The most common mutation type in MFS is missense, of which the ones involving a cysteine amino acid appear most frequently. #ROLAND KULLO PROFESSIONAL#To date more than 3000 genetic variants of the FBN1 gene have been reported (HGMD Professional 2020.3). MFS is caused by a mutation of the FBN1 gene located on the long arm of chromosome 15. In this review we paid special attention to the rapidly expanding field of genotype–phenotype correlations for aortic features as by collecting and presenting the ever growing number of correlations, future perspectives for risk stratification can be outlined. genetic testing) and imaging techniques to serve as biomarkers of severe aortic involvement. These differences originating from the underlying common molecular pathological processes can be assessed by laboratory (e.g. The aim of this review is to present the current knowledge on the possible predictors of severe cardiovascular manifestations in MFS patients, demonstrating the wide range of molecular and radiological differences between people with MFS and healthy individuals, and more importantly between MFS patients with and without advanced aortic manifestations. The indication criteria for the prophylactic procedure is currently based on aortic diameter, however aortic dissections below the threshold defined in the guidelines have been reported, highlighting the need for a more accurate risk stratification system to predict the occurrence of aortic complications. The Creative Commons Public Domain Dedication waiver ( ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. J.Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. Urabe, Jotaro Veldkamp, Tom Verburg, Peter H. Seufert, Verena Shibata, Hideaki Thomson, Allison Turner II, Billie L. Ramankutty, Navin Reenberg, Anette Roy Chowdhury, Rinku Seto, Karen C. Parker, Dawn Cassandra Pascual, Unai Porter, John R. Nagendra, Harini Nielsen, Jonas Østergaard Ojima, Dennis S. Lavorel, Sandra Lele, Sharachandra Mertz, Ole Messerli, Peter Metternicht, Graciela Munroe, Darla K. Kerr, Suzi Kuemmerle, Tobias Lambin, Eric F. Morgan Haberl, Helmut Heinimann, Andreas Hostert, Patrick Jobbágy, Esteban G. Archer, Emma Aspinall, Richard Chhabra, Abha Camara, Gilberto Corbera, Esteve DeFries, Ruth S. Ten facts about land systems for sustainability Meyfroidt, Patrick de Bremond, Ariane Ryan, Casey M. 2022 Articles Medical care-Mathematical models COVID-19 (Disease) COVID-19 (Disease)-Social aspects Rivera, Marcela Seinen, Tom Shoaibi, Azza Spotnitz, Matthew E. Prats-Uribe, Albert Pratt, Nicole Rao, Gowtham Reich, Christian G. Morales, Daniel Nyberg, Fredrik Park, Rae W. Kostka, Kristin Liaw, Siaw-Teng Lynch, Kristine E. Fernández-Bertolín, Sergio Hripcsak, George Kaas-Hansen, Benjamin S. Aragón, María Areia, Carlos Burn, Edward Choi, Young H. Falconer, Thomas Jonnagaddala, Jitendra Kim, Chungsoo Rho, Yeunsook Williams, Andrew E. Yang, Cynthia Duarte-Salles, Talita DuVall, Scott L. Seek COVER: using a disease proxy to rapidly develop and validate a personalized risk calculator for COVID-19 outcomes in an international network Williams, Ross D.
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