====== Marfan Syndrome ======

==== Diagnostic Criteria ====
=== Ghent Nosology revised 2010 ===
== No Family History ==
  - Aortic Root Dilatation Z score ≥ 2 AND [[ectopia_lentis|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.
== Family History Present ==
  - [[ectopia_lentis|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

== Aortic Root Z-Scores ==
  * [[https://marfan.org/dx/zscore-children/|Calculator for Children]]
  * [[https://marfan.org/dx/z-score-adults/|Calculator for Adults]]


== References ==
  * [[http://jmg.bmj.com/content/47/7/476.abstract|Loeys et al. Journal Medical Genetics 2010]]
  * [[https://marfan.org/dx/rules/|The Marfans Foundation]]

{{tag>syndrome}}