Diagnosis of Marfan Syndrome Clinical criteria Genetic testing Echocardiography / MRI (measurement of the aortic root, detection of valve prolapse) Slit-lamp examination (lens abnormalities) X-rays of skeletal system (hand, spine, pelvis, chest, foot, and skull for characteristic abnormalities) MRI of the lumbosacral spine (dural ectasia) Diagnosis of Marfan syndrome can be difficult because many patients have only a few typical symptoms and signs and no specific histologic or biochemical changes.