Marfan Syndrome: An Overview

Season: 2001

Submitted By: Dr. Michael Connelly (Marfan Symposium 2001)

Marfan Syndrome is a generalized disorder of connective tissues affecting the musculoskeletal system, the ocular system and the cardiovascular system. It can also affect the pulmonary system, the skin and the central nervous system. Marfan Syndrome was first described in 1896.

There is no clinically available test for the diagnosis of Marfan Syndrome. Diagnosis relies on clinical findings, including family history, physical exam, opthamologic exam, and an echocardiogram. There are specific diagnostic criteria for the body systems involved with Marfan Syndrome. Comparing the clinical findings to the set out criteria makes a definitive diagnosis. If there is a positive family history, then 1 major criteria plus involvement of a second organ system must be found. If there is a negative family history, then major criteria in 2 or more organ systems plus involvement of a third organ system is necessary for a definitive diagnosis.

There are many other disorders that may have some characteristics of Marfan Syndrome, but are not Marfan Syndrome. These include familial aortic dissection, familial ectopic lentis, and Ehlers- Danlos Syndrome, to name a few.

The life-expectancy for people with Marfan Syndrome has improved greatly from 32 years in 1970 to 70 years plus in 1990. The changes in the cardiovascular system may be correlated with life expectancy. Risk stratification is done to identify persons at high, medium or low risk for cardiovascular death. Approximately 30 - 80 % of patients have structural abnormalities in their cardiovascular system. These abnormalities account for > 90 % of deaths from Marfan Syndrome.

Management of Marfan Syndrome includes a firm diagnosis, multi-disciplinary approach with referrals to sub-specialties if necessary, and regular follow-up. Monitoring of aortic dilatation is extremely important on a regular basis either by echocardiogram, computerized tomography (CT), or magnetic resonance imaging (MRI). This monitoring will aid in the planning of surgical intervention at the appropriate time to decrease the chance of aortic rupture or dissection. Medications may be necessary to slow the progression of aortic dilatation.

Information is extremely important in regards to genetics and family screening, physical activity and employment, risks of pregnancy, and infective endocarditis prophylaxis. Genetic and career counseling can be arranged. Remember you are your own best advocate.