Marfan Syndrome Diagnostic Criteria Checklist !!link!! Official

This checklist breaks down the criteria into the two main components used for diagnosis: (a scoring system) and Aortic Root Aneurysm/Ectopia Lentis (major red flags).

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. marfan syndrome diagnostic criteria checklist

Enlargement of the sac around the spinal cord, usually confirmed via MRI or CT. This checklist breaks down the criteria into the

Connective tissue holds the body together and provides a framework for growth. In Marfan syndrome, a mutation in the FBN1 gene affects the production of fibrillin-1, leading to tissue weakness. The Ghent criteria were updated in 2010 to prioritize the most life-threatening symptoms, such as aortic enlargement, and the most definitive evidence, such as genetic testing. Core Diagnostic Pillars Aortic Root Z-score ≥ 2 AND a Systemic Score ≥ 7

The diagnosis is usually confirmed if a patient has of these cardinal features, regardless of other symptoms. If they only have one, the "Systemic Score" and genetic testing come into play.