Marfan syndrome is an autosomal dominant disorder that occurs in all races and ethnic groups. Marfan syndrome is caused by mutations in the gene that encodes fibrillin-1, the major constituent of microfibrils that forms elastic fibers in tissues of the middle wall of the aorta and arteries.
A. Diagnostic Symptoms and Physical Signs
The heart, aorta, the eye, and the skeleton show typical features that are diagnostic, but marked clinical variabil¬ity and a high rate of new mutation make detection of mildly affected young sporadic patients difficult to diagnose. Thus, failure to diagnose Marfan syndrome is common.
B. Management
Endocarditis prophylaxis is necessary as well as restriction of severe exertional activity including weightlifting and contact sports. The use of beta-adrenergic blocking drugs such as metoprolol have been shown to delay the rate of aortic dilatation and the risk of aortic dissection. Pregnancy should be avoided in individuals with an aortic diameter that exceeds 3.5 mm, because pregnancy enhances dissec¬tion in the third trimester or during parturition and the first month postpartum.