2. Marfan syndrome is an inherited disorder that affects connective tissue —
the fibers that support and anchor your organs and other structures in
your body. Marfan syndrome most commonly affects the heart, eyes,
blood vessels and skeleton.
People with Marfan syndrome are usually tall and thin with
disproportionately long arms, legs, fingers and toes. The damage caused
by Marfan syndrome can be mild or severe. If your heart or blood vessels
are affected, the condition can become life-threatening.
Treatment usually includes medications to keep your blood pressure low
to reduce the strain on weakened blood vessels. Depending on the
severity of your symptoms and the part of your body that's affected,
surgery may be necessary.
INTRODUCTION
3. SYMPTOMS
The signs and symptoms of Marfan
syndrome vary greatly, even among
members of the same family.
Some people experience only mild effects,
but others develop life-threatening
complications. In most cases, the disease
tends to worsen with age.
4. Marfan syndrome features may include:
Tall and slender build
Disproportionately long arms, legs, fingers and toes
A breastbone that protrudes outward or dips inward
A high, arched palate and crowded teeth
Heart murmurs
Extreme nearsightedness
An abnormally curved spine
Flat feet
5. When to see a doctor
If you think that you or your child may have Marfan syndrome, talk to
your doctor or pediatrician. If your doctor suspects a problem, you'll
likely be referred to a specialist for further evaluation.
6. CAUSES
Marfan syndrome is caused by a defect in the gene that enables your
body to produce a protein that helps give connective tissue its elasticity
and strength.
Most people with Marfan syndrome inherit the abnormal gene from a
parent who has the disorder. Each child of an affected parent has a 50-
50 chance of inheriting the defective gene. In about 25 percent of the
people who have Marfan syndrome, the abnormal gene doesn't come
from either parent. In these cases, a new mutation develops
spontaneously.
7. RISK FACTORS
Marfan syndrome affects men and women equally and occurs
among all races and ethnic groups. Because it's a genetic condition,
the greatest risk factor for Marfan syndrome is having a parent with
the disorder.
8. COMPLICATIONS
Because Marfan syndrome can affect almost any part of your body, it
may cause a wide variety of complications.
Cardiovascular complications
The most dangerous complications of Marfan syndrome involve the
heart and blood vessels. Faulty connective tissue can weaken the aorta
— the large artery that arises from the heart and supplies blood to the
body.
9. Aortic aneurysm.
The pressure of blood leaving your heart can cause the wall of your
aorta to bulge out, like a weak spot in a tire. In people who have
Marfan syndrome, this is most likely to happen at the aortic root —
where the artery leaves your heart.
Aortic dissection.
The wall of the aorta is made up of layers. Dissection occurs when a
small tear in the innermost layer of the aorta's wall allows blood to
squeeze in between the inner and outer layers of the wall. This can
cause severe pain in the chest or back. An aortic dissection weakens
the vessel's structure and can result in a rupture, which may be fatal.
10. Valve malformations.
People who have Marfan syndrome also are more likely to have
problems with their heart valves, which may be malformed or
overly elastic. When heart valves don't work properly, your heart
often has to work harder to compensate. This can eventually lead
to heart failure.
11. Eye complications
Eye complications may include:
Lens dislocation.
The focusing lens within your eye can move out of place if its supporting
structures weaken. The medical term for this problem is ectopia lentis
and it occurs in more than half the people who have Marfan syndrome.
Retinal problems.
Marfan syndrome also increases the risk of a detachment or tear in the
retina, the light-sensitive tissue that lines the back wall of your eye.
12. Early-onset glaucoma or cataracts.
People who have Marfan syndrome tend to develop these eye
problems at a younger age. Glaucoma causes the pressure within
the eye to increase, which can damage the optic nerve. Cataracts are
cloudy areas in the eye's normally clear lens.
Skeletal complications
Marfan syndrome increases the risk of abnormal curves in the spine,
such as scoliosis. It also can interfere with the normal development of
the ribs, which can cause the breastbone to either protrude or appear
sunken into the chest. Foot pain and low back pain are common with
Marfan syndrome.
13. Complications of pregnancy
Marfan syndrome can weaken the walls of the aorta, the main artery
that leaves the heart. During pregnancy, a woman's heart is
pumping more blood than usual, and this can put extra stress on a
woman's aorta — which increases the risk of a deadly dissection or
rupture.
14. PREPARING FOR YOUR APPOINTMENT
Marfan syndrome can affect many different parts of your body, so you may need to see a variety of
medical specialists, such as:
A cardiologist, a doctor who specializes in heart and blood vessel disorders
An ophthalmologist, a doctor who specializes in eye disorders
An orthopedist, a doctor who specializes in structural problems of the skeleton
A geneticist, a doctor who specializes in genetic disorders
To make the best use of appointment time, plan ahead and have important information available,
including:
Detailed descriptions of all your symptoms
Details of your past medical history, including any previous surgeries
A list of all your medications and supplements
What to expect from your doctor
All your doctors will want to hear about your specific symptoms, and whether anyone in your family has
had Marfan syndrome or experienced an early, unexplained heart-related disability or death.
