Marfan Syndrome Diagnostic Criteria

Key Diagnostic Elements

• The aortic root diameter should not exceed 40-42 mm even in tall individuals, according to the American College of Medical Genetics and Genomics 1, 2
• Echocardiography is essential to measure aortic root diameter with Z-score calculation, as recommended by the American College of Medical Genetics and Genomics 3
• Dilated ophthalmologic examination is necessary to assess for ectopia lentis, as suggested by the American Academy of Ophthalmology 1, 4
• Lumbosacral MRI or CT is recommended if dural ectasia assessment would change diagnostic classification, according to the American College of Medical Genetics and Genomics 3
• Joint hypermobility (Beighton score ≥5/9) can mimic MFS but is more characteristic of Ehlers-Danlos syndrome hypermobile type, which has different cardiovascular risk profiles, as noted by the American College of Medical Genetics and Genomics 1, 4