Know the basics

What is Marfan syndrome?

Marfan syndrome is a serious condition where your body’s connective tissues are unable to function properly. They lack strength, thus some complications can be potentially life-threatening.  Although there is no cure for Marfan syndrome, advances in medical care are helping people live a normal lifespan.  And that is why early and accurate diagnosis is so important, not only for people with Marfan syndrome, but also for those with related disorders.

Marfan syndrome is an inherited disorder that affects connective tissue – the fibers that support and anchor your organs and other structures in your body. For people with Marfan syndrome, the connective tissue lacks strength due to its abnormal chemical makeup. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.

How common is Marfan syndrome?

Marfan syndrome is fairly common, affecting 1 in 10,000 to 20,000 people. It has been found in people of all races and ethnic backgrounds.

Know the symptoms

What are the symptoms of Marfan syndrome?

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.

Marfan syndrome features may include:

  • Tall and slender build
  • Disproportionately long arms, legs and fingers
  • 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

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

  • 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.
  • 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.
  • 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.

Eye complications may include:

  • Lens dislocation.
  • Retinal problems.
  • Early-onset glaucoma or cataracts.
  • Skeletal complications.

Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It can also 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.

If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you think that you or your child may have Marfan syndrome, talk to your doctor or pediatrician. It is always best to discuss with your doctor what is best for your situation.

Know the causes

What causes marfan syndrome?

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.

Know the risk factors

What increases my risk for Marfan syndrome?

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.

Understand the diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Marfan syndrome diagnosed?

If the disease is suspected, the doctor will perform a thorough physical exam of the eyes, heart and blood vessels, and muscle and skeletal system, obtain a history of symptoms and information about family members that may have had the disorder, to determine if you have it.

Other tests are used to diagnose this condition include:

  • Chest X-ray
  • Electrocardiogram
  • Echocardiogram
  • Slit-lamp exam
  • Eye pressure test

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.

How is Marfan syndrome treated?

Individuals who have Marfan syndrome are treated by a multidisciplinary medical team that includes a geneticist, cardiologist, ophthalmologist, orthopedist and cardiothoracic surgeon.

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you’ll need to be checked regularly for signs that the damage caused by the disease is progressing.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Marfan syndrome?

The following lifestyles and home remedies might help you cope with Marfan syndrome:

  • Most people with Marfan syndrome can participate in certain types of physical and/or recreational activities. Those with dilation of the aorta can’t practice high intensity team sports, contact sports, and isometric exercises (such as weight lifting).
  • Pregnancy. Genetic counseling should be performed prior to pregnancy because Marfan syndrome is an inherited condition. Pregnant women with Marfan syndrome are also considered high-risk cases. If the aorta is normal size, the risk for dissection is lower, but not absent. Those with even slight enlargement are at higher risk and the stress of pregnancy may cause more rapid dilation.
  • Endocarditis prevention. People with Marfan syndrome who have heart or valve involvement or who have had heart surgery may be at increased risk for bacterial endocarditis. This is an infection of the heart valves or tissue which occurs when bacteria enters the blood stream.
  • Emotional considerations. Being diagnosed and learning to live with a genetic disorder can cause social, emotional, and financial stress. It often requires a great deal of adjustment in outlook and lifestyle.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 4, 2017 | Last Modified: January 4, 2017

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