Fig. 4From: Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvementRecommended screening algorithm. People with suspected Marfan syndrome should undergo genetic screening. We recommend the use of a gene panel, followed by MLPA in negative cases. When HI or DN Cys mutations are identified, closer follow-up and earlier prophylactic surgery should be considered. DN non-Cys sequence variants should be managed as stated in the current ESC guidelines. When a (likely) pathogenic variant is detected in a gene other than the FBN1, then appropriate management of the identified disease/syndrome needs to be carried out. The management of people without a detected mutation should be based on the clinical presentation, mostly focusing on aortic involvementBack to article page