How is Marfan Syndrome treated?
Patients with clinical features consistent with MFS (see Question 9) should undergo counseling and genetic testing. Those found to have the genetic mutation should undergo aortic imaging to document aortic root size and monitor for dilation and/or dissection. Pregnancy is associated with increased cardiovascular risk, with progressive aortic dilatation and risk for dissection that occurs most frequently in the third trimester and early postpartum; hence, close monitoring is necessary. Annual ophthalmologic screening is recommended for detection of ectopia lentis, cataract, glaucoma, and retinal detachment. An orthopedic evaluation for spinal or peripheral joint conditions is recommended.
Preventative measures are taken to prevent and monitor for cardiovascular problems. Β-adrenergic blockade and angiotensin receptor blockers (ARBs) have been used to slow dilatation of the aortic root. The dose of beta blockers should be titrated to limit heart rate to <100 in adults and <110 in children following submaximal exercise (running up and down two flights of stairs). Addition of an ARB to beta blocker therapy as tolerated is recommended in patients with MFS with aortic aneurysm. Echocardiography is performed yearly to follow aortic dilatation; when the size exceeds 50% of normal (>45 mm) or shows a rapid change (≥0.5 cm/year), the frequency of screening is recommended at 6-month intervals. Echocardiography is also helpful in identifying the presence of mitral and aortic valvular disease. Patients with MFS should avoid contact sports, exercise to exhaustion, and isometric activities involving a valsalva maneuver. Elective surgery is indicated when aortic root diameter at the sinuses of valsalva approaches 50 mm.
