What is marfan syndrome?


What is marfan syndrome?

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

Connective tissues are the fibers that help to provide support and structure to other tissue and organs.

The effects of Marfan syndrome range from mild to life-threatening. The most serious complications include damage to the heart valves or the aorta, or both. It has no impact on intelligence, and it does not affect the patient's cognitive abilities.

The condition is named after Antoine Marfan, who first described the syndrome in 1896, after observing distinctive features in a 5-year-old girl. The gene that is linked to the syndrome was identified in 1991.

Marfan affects 1 in every 3,000 to 5,000 people

It is a genetic and mainly an inherited condition.

There is no cure, but therapy can improve the patient's quality of life.

Signs and symptoms of Marfan syndrome

People with Marfan syndrome tend to be tall and slim, with long, slender fingers.

As Marfan syndrome can affect varying parts of the body, it has no unique signs and symptoms, so diagnosis depends on looking at the overall picture. Different people will have different symptoms.

Symptoms may show in the skeleton, the eyes, and the cardiovascular system. In some people, symptoms are mild and limited to certain body parts. In others, they are severe and affect several body parts. They tend to worsen with age.

Signs and symptoms that may appear in the skeletal system, including bones and teeth, are:

  • Long limbs with thin and weak wrists
  • Stooped shoulders
  • Very long and slender fingers and toes, or both
  • Hammer toes
  • 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 that feature with Marfan syndrome often mean that the person's arm-span is longer than their height.

There is a higher risk of developing scoliosis, or curvature of the spine, spondylolisthesis, and dural ectasia. Dural ectasia is the widening or ballooning of the dural sac, which surrounds the spinal cord.

Problems related to the eyes include myopia, or nearsightedness, astigmatism, dislocation of the lens and detached retina. Marfan syndrome may also lead to early onset glaucoma and cataracts.

The impact on the cardiovascular system can lead to:

  • Undue fatigue
  • Shortness of breath
  • Palpitations or heart murmur
  • Angina, with pain in the chest radiating to the back, shoulder or arm
  • Prolapse of the heart valves, including the aorta
  • Dilated aorta
  • Aortic aneurysm

During pregnancy, a woman may be at risk of aortic dissection, or a tear in the wall of the aorta.

Symptoms may not appear until later in life.

What causes Marfan syndrome?

Marfan syndrome is a genetic condition. It is either passed down through families, or it happens when there is a faulty gene in a parent's sperm or egg.

Most people with this syndrome inherit it from a parent. A parent with the condition has a 50 percent chance of passing it on to their child, but 25 percent of patients have no parent with the condition.

The gene that carries Marfan syndrome is called FBN1. FBN1 encodes a connective protein called Fibrillin-1. This protein helps to give connective tissue its elasticity and strength.

Without elasticity in the connective tissue, it is difficult for the body to move and flex. Without strength, the connective tissue cannot support the organs and various body parts.

The defective gene in Marfan stops the body from producing Fibrillin-1.

How is Marfan syndrome diagnosed?

As signs and symptoms can vary widely, diagnosis may be challenging.

The physician will ask about the patient's family and medical history, and they will listen to the patient's heart, check the skin for stretch marks, and look at the length and features of the patient's arms, legs, fingers, and toes.

Other conditions with overlapping symptoms, such as Ehlers-Danlos syndrome or Beals syndrome need to be ruled out.

The doctor may refrain from giving a diagnosis in a child until they become a teenager, as signs and symptoms will then be clearer.

Diagnostic tests that may be used include:

  • 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
  • Imaging scans, such as CT or MRI, can be used to check the lower back for signs of dural ectasia.

Treatment for Marfan syndrome

Marfan syndrome is incurable, but treatment can alleviate symptoms and minimize or prevent possible complications.

The doctor will develop an individualized treatment program. The details will depend on which body parts and systems are affected.

Monitoring of ocular and cardiovascular health can help to prevent complications.

Regular monitoring can help to prevent problems with the skeletal system, bones, and joints, by monitoring any changes in the spine or sternum, especially if the patient is a child and is still growing.

If abnormalities are not treated promptly, they can undermine the proper functioning of the heart and lungs. If necessary an orthopedic brace, or even surgery may be needed.

Regular eye checks can ensure that any vision problems are detected and treated immediately. According to the National Marfan Foundation, most eyesight problems can be corrected with spectacles and lenses. Some patients may need corrective surgery.

Since Marfan can affect the cardiovascular system, the blood vessels, and the heart, these will need regular monitoring. Early detection and treatment of problems in the aorta and heart function can prevent complications.

Beta-blockers may be prescribed for heart valve problems. Sometimes surgery is needed to repair the aorta or replace a heart valve. Prompt surgical intervention is an important preventive measure against possible aortic dissection, which is a tear or rupture of the wall of the aorta.

The Marfan Foundation advises patients with heart problems to wear a medical alert bracelet and to go straight to hospital if any chest, back, or abdominal pain is felt.

Marfan syndrome can affect the central nervous system (CNS). Dural ectasia is when the covering of the spinal cord becomes inflamed. In this case, the patient may need medication to treat the pain.

Physical activity should be approached with caution. As people with Marfan syndrome tend to be tall, they may be encouraged to join sports teams. This may be dangerous if the sport involves physical contact. It is important to ask a physician what sports are suitable.

Marfan Syndrome. Symptoms (Video Medical And Professional 2020).

Section Issues On Medicine: Medical practice