pediatrics
Marfan Syndrome
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. Considering this variability, diagnostic criteria are based on constellations of clinical findings and family and genetic history. (For more on diagnosis, see therevised Ghent nosology[2010], which heavily weights the presence of aortic root dilation or dissection, and lens dislocation.) Nonetheless, diagnosis is uncertain in many partial cases of Marfan syndrome. Classic homocystinuria can partially mimic Marfan syndrome but can be differentiated by detecting homocystine in the urine. Genetic testing for Standard imaging of the skeletal, cardiovascular, and ocular systems is done to detect any clinically relevant structural abnormalities and to provide information contributing to the diagnostic criteria (eg, echocardiography to identify aortic root enlargement). In addition to the criteria established within organ systems, family history (first-degree relative with Marfan syndrome) and genetic history (presence of theFBN1mutation known to cause Marfan syndrome) are considered major criteria. 