If a parent has Marfan syndrome, their child has a 50% chance of inheriting it. In these cases, the diagnosis is easier:
The revision simplified the process by emphasizing cardiovascular and ocular findings while utilizing a points-based "systemic score" for other features. How Diagnosis is Established: + Ectopia Lentis = MFS Aortic Root Dilation + FBN1 Mutation = MFS Aortic Root Dilation + Systemic Score ≥7is greater than or equal to 7 = MFS ghent criteria
Thus, the Ghent Criteria are first, genetic second. If a parent has Marfan syndrome, their child
A total of are possible across various organ systems. A score of 7 or more is clinically significant. Wrist AND Thumb Sign Wrist OR Thumb Sign Pectus Carinatum (pigeon chest) Pectus Excavatum (sunken chest) or asymmetry Hindfoot Deformity (valgus) Dural Ectasia (widening of the dural sac) Protrusio Acetabuli (hip joint deformity) Pneumothorax (collapsed lung) Scoliosis or kyphosis Reduced Elbow Extension Facial Features (3 of 5 specific signs) Skin Striae (stretch marks) Myopia (>3 Diopters) Mitral Valve Prolapse Key Benefits of the Revision A total of are possible across various organ systems
The Revised Ghent Criteria moved away from a simple "yes/no" checklist to a more nuanced system. It revolves around two key elements: (the heart) and the Ectopia Lentis (dislocated eye lenses).
The Systemic Score acts as a tie-breaker. It assigns points to various features: