Description

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 slim with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If the aorta, the large blood vessel that carries blood from the heart to the rest of your body is affected, the condition can be fatal.

Treatment usually includes medications to keep your blood pressure low to reduce the pressure in the aorta. The Regular monitoring to check the progression of damage is of vital importance. Many people with Marfan syndrome require surgery for the preventive repair of the aorta.

Symptoms

The signs and symptoms of Marfan syndrome vary widely, even among members of the same family, because the disorder can affect many different areas of the body. Some people experience mild effects, but others develop life-threatening complications.

Marfan syndrome features may include:

  • Tall and slender of build
  • Disproportionately long arms, legs, and fingers
  • A sternum, which protrudes towards the outside or towards the inside of holes
  • High, arched palate and crowded teeth
  • Heart murmurs
  • Extreme nearsightedness
  • An abnormal curvature of the spine
  • Flat feet

When to see a doctor

If you think that you or your child may have Marfan syndrome, talk with your doctor or pediatrician. If your doctor suspects a problem, it'll most likely be referred to a specialist for further evaluation.

Causes

Marfan syndrome is caused by a defect in the gene that allows 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 one parent who has the disorder. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In approximately 25% of the people who have Marfan syndrome, the abnormal gene from both parents. In these cases, a new mutation develops spontaneously.

Risk factors

Marfan syndrome affects males and females equally, and occurs among all races and ethnic groups. Because it is a genetic condition, is a major risk factor for the Marfan syndrome is to have a parent with the disease.

Complications

Because Marfan syndrome can affect almost any part of your body, it can cause a variety of complications.

Cardiovascular complications

The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Defective connective tissue can weaken the aorta, the large artery that arises from the heart and supplies blood to the body.

  • Aneurysm of the aorta. The pressure of the blood that comes out of your heart can cause the wall of the aorta to bulge like a weak spot in a tire. In people who have Marfan syndrome, this is most likely to occur in the root of the aorta — where the artery that comes out of your heart.
  • The aortic dissection. The wall of the aorta is composed of layers. The dissection occurs when a small tear in the innermost layer of the aortic wall allows blood to squeeze between the inner and outer layers of the wall. This can cause severe pain in the chest or on the back. An aortic dissection weakens the structure of the ship and may result in a rupture, which can be fatal.
  • Valve malformations. People who have Marfan syndrome may have a weak tissue in their heart valves. This can lead to a stretching of the valve tissue and abnormal function of the valve. When the heart valves don't work properly, your heart often has to work harder to compensate. This can eventually lead to heart failure.

Eye complications

Eye complications may include:

  • Dislocation of the lens. The focus lens inside your eyes you can move out of place if support structures are weakened. The medical term for this problem is ectopia lentis, and occurs in more than half of the people who have Marfan syndrome.
  • The problems of the retina. Marfan syndrome also increases the risk of detachment or tear in the retina, the light-sensitive tissue that lines the back wall of the eye.
  • The early onset of 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 is normally clear lens.

Bone complications

Marfan syndrome increases the risk of abnormal curves of the spine, such as scoliosis. It can also interfere with the normal development of the ribs, which can cause the sternum to protrude or are recessed in the chest. Foot pain and lower back pain are common with Marfan syndrome.

Complications of pregnancy

Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During pregnancy, the heart pumps more blood than usual. This can put additional stress on the aorta, which increases the risk of a deadly dissection or rupture.

Diagnosis

Marfan syndrome can be difficult 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 to be diagnosed with the disorder.

Heart tests

If your doctor suspected Marfan syndrome, one of the first tests that he or she can recommend is an echocardiogram. This test uses sound waves to capture real-time images of your heart in motion. Checks the status of the valves of the heart and the size of the aorta. Other heart image options include computed tomography (CT) and magnetic resonance imaging (MRI).

If you are diagnosed with Marfan syndrome, you will need to have regular imaging tests to monitor the size and condition of the aorta.

