Monitoring
The American Academy of Pediatrics recommends cardiac exam at each visit up to the age of 13 years after which it is recommended annually. Echocardiogram is recommended at diagnosis with a repeat test after 6 months - most children will then require an annual echocardiogram (though frequency depends on the z-score and may be more often) along with ophthalmological review annually. Assessment for scoliosis, joint laxity, and pectus deformity should be carried out at each visit up to the age of 1 year, then annually from age 1 to 5 years and 6 monthly from the age of 6 to 18 years.[3]
Ideally a cardiologist familiar with Marfan syndrome should be involved with follow-up. If echocardiogram does not clearly demonstrate aortic root dimensions computed tomography (CT) or magnetic resonance angiography (MRA) can be used - MRA is recommended for serial studies due to radiation associated with CT.[3]
Patients who have undergone an aortic root replacement require surveillance imaging by MRI or CT initially annually and then every 2 years if unchanged.[19] In these patients surveillance for abdominal aortic aneurysm every 3-5 years is considered reasonable.[19]
Patients with Marfan syndrome also need routine eye care for optical correction of refractive errors, periodic monitoring of intraocular pressure, and anterior segment examination with a slit-lamp to assess the eye for lens location and opacities. Fundus exam with pupil dilation is routinely performed in all cases, with particular attention to peripheral retinal changes, tears, or detachment.
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