Marfan syndrome: The defect of connective tissue

What Is Marfan Syndrome?

Marfan Syndrome

Marfan syndrome is a condition some people are born with. This condition affects a protein in the body that helps build healthy connective tissues. Connective tissues support the bones, muscles, and organs in your body and allow your skin, blood vessels, and ligaments to stretch.

People who have Marfan syndrome may be tall and thin and have long arms, legs, fingers, and toes, as well as flexible joints. The most serious problems happen when the condition affects the heart and blood vessels.

How do you get Marfan syndrome?

Marfan syndrome is a condition you are born with. It is caused by a mutations, or change, in a genes, called the fibrillin-1 (FBN1) gene. The FBN1 gene makes fibrillin-1, which is a protein that forms elastic fibers within connective tissue to support your bones, muscles, and organs. Fibrillin-1 also affects levels of another protein that helps control how you grow.

Most people who have Marfan syndrome get it from their parents. Sometimes, the mutation that causes Marfan syndrome is not passed down from a parent but happens by chance while the unborn baby is growing.

How do parents pass on Marfan syndrome to their children?

When a parent has Marfan syndrome, there is a 50% chance that their child will have it. Every child receives two FBN1

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 genes, one from each parent. Children who get an FBN1 gene with a mutation from one parent will have Marfan syndrome even if the other parent passes on a normal FBN1 gene.

Symptoms

Symptoms of Marfan syndrome depend on which parts of the body are affected and how severe the condition is. Some people have few or no symptoms, while others experience severe symptoms or life-threatening complications.

Some symptoms of Marfan syndrome may be visible to others:

  • A chest that sinks in or sticks out
  • A long head with deep-set eyes
  • A tall, thin body
  • Flat feet
  • Flexible joints
  • Long arms, legs, fingers, and toes

Other symptoms of Marfan syndrome are less obvious on the outside.

  • Eye problems include blurred vision or trouble seeing things that are far away, are often the first sign of Marfan syndrome. These can be caused by the lens in one or both eyes moving out of place.
  • Heart palpitations are what you feel when the heart is skipping a beat, fluttering, pounding, or beating too hard or too fast.
  • A heart murmur is an unusual sound between heartbeats that only your doctor can hear.
  • Pain can occur in different parts of the body, particularly in the lower back.
  • Scoliosis is a condition marked by the curving of the spine to one side.
  • Stretch marks not caused by weight gain or loss may appear on the skin. These stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and stomach area.
  • Teeth that become too crowded or weak are more likely to break or have cavities.

Diagnostic tests and procedures

Your doctor may recommend one or more of the tests below to help diagnose Marfan syndrome.

  • Lung imaging tests, such as a chest CT scan and chest MRI, create pictures of the organs and blood vessels in your chest. A chest CT scan may also check the connective tissue around your spinal cord.
  • Echocardiography (echo) views and measures the size of your aorta and checks the heart’s valves.
  • Genetic testing uses blood tests to detect mutations in the FBN1 genes, even if you have no symptoms. Many different mutations within the FBN1 gene can cause Marfan syndrome, so no single blood test can diagnose the condition.
  • A slit-lamp exam finds out whether you have an eye lens that is out of place, cataracts, or a detached retina. An eye specialist or ophthalmologist uses the slit lamp, a microscope with a light, to check your eyes.
Treatment

Medicines

Your provider may recommend blood pressure medicines to relieve any strain on or bulging of the aorta. These medicines help your heart beat slower and with less force. The most common are beta blockers or angiotensin receptor blockers (ARBs). Side effects of these medicines may include feeling tired, lightheaded, or sick in your stomach.

If you can’t tolerate the side effects from beta blockers or ARBs, your provider may prescribe calcium channel blockers or angiotensin converting enzyme (ACE) inhibitors.

Surgery to repair the aorta or heart valves

If your aorta is larger than normal, your provider may recommend surgery to repair or replace part of the aorta to prevent it from rupturing or tearing open. If you have an aortic dissection, which is a tear in the inner layer of the blood vessel’s wall that allows blood to flow between the layers, or if the aorta ruptures or completely tears, you will need emergency surgery to repair the aorta.

Your aortic valve may also be replaced with a mechanical valve or valve made from animal tissue. The valve may be replaced during an open surgery to repair the aneurysm.

If you have mitral regurgitation — which occurs when your blood flows backward into your left atrium — your provider may recommend surgery to repair or replace your mitral valve.

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Other surgeries and procedures

Your provider may also recommend surgery for other reasons:

  • Repair severe scoliosis with a brace or other device to prevent the condition from getting worse
  • Prevent a chest that sinks in or sticks out from pressing on the lungs and heart
  • Repair a collapsed lung
  • Fix a dislocated lens or detached retina in the eye

Source: https://www.nhlbi.nih.gov/health/marfan-syndrome

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