Sindroma Marfan

DEFINISI
Sindroma Marfan adalah suatu penyakit jaringan ikat keturunan yang menyebabkan kelainan
pada pembuluh darah dan jantung, kerangka tubuh dan mata.

PENYEBAB
Sindroma Marfan diturunkan melalui rantai autosom dominan.

GEJALA
Kelainan pembuluh darah dan jantung:
 Kelemahan pada dinding aorta bisa menyebabkan pelebaran sehingga terbentuk
aneurisma
 Darah bisa menyusup diantara lapisan-lapisan dinding pembuluh darah (diseksi aorta)
atau terjadi robekan pada aneurisma
 Jika aorta melebar, bisa terjadi regurgitasi katup aorta
 Prolaps katup mitral.

Kelainan kerangka tubuh:

 Penderita bertubuh tinggi dan kurus
 Araknodaktili (lengan dan tungkainya panjang dengan jari-jari tangan yang menyerupai
laba-laba)
 Jjika kedua lengannya direntangkan ke samping, maka jarak antara kedua ujung jari
tangan lebih besar dari tinggi badannya
 Kelainan dada (pektus ekskavatum/dada cekung atau pektus karinatum/dada burung
dara/dada menonjol)
 Kifoskoliosis (bongkol punggung disertai kelengkungan tulang belakang yang abnormal)
 Langit-langit mulut tinggi
 Kaki datar
 Gigi bertumpuk.

Kelainan mata:
 Miopia (rabun jauh)
 Dislokasi (kelainan letak) lensa mata
 Ablasio retina (retina terlepas).

DIAGNOSA
Diagnosis ditegakkan berdasarkan gejala-gejalanya.

PENGOBATAN
Tujuan utama pengobatan adalah mencegah kelainan pada pembuluh darah dan mata.
Pemeriksaan mata dilakukan 1 kali/tahun. Jika terjadi gangguan penglihatan, segera
dikoreksi.

Reserpin atau propanolol bisa digunakan untuk mencegah pelebaran dan diseksi aorta.
Jika aorta melebar, bisa dilakukan pembedahan untuk memperbaiki ataupun menggantinya.

Kepada anak perempuan yang sangat tinggi bisa dianjurkan untuk menjalani terapi hormon
(estrogen dan progesteron). Terapi hormon biasanya diberikan ketika penderita berumur 10
tahun untuk merangsang pubertas dini sehingga pertumbuhan terhenti
Definition

Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that provide
the framework and support for your body. As a result, Marfan syndrome can involve many
different body systems, including your heart and blood vessels, eyes, and skeleton. The damage
caused by Marfan syndrome can be mild or severe. The most serious effects of Marfan syndrome
can be life-threatening.

People with Marfan syndrome are usually tall and thin, with disproportionately long arms, legs,
fingers and toes. Some experts believe Abraham Lincoln may have had Marfan syndrome.
According to the National Institutes of Health, Marfan syndrome occurs in at least one person per
5,000.

Symptoms

Because Marfan syndrome can affect so many body systems, the symptoms of the disease vary
greatly, even among members of the same family. Some people experience only mild effects,
whereas others develop life-threatening complications. In most cases, the disease tends to worsen
with age.

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
 A curved spine
 Flat feet

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.

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. Marfan syndrome is an autosomal dominant condition, which means that a defective
gene from only one parent is needed to pass the disease on. It also means that each child of an
affected parent has a 50-50 chance of inheriting the defective gene.
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

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 curves over your heart and
supplies blood to the body, then splits in your pelvis to supply blood to your legs.

 Aortic aneurysm. The pressure of blood leaving your heart can cause the wall of your
artery 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. The bulge
can spread along the entire length of the aorta, into your abdomen. If it ruptures or tears,
you may die.
 Aortic dissection. The wall of the aorta is made up of thin 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 often results in a rupture,
which can be fatal.
 Valve malformations. People who have Marfan syndrome are also 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 muscle often has to work harder to compensate. This
can eventually lead to heart failure.

Eye complications
Eye complications may include:

 Dislocation of the lens in one or both eyes because of weakness in the ligaments that
hold the lens in place.
 Glaucoma, a condition in which abnormally high pressure within your eyes damages the
optic nerve. Symptoms may range from sensitivity to light and glare to severe eye pain,
blurred vision and blindness.
 A cataract, which clouds the eye's normally clear lens.
 Detachment or tear in the retina, the light-sensitive tissue that lines the back wall of
your eye.

Lung complications
Marfan syndrome can cause breathing difficulties, either from defective connective tissue or from
chest wall abnormalities. Severe spinal curvature or a concave chest, for instance, may restrict
your breathing and cause you to feel short of breath during mild or moderate activity. People with
Marfan syndrome are also at higher risk of:
  Emphysema
 Chronic obstructive pulmonary disease
 Collapsed lung
 Sleep apnea

Complications of pregnancy
Women with Marfan syndrome face possible complications during pregnancy. The main threat is
a rapid increase in the size of your aorta, leading to life-threatening aortic dissection or rupture.
Although the risk of dissection during pregnancy is unpredictable, it's generally low if your aorta
isn't enlarged before you become pregnant. But if your aorta is even slightly enlarged, the risk
increases greatly. Pregnancy isn't recommended if your aorta is enlarged.

