- Aortic Root Dilatation Z score ≥ 2 AND Ectopia Lentis = Marfan syndrome
- The presence of aortic root dilatation (Z-score ≥ 2 when standardized to age and body size) or dissection and ectopia lentis allows the unequivocal diagnosis of Marfan syndrome, regardless of the presence or absence of systemic features
- Except where these are indicative of Shprintzen Goldberg syndrome, Loeys-Dietz syndrome, or vascular Ehlers Danlos syndrome.
- Aortic Root Dilatation Z score ≥ 2 AND FBN1 = Marfan syndrome
- The presence of aortic root dilatation (Z ≥ 2) or dissection and the identification of a bona fide FBN1 mutation are sufficient to establish the diagnosis, even when ectopia lentis is absent.
- Aortic Root Dilatation Z score ≥ 2 AND Systemic Score ≥ 7pts = Marfan syndrome
- Where aortic root dilatation (Z ≥ 2) or dissection is present, but ectopia lentis is absent and the FBN1 status is either unknown or negative, a Marfan syndrome diagnosis is confirmed by the presence of sufficient systemic findings (≥ 7 points, according to a scoring system) confirms the diagnosis.
- However, features suggestive of Shprintzen Goldberg syndrome, Loeys-Dietz syndrome, or vascular Ehlers Danlos syndrome must be excluded and appropriate alternative genetic testing (TGFBR1/2, SMAD3, TGFB2, TGFB3, collagen biochemistry, COL3A1, and other relevant genetic testing when indicated and available upon the discovery of other genes) should be performed.
- Ectopia lentis AND Family History of Marfan syndrome (as defined above) = Marfan syndrome
- The presence of ectopia lentis and a family history of Marfan syndrome (as defined in 1-4 above) is sufficient for a diagnosis of Marfan syndrome.
- A systemic score ≥ 7 points AND Family History of Marfan syndrome (as defined above) = Marfan syndrome
- A systemic score of greater than or equal to 7 points and a family history of Marfan syndrome (as defined in 1-4 above) is sufficient for a diagnosis of Marfan syndrome.
- However, features suggestive of Shprintzen Goldberg syndrome, Loeys-Dietz syndrome, or vascular Ehlers Danlos syndrome must be excluded and appropriate alternative genetic testing (TGFBR1/2, SMAD3, TGFB2, TGFB3 collagen biochemistry, COL3A1, and other relevant genetic testing when indicated and available upon the discovery of other genes) should be performed.
- Aortic Root Dilatation Z score ≥ 2 above 20 yrs. old, ≥ 3 below 20 yrs. old + Family History of Marfan syndrome (as defined above) = Marfan syndrome
- The presence of aortic root dilatation (Z ≥ 2 above 20 yrs. old, ≥ 3 below 20 yrs. old) and a family history of Marfan syndrome (as defined in 1-4 above) is sufficient for a diagnosis of Marfan syndrome.
- However, features suggestive of Shprintzen Goldberg syndrome, Loeys-Dietz syndrome, or vascular Ehlers Danlos syndrome must be excluded and appropriate alternative genetic testing (TGFBR1/2, SMAD3, TGFB2, TGFB3, collagen biochemistry, COL3A1, and other relevant genetic testing when indicated and available upon the discovery of other genes) should be performed
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