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
patients 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.
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