Marfan Syndrome

A genetic disorder that negatively affects the connective tissue that holds the body together is called Marfan syndrome (MFS). People who develop it usually need a healthcare team to manage it. With close monitoring and treatments, people can live a healthy life.

Normally, the connective tissue provides strength and flexibility to multiple structures in the body. However, in people with this genetic condition, they become too loose and elastic. That’s why it negatively affects several body systems, including the heart, blood vessels, eyes, bones, and joints. Moreover, this condition is present at birth, but you may not get the diagnosis until your teen years or even early adulthood. In addition, Marfan syndrome is one of the most common inherited connective tissue disorders that affects about 1 in 3,000 to 5,000 people. It is about 0.02% to 0.03% of people worldwide.

Symptoms

In general, there are 2 primary features of Marfan syndrome. These include aortic root aneurysm (widening or bulging of the aorta near the aortic valve) and dislocated eye lens (also known as ectopia lentis). However, people with this condition often have different symptoms that vary in severity and when they start. Check below some additional symptoms that may occur due to the 2 previous problems:

• Dyspnea (shortness of breath)
• Eye pain
• Vision problems (such as astigmatism and extreme nearsightedness)
• Fast or hard heartbeats
• Heart palpitations

However, MFS may also affect other parts of the body and cause symptoms. Check some physical features of this genetic disease below:

• Scoliosis (curved spine)
• Flat feet)
• Long and narrow face
• Crowded teeth
• Arms, legs, fingers, and toes that seem too long for the rest of the body
• Weak joints that easily become dislocated
• Sunken chest (pectus excavatum) or protruding chest (pectus carinatum)
• Tall and thin body build
• Stretch marks (even without weight changes)

If you or your child experiences any of the previous symptoms, immediately contact your healthcare provider.

Causes

This condition occurs due to a mutation in the gene called fibrillin-1 or FBN1 that is responsible for giving instructions to produce Fibrillin. This is a vital protein that is the primary component of elastic fibers in the connective tissue. Most of the time, people develop Marfan syndrome because get the abnormal gene from one of their biological parents during pregnancy. In other words, this disease has an autosomal dominant inheritance. Furthermore, those who have this condition have about 50% of passing the disease to their children in the future. However, in about 25% of newly diagnosed cases, the cause is unknown.

What Are The Long-term Effects of Marfan Syndrome?

People who develop MFS may also experience multiple complications because it affects several parts of the body. While most people have cardiovascular problems, they may also experience other complications. Check some examples below:

• Aortic dissection – It is a tear in the inner layer of the aorta’s wall.
• Heart valve disease
• Enlarged heart, which may cause the heart muscle to become enlarged and weaken over time.
• Arrhythmia (irregular heart rhythm related to mitral valve prolapse)
• Brain aneurysms – This is a bulge in a weak area of the blood vessel located in or around the brain.
• Cataracts
• Glaucoma
• Retinal detachment
• Pneumothorax (collapsed lung)
• Pneumonia
• Emphysema
• Bronchitis
• Asthma
• Chronic obstructive pulmonary disease (COPD)

This document does not contain a complete list of MFS complications. However, you can talk with your doctor about ways to reduce the risk or even prevent them. In addition, there is no way to prevent this condition because most of the time, people get the abnormal gene from their biological parents. The only thing you can do is a genetic test to make sure you do not have this gene. Generally, it is very important to understand the risks of having children with Marfan syndrome.

Diagnosis

In most cases, the diagnosis of MFS begins with a physical examination to check for signs of the disease. Doctors may also ask some questions about your family history and symptoms. However, to confirm or rule out this genetic condition, doctors use specific criteria known as Ghent nosology. Check some tests used during MFS diagnosis below:

• MRI (magnetic resonance imaging) scans
• Echocardiogram
• Electrocardiogram (ECG or EKG) – This is a quick and painless test used to measure the electrical activity of the heart.
• Chest X-ray
• CT (computerized tomography) scans
• Genetic tests – To perform this test, doctors will take a blood sample. It is used to check for the abnormal gene that causes MFS. Sometimes, doctors may also check for other genetic disorders that cause similar symptoms, such as Loeys-Dietz syndrome.

Treatment

Unfortunately, there is no way to cure this condition. That’s why the treatment goal is to relieve the symptoms and improve your quality of life. Physicians often recommend medicines, routine monitoring, physical activity guidance, and surgery.

Medicines

The following medicines are often used to manage complications of MFS. For example:

• Beta-blockers – This group of medicines is often used to prevent or slow down the enlargement of the aorta. Sometimes, doctors may also prescribe calcium channel blockers for people with asthma and other adverse reactions to beta-blockers.
• Angiotensin II receptor blockers (ARBs) – These medications also help reduce the enlargement of the aorta in people with Marfan syndrome. However, ARBs are often prescribed when beta-blockers do not work.

Monitoring

Routine medical appointments include monitoring of the heart, blood vessels, eyes, and skeletal system. They may also perform imaging tests to get detailed images of the previous body systems and organs.

Physical Activity Guidance

You should not perform intense physical activity. Usually, physical therapists help people with MFS find exercises and sports safe for them. Most of the time, doctors recommend low to moderate intensity exercise. In general, you should avoid activities that involve the Valsalva maneuver, contact sports, exercise to exhaustion, and isometric exercise (such as wall sits and planks).

Heart Surgery

This treatment is often prescribed by doctors to prevent dissection of the aorta or to treat heart valve problems. Check below for the most common surgeries and procedures used in people with MFS:

• Aortic valve repair or replacement
• Ascending aortic aneurysm repair
• Thoracic endovascular aortic repair
• Mitral valve repair or replacement

Frequently Asked Questions

What is the life expectancy of someone with Marfan syndrome?

With modern medical care, a lot of people live into their 70s or even longer. Those who do not get treatment have a shorter lifespan (around 32 to 45 years).

What are the symptoms of Marfan syndrome?

These include:

• Scoliosis
• Sunken or protruding chest
• Flat feet
• Eye problems
• Tall and thin body build

If any of the previous symptoms occur, immediately visit a doctor.

What can be mistaken for Marfan syndrome?

The symptoms of MFS resemble other health conditions. Some of them include arterial tortuosity syndrome (ATS), ectopia lentis syndrome (dislocated lens), Shprintzen-Goldberg syndrome, and others. If you have additional questions, ask your healthcare provider.