How Is Marfan Syndrome Treated?

Treatments are available for Marfan syndrome to limit and prevent complications, prevent death from heart-related complications, improve physical appearance, and limit disfigurement. There is new hope for treatments that will be directed at how fibrillin 1 controls the growth in the body. Currently, Marfan syndrome has no cure.

Treatment for Heart and Blood Vessel Problems

Treatment for problems with the heart and blood vessels may include medicines and surgery. To decide when treatment is needed, doctors should repeat diagnostic tests (such as an annual echocardiogram) periodically and look for changes in the heart and aorta. Lifestyle changes also can help to reduce strain and stress on the heart and blood vessels.

Medicines

A variety of medicines are used to treat heart and blood vessel problems in people with Marfan syndrome.

Beta Blockers

Beta blockers are often used to:

• Slow or prevent aortic enlargement
• Stabilize aortic dissections that begin away from the heart so that immediate surgery is not required
• Lower blood pressure
• Help the heart beat less forcefully
• Decrease stress on the aorta

Calcium Channel Blockers

Calcium channel blockers:

• Relax blood vessels and lower blood pressure
• May be used instead of beta blockers when a person has other conditions such as asthma, heart failure, or arrhythmia

Angiotensin-Converting Enzyme Inhibitors

Also called ACE inhibitors, these medicines:

• Relax blood vessels and lower blood pressure
• Control or slow valve leakage (regurgitation)
• May be prescribed for a person who cannot take beta blockers due to other conditions such as asthma, heart failure, or arrhythmia

Other medicines may include:

• Anticoagulants, which are used to prevent clots after heart valve replacement surgery.
• Antibiotics, which should be prescribed before dental work or invasive procedures. They help prevent bacteria that enter the bloodstream from causing an infection of the inner lining of the heart called endocarditis (EN-do-kar-DI-tis).

Surgery

Aortic Valve Surgery

Some people with Marfan syndrome need surgery to repair or replace the aorta or the aortic valve. Doctors may recommend surgery for several reasons, such as:

• The diameter (width) of the aorta is enlarging rapidly (greater than 1 cm/year).
• The diameter of the aorta has become significantly enlarged.
• Other family members with Marfan syndrome have had aortic dissection or aortic aneurysm rupture.
• There is evidence of aortic valve leakage (regurgitation).

Although any kind of surgery has risks, doctors have had more success with aortic repair and aortic valve replacement surgery when done on an elective (nonemergency) basis than on an emergency basis.

Patients with the criteria mentioned above may need surgery to repair or replace their aorta. Composite valve-graft aortic replacement surgery and aortic valve-sparing surgery are the two main types of surgery that surgeons use in patients with Marfan syndrome and problems with the aorta. Choices for aortic repair or replacement surgery each have advantages and disadvantages. These should be thoroughly discussed with the surgeon to determine which surgery is best suited to the individual.

Composite valve-graft aortic replacement surgery. Most often, doctors recommend composite valve-graft surgery to repair an enlarged aorta or to prevent aortic dissection and rupture. In this open-heart surgery, the aortic valve and part of the aorta are replaced. Surgeons remove the aneurysm (enlarged part of the aorta) and replace it with an artificial tube called a graft. An artificial (mechanical) valve replaces the native aortic valve. People who receive a mechanical aortic valve require anticoagulant medicine to prevent blood clots from forming on the mechanical valve.

Aortic valve-sparing surgery. Valve-sparing surgery is a newer and increasingly used approach for patients who have an enlarged aorta but an otherwise normal aortic valve. Similar to composite valve-graft surgery, valve-sparing surgery is an open-heart procedure. Most surgeons do not recommend valve-sparing surgery in emergency situations.

During valve-sparing surgery, the enlarged part of the aorta is removed. A tube, or graft, is tailored appropriately, and the patient’s own, healthy aortic valve is sewn within the tube.

When compared to composite valve-graft surgery, advantages of this type of surgery include:

• No need for anticoagulant medicine, because there is no mechanical valve
• Less risk of endocarditis, an infection of the aortic valve

Mitral Valve Surgery

Surgery may be needed if a person with Marfan syndrome has mitral valve prolapse or if the valve is leaking (mitral regurgitation). The doctor may suggest valve repair procedures (valvuloplasty) or valve replacement.

• Valvuloplasty is open-heart surgery to repair the damaged valve. Occasionally and in certain hospitals, the procedure can be accomplished with a minimally invasive approach. Though still an open-heart procedure performed with the aid of a heart-lung machine, the incisions are smaller and recovery time is accelerated.
• Valve replacement is open-heart surgery. The defective valve is replaced with a mechanical valve or a valve from cow or pig tissue. When a mechanical valve is used, lifelong therapy with anticoagulant medicines is required to prevent clot formation.

Treatment for Skeletal System Problems

Doctors may recommend several options to treat problems of the skeletal system.

Brace or Other Prosthetic Device

These devices may be used to stabilize the spine. They are often used in children with scoliosis if the curve is between 20 and 40 degrees. A brace helps keep the curvature from getting worse as a child grows, but surgery may still be necessary.

Surgery for Scoliosis

If the curve in the spine is greater than 40 to 50 degrees, surgery may be needed. Doctors may suggest surgery if a person has severe, ongoing back pain or if lung function is being affected. In this surgery, the surgeon inserts metal rods that help straighten and fuse the spine in the correct position.

Surgery for Chest Wall (Pectus) Deformities

Sometimes people with Marfan syndrome need chest surgery to limit damage and disfigurement, to prevent heart and lung compression or impaired function, or to improve their appearance. Doctors usually wait to do this surgery until after mid-adolescence when the ribs stop growing. Surgery to treat “pigeon breast” flattens and straightens the deformed breastbone and ribs. Surgery to treat “funnel chest” raises and straightens the breastbone and ribs.

Treatment for Eye Problems

Several eye conditions that often occur in people with Marfan syndrome need treatment. These include nearsightedness (myopia), visual distortion (astigmatism), and dislocated lens (ectopia lentis).

The doctor may recommend:

• Corrective devices, such as eyeglasses or special contact lenses. Most often, eye problems can be adequately controlled with eyeglasses alone.
• Lens implant surgery, but only when the eye has grown to full size.