What Is Marfan’s Syndrome?
Marfan’s syndrome is an inherited connective tissue disorder that
affects normal body growth. Connective tissue provides support for your
skeletal structure and all organs of your body. Any disorder that affects your
connective tissue (such as Marfan’s syndrome) will impact your entire body,
including your organs, skeletal system, skin, eyes, and heart.
Obvious physical characteristics of this disorder include being
tall and lanky, and having loose joints, large and flat feet, and disproportionately
long fingers. This disorder occurs among people of all ages and races. It’s
found in both men and women. According to the Marfan Foundation, the syndrome
occurs in about one in 5,000 people.
Recognizing the Signs of Marfan’s Syndrome
Symptoms of this disorder may show up in infancy and early
childhood, or later in life. Some symptoms may worsen with age.
This disorder shows itself differently in different people. The
visible symptoms occur in your bones and joints. Visible symptoms may include:
- unusually tall height
- long limbs
- large, flat feet
- loose joints
- long, thin fingers
- a curved spine
- a chest bone (sternum) that sticks out or caves
- crowded teeth (caused by an arch in the roof of
Heart and Blood
The more invisible symptoms occur in your heart and blood. Your
aorta, the large blood vessel that transports blood from your heart, may become
enlarged. An enlarged aorta may cause no symptoms. However, it carries the risk
of a life-threatening rupture. Seek
medical assistance immediately if you’re having chest pains, breathing
problems, or an uncontrollable cough.
People with Marfan’s syndrome often have eye problems. About one in six people with
this condition have “partial lens dislocation” in one or both of their eyes.
Becoming severely nearsighted is also common. Many people with this condition
need eyeglasses or lenses to correct vision problems. Finally, early-onset
cataracts and glaucoma are also much more common in people with Marfan’s
syndrome, compared to the general population.
What Causes Marfan’s Syndrome?
Marfan’s syndrome is a genetic or inherited disorder. The genetic
defect occurs in a protein called fibrillin-1, which plays a large role in the
formation of your connective tissue. The defect also causes overgrowth in
bones, resulting in long limbs and significant height.
There’s a 50
percent chance that if one parent has this disorder, their child will also
have it (autosomal dominant transmission). However, a spontaneous genetic
defect in their sperm or egg can also cause a parent without Marfan’s syndrome
to have a child with this disorder. This spontaneous genetic defect is the
cause of about 25
percent of cases of Marfan’s syndrome. In the other 75 percent of cases,
people have inherited the disorder.
Diagnosing Marfan’s Syndrome
Your doctor will typically begin the diagnostic process by
reviewing your family history and conducting a physical exam. They can’t detect
the disease through genetic testing alone. A complete evaluation is necessary.
It typically includes an examination of your skeletal system, heart, and eyes.
Typical exams include:
- an echocardiogram,
which is used to examine your aorta for enlargement, tears, or aneurysms
(bubble-like swelling due to weakness in the walls of the artery)
- an electrocardiogram
(EKG), which is used to check your heart rate and rhythm
- a magnetic resonance imaging (MRI) test, which
is performed in some people to look for lower back problems
- an eye exam, which allows your doctor to examine
the overall health of your eyes, to test how acute your sight is, and to screen
for cataracts and glaucoma.
Treatments for Marfan’s Syndrome
Marfan’s syndrome can’t be cured. Treatments typically focus on
lessening the impact of various symptoms.
Your aorta becomes larger in this condition, increasing your risk
for many heart problems. It’s essential that you regularly consult with a heart
specialist. If problems exist with your heart valve, medications such as
beta-blockers (which reduce blood pressure) or replacement surgery may be
Bones and Joints
Annual checkups help to detect spine or breastbone changes. They
are especially important for fast-growing adolescents. Your doctor may
prescribe an orthopedic brace or recommend surgery, especially if rapid growth
of your skeletal system is causing problems for your heart or lungs.
Regular eye exams help to detect and correct vision problems.
Your eye doctor may recommend eyeglasses, contact lenses, or surgery, depending
on your condition.
You are more at risk of developing lung problems if you have this
disorder. This is why it’s important not to smoke. If you have breathing problems, sudden chest pain, or a persistent
dry cough, call your doctor immediately.
Living with Marfan’s Syndrome
Given the many different possible complications related to the
heart, spine, and lungs, people with Marfan’s syndrome run the risk of a
shorter lifespan. However, regular visits to your doctor and effective
treatments can help you survive into your 70s and beyond.
Check with your doctor before engaging in strenuous sports and
physical activities. Skeletal system, vision, and heart issues may make it
dangerous to participate in sports like football and other contact sports.
Lifting heavy objects can also cause problems and should be avoided.
How to Reduce Your Unborn Child’s Risk of
You can undergo genetic counseling before having children if you
have Marfan’s syndrome. However, about one-quarter
of Marfan’s cases result from spontaneous gene defects, making it impossible to
predict and prevent the disease entirely. To prevent potential pregnancy
complications that result from the disease, seek medical attention and have regular