Eye examinations

Vision tests that may be necessary include:

  • Slit-lamp examination. This test checks dislocation of the lens, cataracts, or retinal detachment. Their eyes need to be completely dilated with eye drops, for this test.
  • The eyes of the pressure test. To check for glaucoma, your eye doctor can measure the pressure in the interior of the eyeball by touching with a special tool. Numbing drops are generally used before this test.

Genetic testing

Genetic testing is often used to confirm the diagnosis of Marfan syndrome. If a Marfan mutation is found, the members of the family can be tested to see if they are also affected. You may want to talk with a genetic counselor before starting a family, to see what your chances of passing the Marfan syndrome to your future children.

Treatment

While there is no cure for Marfan syndrome, the treatment focuses on the prevention of the different complications of the disease. To achieve this, you will need to be reviewed periodically to detect signs of the damage caused by the disease is progressing.

In the past, the people who have Marfan syndrome often died young. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life.

Drugs

Doctors often prescribe blood pressure lowering medications to help prevent the aorta to expand and reduce the risk of dissection and rupture.

Therapy

The vision problems associated with a dislocation of the lens in the eye can often be corrected with glasses or contact lenses.

Surgical and other procedures

Depending on your signs and symptoms, the procedures may include:

  • Aortic repair. If the aortic diameter reaches about 2 inches (50 mm) or if it enlarges rapidly, your doctor may recommend an operation to replace a portion of the aorta with a tube made of synthetic material. This may help to prevent life-threatening rupture. The aortic valve may need to be replaced as well.
  • The treatment of scoliosis. When there is a scoliosis, a consultation with a spine of experts is necessary. Orthopedics and surgery are necessary in some cases.
  • Sternum corrections. The surgical options available to correct the appearance of a sunken or protruding breastbone. Because these operations are often considered for cosmetic purposes, your insurance may not cover the costs.
  • Eye surgeries. If parts of the retina have been broken or loose from the back of your eye, the surgical repair is usually successful. If you have cataracts, your clouded lens can be replaced with an artificial lens.

Lifestyle and home remedies

You may have to avoid competitive sports and certain recreational activities if you are at high risk of dissection or aortic rupture. Increases in blood pressure, which is common in activities such as weightlifting, the more pressure in the aorta. Less intense activities such as brisk walking, bowling, doubles tennis or golf are generally safer.

Coping and support

Living with a genetic disorder that can be extremely difficult, both for adults and children. Adults may wonder how the disease affects 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 more difficult in the young, especially because it is often inherent to the self-awareness of the childhood and adolescence may be exacerbated by the disease's effect on the appearance, academic performance and motor skills.

Helping children cope

Working together, parents, teachers, and medical professionals can provide children with both emotional support and practical solutions to some of the most distressing aspects of the disease. For example, children with Marfan syndrome may have difficulties in school due to vision problems that can be corrected with glasses or contact lenses.

For the majority of young people, cosmetic concerns are at least as important as the academic. Parents can help to anticipate these problems and offer solutions, such as:

  • Contact lenses instead of glasses
  • A brace for scoliosis
  • The Dental work for crowded teeth
  • Clothes that flatter a tall man with a thin frame

Support groups

People who have Marfan syndrome often find it helpful to talk with other people who face similar challenges. Marfan syndrome Foundation provides a variety of on-line support services.

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 the heart and blood vessel disorders
  • An ophthalmologist, a medical doctor who specializes in disorders of the view
  • An orthopedic specialist, a doctor who specializes in the structural problems of the skeleton
  • A geneticist, a doctor who specializes in genetic disorders

To make the best use of the time of the appointment, plan for the future and have important information available, including:

  • Detailed descriptions of all of your symptoms
  • The details of your medical history, including any previous surgeries
  • Recent X-ray and echocardiogram reports, which often can be sent electronically
  • A list of all your medicines and supplements

What to expect from your doctor

All the doctors we want to hear about your specific symptoms, and if someone in your family has had Marfan syndrome, or the experience of early, unexplained heart-related disability or death.

Symptoms and treatment of Marfan syndrome