A 19-year-old male, 6'4" with a wingspan of 6'10". Pectus carinatum (2 pts), wrist+thumb sign (3 pts), flat feet with hindfoot valgus (2 pts), and spontaneous pneumothorax last year (2 pts). Total = 9. Even with a normal echocardiogram, this patient meets the threshold for “Systemic Score positive” and triggers genetic testing and annual aortic monitoring.

The diagnosis of Marfan syndrome is confirmed if one of the following is met in the : Aortic Z-score ≥is greater than or equal to 2 AND Ectopia lentis Aortic Z-score ≥is greater than or equal to 2 AND FBN1 mutation Aortic Z-score ≥is greater than or equal to 2 AND Systemic score ≥is greater than or equal to 7