Prevention of Cardiovascular Complications in the Marfan Syndrome

Marfan syndrome is an autosomal dominant inherited connective tissue disorder with an estimated prevalence of 2-3 per 10,000. The underlying genetic cause of the Marfan syndrome is a mutation in the fibrillin I gene at chromosome 15. The manifestation of Marfan syndrome primarily involves the cardiovascular, musculoskeletal and ocular systems. Patients with Marfan syndrome are at risk of sudden death at young age due to aortic dilatation and dissection in the entire aorta, which are not always predictable by mere anatomic assessment of the aortic diameter. Recently it has been shown that both aortic stiffness and aortic diameters are independent predictors for aortic complications. Due to improved detection of patients at risk, timely surgical intervention may prevent aortic dissection and death. Currently, it is possible to replace the entire aorta with a Dacron graft. The role of ß-blocking therapy is well established in non-operated patients, but seems doubtful in patients with a substantial part of the aorta replaced by an artificial graft. Prophylactic aortic surgery should be considered in pregnant women with Marfan syndrome and enlarged aortic diameters, because of the increased risk of dissection.

In this review we will describe cardiovascular complications of the Marfan syndrome and will discuss strategies for prevention and management.