Echocardiography to evaluate for aortic root dilatation is the most appropriate routine monitoring test for this patient with Marfan syndrome. This autosomal dominant condition is characterized by a mutation in the gene FBN1 responsible for producing fibrillin 1, a structural protein in tissues that contain elastic fibers, such as the arterial wall. Clinical features include tall stature, arachnodactyly, anterior thoracic deformity, spinal curvature, and skin hyperextensibility. The most common cause of morbidity and mortality is aortic root dilatation with possible dissection, rupture, or aortic valve insufficiency. Current guidelines recommend that echocardiography should be performed at the time of diagnosis to determine aortic root and ascending aortic diameters and 6 months later to determine their rate of enlargement. Annual imaging is recommended if stability of the aortic diameter is documented. If the maximal aortic diameter is 4.5 cm or greater, more frequent imaging should be considered.

Patients with Marfan syndrome may develop abdominal aortic aneurysm, but thoracic involvement or thoracic and abdominal aneurysms are much more common. There currently are no recommendations from any organization to routinely screen these patients with abdominal ultrasonography.

Apical lung bullae can form and lead to pneumothorax in patients with Marfan syndrome; however, there are no data to suggest that monitoring with annual chest radiography has any impact on morbidity or mortality.

Likewise, routine monitoring for progressive skeletal abnormalities, including annual spine radiography to monitor this patient's scoliosis, is not indicated because it has no impact on outcome and should be evaluated only when symptomatic. However, counseling regarding joint protection to prevent osteoarthritis is useful.