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 disorders

 An ophthalmologist, a doctor who specializes in eye disorders
 An orthopedist, a doctor who specializes in bones
 A geneticist, a doctor who specializes in genetic disorders

Appointments can be brief. To make the best use of the limited time, plan ahead and write lists of
important information, including:

 Detailed descriptions of all your symptoms

 A list of all your medications and dosages, including nonprescription drugs and
supplements
 Questions for the doctor, such as what tests or treatments he or she may recommend

What to expect from your doctor

The examinations will vary depending on the type of specialist you're seeing. For example, a
cardiologist will listen carefully to your heart while an ophthalmologist may dilate your pupils to
check the insides of your eyes. 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 death

Tests and diagnosis

Marfan syndrome can be challenging for doctors to diagnose because many connective tissue
disorders have similar symptoms. And Marfan symptoms vary widely — both in their features
and in their severity — even among members of the same family.

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 Marfan symptoms, but not enough of
them to be diagnosed with the disorder.

Diagnostic tests may include:

  Echocardiogram. This test is a sonogram of your heart. It uses sound waves to capture
real-time images of your heart in motion. Echocardiograms are particularly good at telling
how well your heart chambers and valves are working. To better visualize your aorta, your
doctor may recommend a transesophageal echocardiogram — in which the sound waves
are generated from within your body by a device threaded down your esophagus.
 Electrocardiogram (ECG or EKG). An ECG checks for heart rhythm problems, using
adhesive electrodes attached to your chest.
 MRI or CT scans. These tests can help your doctor examine your aorta. MRIs use a
strong magnet and radio waves to visualize soft tissues inside your body. A CT scan uses a
special dye that can be seen on X-rays. The dye is injected into your vein, to produce
images of your aorta.
 Slit-lamp exam. This eye 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 eyedrops are usually used
before this test.
 Genetic testing. Presently, there's no genetic test that can definitely establish or rule out
a diagnosis of Marfan syndrome. However, you may want to consider genetic testing and
genetic counseling before starting a family, to see what your chances are of passing on
Marfan syndrome to your future children.

Treatments and drugs

In the past, people with Marfan syndrome usually died of heart problems in their early 30s.
Treatments to prevent aortic ruptures now allow many people with Marfan syndrome to live into
their 70s.

While no treatment exists for Marfan syndrome itself, therapy focuses on preventing the various
complications of the disease. For that reason, the treatment you receive will depend on the nature
and severity of your symptoms.

Cardiovascular problems
The cardiovascular complications association with Marfan syndrome can be life-threatening, so
doctors typically recommend an annual heart exam.

Two main approaches exist for treating cardiovascular complications:

 Medications. Doctors often prescribe blood pressure lowering drugs to help prevent the
aorta from enlarging and to reduce the risk of dissection, even though your blood pressure
may be normal. The most commonly used drugs are beta blockers, which cause your heart
to beat more slowly and with less force and reduce your risk of aortic dissection and
rupture.

If you can't tolerate the side effects of beta blockers, your doctor may prescribe an
angiotensin-converting enzyme inhibitor, angiotensin receptor blocker or calcium channel
blocker instead. Children often receive the same medications as adults.

 Surgery. If your aorta's diameter enlarges quickly or reaches a dangerous size —

usually around 2 inches (5 cm) — 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. Some people with
Marfan syndrome may require multiple operations.

Skeletal problems
Many of the skeletal problems that affect people with Marfan syndrome also occur in the general
population and are treated the same way. They include:

 Scoliosis. For some children and adolescents, doctors recommend a custom-made back
brace, which is worn nearly continuously until growth is complete. Although a brace can't
permanently straighten the spine, it may help stop spinal curvature from becoming worse.
If the curve in your child's spine is too great, a brace may not be effective and your doctor
may suggest surgery to straighten the spine.
 Concave chest. When a concave chest affects your child's breathing, surgery may be an
option. The operation consists of raising the sternum and ribs and holding them in place. A
convex chest doesn't cause functional problems, but it may be a cosmetic concern and can
also be corrected surgically.

Eye problems
Because of the eye problems that can occur with Marfan syndrome, doctors usually recommend
an annual eye exam for people with the disease. These problems include:

 Dislocated lens. In younger children, a dislocated lens can be treated effectively with
glasses or contact lenses that refract around or through the lens. Adolescents who find
glasses cosmetically unacceptable or their visual field too restricted may be candidates for
a type of intraocular lens implant.
 Glaucoma. While glaucoma can't be cured, the disease can be controlled with early
detection and treatment. Eyedrops, oral medications and surgical procedures can prevent or
slow further damage.
 Cataracts. Surgery to replace your clouded lens with an artificial lens is usually very
successful at improving vision damaged by cataracts. You may want to consider cataract
surgery once vision loss begins to interfere with everyday activities.
 Retinal detachment. In most cases, eye surgeons can repair sections of the retina that
have torn or detached

Lifestyle and home remedies

Depending on your risk of heart, eye or skeletal complications, your doctor may recommend that
you avoid competitive sports and certain recreational activities.

High risk

 Weightlifting
 Ice hockey
  Football
 Rock climbing
 Surfing
 Scuba diving

Medium risk

 Basketball
 Racquetball
 Squash
 Running
 Skiing
 Singles tennis
 Touch football
 Soccer
 Baseball
 Biking
 Lap swimming

Low risk

 Bowling
 Golf
 Skating
 Snorkeling
 Brisk walking
 Modest hiking
 Doubles tennis

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.

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 easily be corrected with glasses or contact lenses. And difficulty with handwriting, a
fine-motor skill, can be remedied by allowing students to use laptop computers in the classroom
or by giving them more time on handwritten assignments.

For most young people, though, 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; and 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.