Genotype-aortic phenotype correlations in Marfan syndrome: a systematic review and meta-analysis of Fibrillin-1 variants

We found significant genotype-aortic phenotype correlations among <i>FBN1</i> variant classes. Specifically, HI and cysteine-involving variants present the greatest risk and exhibit larger baseline aortic root diameters. Splicing variants, while traditionally grouped under the HI class, demonstrated an aortic risk more comparable to that of missense mutations. In the era of precision medicine, these findings empower clinicians to move beyond one-size-fits-all criteria and tailor monitoring intervals and elective repair decisions according to patient genetic profiles.