Fig. 2

Proposed clinical management strategy of aortic involvement in Marfan syndrome based on the mutation type. This figure demonstrates a proposed management strategy in MFS patients based on their mutation type, according to the recent findings of genotype–phenotype correlation studies. Based on the results of the reviewed articles, HI and DN Cys variants seem to carry a higher risk for aortic complications than DN non-Cys mutations, therefore they require a more frequent patient follow-up and an earlier prophylactic procedure than DN non-Cys variants. This approach needs to be confirmed by larger, prospective studies before it can be applied within clinical settings. In the figure, blue boxes represent the type of genetic variants, the color red indicates a more severe, while brown shows a less severe aortic involvement. The green boxes demonstrate the proposed management approach.