"name":"Department of Cardiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7354-4234","authenticated-orcid":false,"given":"Joonhong","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong Bum","family":"Kwon","sequence":"additional","affiliation":[{"name":"Department of Thoracic and Cardiovascular Surgery, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dae-Won","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Cardiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahn-Won","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Cardiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,8]]},"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. 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