{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:31:03Z","timestamp":1790775063523,"version":"4.1.0"},"reference-count":156,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2023,7,5]],"date-time":"2023-07-05T00:00:00Z","timestamp":1688515200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene (FBN1). Cardinal clinical phenotypes of MFS are highly variable in terms of severity, and commonly involve cardiovascular, ocular, and musculoskeletal systems with a wide range of manifestations, such as ascending aorta aneurysms and dissection, mitral valve prolapse, ectopia lentis and long bone overgrowth, respectively. Of note, an accurate and prompt diagnosis is pivotal in order to provide the best treatment to the patients as early as possible. To date, the diagnosis of the syndrome has relied upon a systemic score calculation as well as DNA mutation identification. The aim of this review is to summarize the latest MFS evidence regarding the definition, differences and similarities with other connective tissue pathologies with severe systemic phenotypes (e.g., Autosomal dominant Weill\u2013Marchesani syndrome, Loeys\u2013Dietz syndrome, Ehlers\u2013Danlos syndrome) and clinical assessment. In this regard, the management of MFS requires a multidisciplinary team in order to accurately control the evolution of the most severe and potentially life-threatening complications. Based on recent findings in the literature and our clinical experience, we propose a multidisciplinary approach involving specialists in different clinical fields (i.e., cardiologists, surgeons, ophthalmologists, orthopedics, pneumologists, neurologists, endocrinologists, geneticists, and psychologists) to comprehensively characterize, treat, and manage MFS patients with a personalized medicine approach.<\/jats:p>","DOI":"10.3390\/diagnostics13132284","type":"journal-article","created":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T00:41:27Z","timestamp":1688604087000},"page":"2284","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies"],"prefix":"10.3390","volume":"13","author":[{"given":"Susan","family":"Marelli","sequence":"first","affiliation":[{"name":"Cardiovascular-Genetic Center, IRCCS Policlinico San Donato, 20097 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8298-7800","authenticated-orcid":false,"given":"Emanuele","family":"Micaglio","sequence":"additional","affiliation":[{"name":"Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato, 20097 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacopo","family":"Taurino","sequence":"additional","affiliation":[{"name":"Cardiovascular-Genetic Center, IRCCS Policlinico San Donato, 20097 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Salvi","sequence":"additional","affiliation":[{"name":"Istituto Auxologico Italiano, Cardiology Unit, IRCCS, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Rurali","sequence":"additional","affiliation":[{"name":"Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4758-6040","authenticated-orcid":false,"given":"Gianluca L.","family":"Perrucci","sequence":"additional","affiliation":[{"name":"Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3060-4097","authenticated-orcid":false,"given":"Claudia","family":"Dolci","sequence":"additional","affiliation":[{"name":"Laboratory of Functional Anatomy of the Stomatognathic System (LAFAS), Department of Biomedical Sciences for Health, Universit\u00e0 degli Studi di Milano, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathasha Samali","family":"Udugampolage","sequence":"additional","affiliation":[{"name":"Cardiovascular-Genetic Center, IRCCS Policlinico San Donato, 20097 Milan, 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Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9286-1825","authenticated-orcid":false,"given":"Edward","family":"Callus","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences for Health, University of Milan, 20133 Milan, Italy"},{"name":"Clinical Psychology Service, IRCCS Policlinico San Donato, 20097 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Frigiola","sequence":"additional","affiliation":[{"name":"Department of Congenital Cardiac Surgery, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy"},{"name":"Association \u201cBambini Cardiopatici nel Mondo\u201d Non-Governmental Organization (NGO), 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9945-0057","authenticated-orcid":false,"given":"Carlo","family":"De Vincentiis","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic, Vascular Anaesthesia and Intensive Care, IRCCS Policlinico San Donato, 20097 Milan, Italy"},{"name":"Department of Cardiac Surgery, IRCCS Policlinico San Donato, 20097 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Pappone","sequence":"additional","affiliation":[{"name":"Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato, 20097 Milan, Italy"},{"name":"Institute of Molecular and Translational Cardiology, IRCCS Policlinico San Donato, 20097 Milan, Italy"},{"name":"Faculty of Medicine and Surgery, Vita-Salute San Raffaele University, 20132 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9402-7439","authenticated-orcid":false,"given":"Gianfranco","family":"Parati","sequence":"additional","affiliation":[{"name":"Istituto Auxologico Italiano, Cardiology Unit, IRCCS, 20133 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