Marfan Syndrome and Related Disease Clinic

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Patients with Marfan have an abnormality in one specific gene, FBN1, which impacts the formation of a connective tissue protein called fibrillin. This, in turn, can impact the integrity of many organs and structures in the body, but is most dangerous when it impacts the cardiovascular system. Approximately 1 in 5,000 Americans have Marfan, and approximately 75% of those diagnosed inherited it from a parent.

Noted below are some of the more common symptoms of Marfan:

• Heart and blood vessels – dilation of the aorta, leakage of the aortic valve (aortic regurgitation), tears in the aorta
• Skeletal – deformities of the breastbone, scoliosis (curvature of the spine), bone misalignment, above average height, long fingers and toes, disproportionately long arm span, abnormal joint flexibility, flat feet, stooped shoulders, stretch marks
• Eyes – nearsightedness, astigmatism, dislocated lens
• Lungs – pain, shortness of breath

The physicians at the BWH Marfan Clinic begin by performing a thorough physical examination and getting a complete family medical history. Gathering the history is important for both determining what symptoms you are likely to develop and also for potentially discovering Marfan in other family members.

If more information is needed other tests may also be performed, such as:

• Electrocardiogram – records electrical activity of the heart
• Echocardiography – uses sound waves to evaluate the structure and function of the heart
• Eye examination – examine the interior eye with a slit lamp
• X-ray
• DNA studies

There is no known cure for Marfan. However, thanks to an increased focus on early intervention and effective treatments for managing symptoms, life expectancy for patients with Marfan has increased significantly. Treatments include lifestyle changes, medication and surgery. Here are some of the more common treatments:

• Heart and blood vessels – Beta-blockers help to decrease stress on the aorta. However, in some cases, surgery to replace a valve or repair the aorta may be necessary.
• Skeletal – An orthopedic brace can be used to realign the spine, and surgery can be used to repair the breastbone.
• Eyes – In most cases, eyeglasses or contact lenses can correct vision problems associated with Marfan. However, surgery may be necessary in some cases.
• Lungs – It is particularly important that patients with Marfan refrain from smoking, as they are already at heightened risk for lung damage.
• Nervous system - Medication can ease pain associated with dural ectasia (swelling of the covering of the spinal cord).
• Physical activity – Patients with Marfan should be particularly careful about the type of physical activities they participate in. Participating in competitive sports can be particularly harmful to already weakened body structures and can even lead to death.

Brigham and Women's Hospital also continues to search for ways to better treat, and, ultimately, to cure Marfan. BWH, with the assistance of Children's Hospital Boston, recently conducted a study on the use of the drug losartan in adults with Marfan syndrome. Losartan was designed to treat high blood pressure, but findings from another recent study have found that it could also have the benefit of slowing the enlargement of the aorta. The BWH trial addresses this capability, as it could be used to prevent or reverse the most life-threatening defect associated with Marfan.

Patients seeking information about the clinic, or wishing to schedule an appointment with a BWH physician, should call the Patient Referral Service number: 1-800-294-9999. This number is staffed 8:00am - 5:30pm, Monday through Friday. Patient referral representatives can help patients choose an appropriate physician and then schedule an initial appointment with that physician. For your convenience, bilingual patient referral representatives are available.