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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

Fig. 4

Recommended 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 involvement

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