Summary:
Marfan Syndrome
Marfan syndrome is an inherited, or genetic disorder that affects 2 to 3 per 10,000 individuals. It occurs due to a defect in a protein called fibrillin 1, which is an important component of connective tissue. Approximately 15 percent of individuals have no family history of Marfan syndrome and represent new genetic mutations.
What are Clinical Features of Marfan Syndrome?
Marfan syndrome causes abnormalities in connective tissue and leads to defects in three major organ systems: skeletal, ocular, and cardiovascular.
Skeletal deformities include increased height and arm span, anterior chest deformity, mild to moderate joint looseness, vertebral column deformity (such as scoliosis), narrow jaw and high palate causing crowded teeth, and joint hypermobility.
Ocular abnormalities include near-sightedness, corneal flatness, and lens subluxation.
Cardiovascular abnormalities include mitral valve prolapse, aortic root dilatation, mitral valve regurgitation, aortic regurgitation and and rupture or dissection of the aorta. The most important complication of this syndrome is a progressive dilatation of the aortic root and ascending aorta, which leads to aortic valve incompetence and aortic dissection.
How is the Diagnosis of Marfan Syndrome Made?
For a clinical diagnosis of Marfan syndrome to be made in the absence of a family history, an individual must display major criteria in two of the affected organ systems and show evidence of involvement of a third system. If there is a positive family history, an individual must show major criteria in one organ system and evidence of involvement of a second system.
Some authors have written about the importance of evaluation for skeletal abnormalities in children to allow for earlier diagnosis of the syndrome and therefore appropriate monitoring of potential cardiovascular abnormalities.
What are the Treatment Options in Marfan Syndrome?
Patients with this diagnosis must be evaluated for cardiovascular abnormalities, as these are the most life threatening. This can be accomplished by periodic echocardiograms. In adults with Marfan syndrome, beta-blocker therapy has been shown to be effective in slowing the rate of aortic dilatation and reducing the risk of aortic complications. Some patients will require valve replacement or aortic surgery due to progressive enlargement of the aortic root, aortic dissection or frank rupture.
What is the Life Expectancy in Marfan Syndrome?
The life expectancy for patients with Marfan syndrome has increased drastically, from 37 years in 1972 to more than 61 years in 1995, reported by a study performed in 1998. The reason for this increase is due to advances in aortic surgery and medical treatment, a larger portion of patients diagnosed with mild forms of the disease, and a general increase in overall life expectancy in the industrialized world.
