Aortic Root Z-score ≥ 2 AND Ectopia Lentis are both present. Aortic Root Z-score ≥ 2 AND an FBN1 mutation is found. Aortic Root Z-score ≥ 2 AND a Systemic Score ≥ 7.
💡 This checklist is a tool for clinical evaluation. Many of these features appear in the general population or in other connective tissue disorders. A formal diagnosis must be made by a medical professional, usually a geneticist or cardiologist specializing in Marfan syndrome. marfan syndrome diagnostic criteria checklist