Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies
Susan Marelli, Emanuele Micaglio, Jacopo Taurino, Paolo Salvi, Erica Rurali, Gianluca Lorenzo Perrucci, Claudia Dolci, Nathasha Samali Udugampolage, Rosario Caruso, Davide Gentilini, Giuliana Trifirò, Edward Callus, Alessandro Frigiola, Carlo De Vincentiis, Carlo Pappone, Gianfranco Parati, Alessandro Pini
Abstract
). 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-Marchesani syndrome, Loeys-Dietz syndrome, Ehlers-Danlos 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.