Marfan Syndrome Score Review

A 35-year-old female with tall stature, mild scoliosis (1 pt), myopia -4 diopters (1 pt), and two of the five facial features (0 pts – needs three). Her score is 2 . She does not have Marfan syndrome. But she has aortic root dilation (Z-score 2.5). Now the score becomes critical: Without a score of 7, she needs ectopia lentis or a family history. She has neither. Diagnosis? Likely a FBN1 related condition (MASS phenotype) – different prognosis, different management.