Marfan syndrome: What to know

Marfan syndrome is a genetic condition that affects connective tissues. It may affect various parts of the human body including the heart , blood vessels, lungs , skin, bones , joints and eyes.

Connective tissues are complex structures which assist in supporting other tissues and organs.

Marfan syndrome has symptoms ranging from mild to life-threatening. The most serious complications include heart valve damage, aorta damage or both. It doesn’t affect cognitive ability.

This is primarily an inherited disorder , affecting 1 in every 5,000 people.

There is no remedy, but treatment can improve a person with the condition’s quality of life, and avoid potentially dangerous complications. Timely treatment can mean a person with Marfan syndrome has the same life expectancy as a person without the condition.

Important facts about Marfan syndrome

  • Marfan syndrome is a genetic condition that can cause a wide variety of heart, eye, and skeletal problems.
  • Symptoms often include unusually long arms and fingers, advanced height, and tears in the aorta. They may not become noticeable until adulthood.
  • The condition is caused by limitations in a gene that strengthens the connective tissue.
  • There is no cure for Marfan syndrome, but symptoms can be managed and relieved.
  • A person with Marfan syndrome can have a normal life expectancy when the correct preventive measures are taken.

Symptoms

People with Marfan syndrome often have elongated fingers and hands.
People with Marfan syndrome often have elongated fingers and hands.

Since Marfan syndrome can affect different parts of the body, the symptoms can vary greatly between individuals.

People with Marfan syndrome, however, typically have a special physical structure.

We also experience tears in the aorta, or the large blood vessel that leads from the heart, and widen.

Various people with Marfan syndrome will exhibit different symptoms.

Symptoms can occur in the cardiovascular system, the heart, eyes and. Symptoms are mild in some people, and are limited to certain parts of the body. These are serious in some, and affect many parts of the body. Marfan symptoms continue to get worse with age.

Signs and signs present in the skeletal system include:

  • long limbs with thin and weak wrists
  • stooped shoulders
  • very long and slender fingers and toes, or both
  • the sternum, or breastbone, protrudes or caves in
  • extremely flexible joints
  • long and narrow face
  • small bottom jaw that may cause speech disorders
  • overcrowded teeth
  • slim body and taller than average height
  • flat feet
  • high palate that may cause speech disorders
  • stretch marks on the skin not due to pregnancy or weight gain
  • pain in the joints, bones, and muscles

The long limbs unique to Marfan syndrome often mean the individual’s arm span is longer than the individual’s height.

There is an increased chance that spine, spondylolisthesis, and dural ectasia may experience scoliosis, or curvature. Dural ectasia is the widening or ballooning of the dural sac that surrounds the spinal cord.

Problems related to the eyes include:

  • nearsightedness
  • astigmatism
  • dislocation of the lens
  • detached retina

Marfan syndrome may also lead to early-onset glaucoma and cataracts.

The aortic irregularities in Marfan syndrome can lead to the following cardiac issues:

  • fatigue
  • shortness of breath
  • palpitations or heart murmur
  • angina, with pain in the chest spreading to the back, shoulder or arm
  • prolapse of the heart valves, including the aorta
  • dilated aorta
  • aortic aneurysm

Symptoms of Marfan syndrome may not appear until later in life.

Causes

Marfan syndrome is caused by either a hereditary or random mutation in a person’s genetic code.
Marfan syndrome is caused by either a hereditary or random mutation in a person’s genetic code.

Marfan syndrome is a genetic condition. It is either passed down through families or happens due to a randomly occurring faulty gene in a sperm or egg.

Most people suffering from this syndrome inherit it from a relative. A parent with the condition has a 50 percent chance of passing it on to his or her child, but 25 percent of patients do not have a parent. That is called spontaneous mutation.

The gene carrying Marfan syndrome is known as FBN1. FBN1 contains a protein called Fibrillin-1, which gives elasticity and strength to the connective tissue.

Without these properties in the connective tissue the body may have trouble moving and flexing. The connective tissue would become less able to sustain the organs and various parts of the body.

Marfan’s defective gene stops the production of Fibrillin-1 and results in elevated levels of a protein called cytokine, which can then lead to inflammation and scarring.

Diagnosis

Diagnosing Marfan syndrome can be challenging, given the range of symptoms.

The physician will:

  • ask about the patient’s family and medical history
  • listen to the patient’s heart
  • check the skin for stretch marks
  • look at the length and features of the patient’s arms, legs, fingers, and toes

Certain problems with similar symptoms need to be ruled out, such as Ehlers-Danlos syndrome or Beals syndrome.

The doctor is not allowed to treat a child until they are a teen. Symptoms and signs then become clearer.

To validate the diagnosis a doctor can use the following tests:

  • echocardiogram to check the state of the heart, valves, and the aorta
  • electrocardiogram (ECG) to check heart rate and rhythm
  • slit lamp eye exam, to check for dislocated lenses
  • CT or MRI scans can be used to check the lower back for signs of dural ectasia.
  • genetic testing may sometimes be recommended

Treatment

Marfan syndrome doesn’t get treated. Treatment, however, will relieve the symptoms and mitigate or avoid possible complications.

The doctor will develop a personalized treatment program. The specifics can depend upon the parts and structures of the affected body.

Regular monitoring can help avoid bone, joint and tissue disorders by early identifying any changes in the spine or sternum. If the person with Marfan syndrome is a child and still developing, this can be particularly helpful.

Delayed treatment may undermine functioning of the heart and lungs. It may require an orthopedic brace, or even surgery.

Daily eye checks can allow for prompt diagnosis and treatment of any vision issues. Many eyesight problems with spectacles and lenses can be fixed according to the National Marfan Foundation. Some patients may need corrective surgery.

It will require daily monitoring of the blood vessels and the heart. Complications can be avoided by early diagnosis and treatment of heart and aorta problems.

Beta-blockers may be prescribed for problems with the heart valve and to reduce pressure within the aorta. Operation is often needed to repair the aorta, or to remove a heart valve. An important preventive measure against potential aortic dissection, a severe tear or rupture of the aortic wall, is prompt surgical intervention.

The Marfan Foundation recommends patients with heart issues to wear a medical warning bracelet and if they feel any chest, back, or abdominal pain, go straight to hospital.

Dural ectasia can affect the central nervous system ( CNS) as can occur with Marfan syndrome. The patient may need medication in these situations for treating the pain.

Outlook

It is recommended that people with Marfan syndrome not to take part in high-intensity contact sports. Sports, such as bowling or golf, which do not require physical collisions or extreme exertion are permitted.

It’s best to ask your doctor what sports are acceptable and healthy.

Josephine Grima, PhD, Chief Science Officer of the Marfan Foundation, advises:

“The advancement of basic knowledge and treatment of Marfan syndrome has made great strides. As a result, if diagnosed and seeking appropriate medical treatment, people with Marfan and related disorders will live a normal lifespan.

Visit the Marfan Foundation web site for assistance , support, and research information.

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