15. TESTS AND DIAGNOSIS
Marfan syndrome can be challenging for doctors to diagnose because
many connective tissue disorders have similar signs and symptoms.
Even among members of the same family, the signs and symptoms of
Marfan syndrome vary widely — both in their features and in their
severity.
Certain combinations of symptoms and family history must be present to
confirm a diagnosis of Marfan syndrome. In some cases, a person may
have some features of Marfan syndrome, but not enough of them to be
diagnosed with the disorder.
16. Heart tests
If your doctor suspects Marfan syndrome, one of the first tests he or she
may recommend is an echocardiogram. This test uses sound waves to
capture real-time images of your heart in motion. It checks the condition of
your heart valves and the size of your aorta. Other heart imaging options
include computerized tomography (CT) scans and magnetic resonance imaging
(MRI).
If you are diagnosed with Marfan syndrome, you'll need to have regular
echocardiograms to monitor the size and condition of your aorta.
17. Eye tests
Eye exams that may be needed include:
Slit-lamp exam.
This test checks for lens dislocation, cataracts or a detached retina. Your
eyes will need to be completely dilated with drops for this exam.
Eye pressure test.
To check for glaucoma, your eye doctor may measure the pressure inside
your eyeball by touching it with a special tool. Numbing eye drops are
usually used before this test.
18. Genetic testing
If findings from standard exams for Marfan syndrome aren't clear cut,
genetic testing can be helpful. You may also want to talk to a genetic
counselor before starting a family, to see what your chances are of
passing on Marfan syndrome to your future children.
19. TREATMENTS AND DRUGS
While there is no cure for Marfan syndrome, treatment focuses on
preventing the various complications of the disease. In the past,
people who had Marfan syndrome rarely lived past 40. With regular
monitoring and modern treatment, most people with Marfan
syndrome can now expect to live a more normal life span.
20. Medications
Doctors often prescribe blood pressure lowering drugs to help prevent
the aorta from enlarging and to reduce the risk of dissection and
rupture. The most commonly used drugs are beta blockers, which
cause your heart to beat more slowly and with less force. Other blood
pressure drugs, such as losartan (Cozaar), also show promise.
Therapy
A dislocated lens in your eye can be treated effectively with glasses or
contact lenses that refract around or through the lens. Surgery to
replace the lens also may be an option.
21. Surgical and other procedures
Depending upon your signs and symptoms, procedures might include:
Aorta repair.
If your aorta's diameter enlarges quickly or reaches a dangerous size
— usually around 2 inches (5 centimeters) — your doctor may
recommend an operation to replace a portion of your aorta with a tube
made of synthetic material. This can help prevent a life-threatening
rupture. Your aortic valve may need to be replaced as well.
22. Scoliosis treatment.
For some children and adolescents, doctors recommend a custom-made
back brace, which is worn nearly continuously until growth is complete. If
the curve in your child's spine is too great, your doctor may suggest
surgery to straighten the spine.
Breastbone corrections.
If a sunken breastbone affects your child's breathing, surgery to repair
the deformity may be an option, and insurance is likely to cover it. A
protruding breastbone usually doesn't cause functional problems, but it
may be a cosmetic concern — which may mean your insurance won't
cover it.
23. Eye surgeries.
If parts of your retina have torn or come loose from the back of
your eye, surgical repair is usually successful. If you have
cataracts, your clouded lens can be replaced with an artificial
lens.
24. LIFESTYLE AND HOME REMEDIES
You may need to avoid competitive sports and certain
recreational activities if you're at increased risk of aortic
dissection or rupture. Increases in blood pressure, common in
activities such as weightlifting, place extra strain on the aorta.
Less intense activities — such as brisk walking, bowling, doubles
tennis or golf — are generally safer.
25. COPING AND SUPPORT
Living with a genetic disorder can be extremely difficult for both
adults and children. Adults who receive a diagnosis later in life may
wonder how the disease will affect their careers, their relationships
and their sense of themselves. And they may worry about passing
the defective gene to their children.
But Marfan syndrome can be even harder on young people,
especially because the often-inherent self-consciousness of
childhood and adolescence may be exacerbated by the disease's
effect on appearance, academic performance and motor skills.
26. Providing emotional, practical support
Working together, parents, teachers and medical professionals can
provide children with both emotional support and practical solutions for
some of the more distressing aspects of the disease. For example,
children with Marfan syndrome may struggle in school because of eye
problems that can be corrected with glasses or contact lenses.
27. For most young people, cosmetic concerns are at least as important as
academic ones. #Parents can help by anticipating these #concerns and
offering #solutions:
#Contact #lenses instead of #glasses
A #brace for #scoliosis
#Dental #work for #crowded #teeth
#Clothes that #flatter a #tall, thin #frame
In the long #run, #accurate #information about the #disease, #good
#medical #care and #strong #social #support can help both #children
and #adults cope with #Marfan #syndrome
