What is Marfan Syndrome? What are the Causes, Symptoms and Treatment?

Marfan syndrome is a genetic disease of the body’s connective tissue that can affect the heart, eyes, skeleton, and lungs. The most serious effects are on the cardiovascular system; particularly the effects on the heart valves and the aorta. You can find more information below.

What is Marfan syndrome?

Marfan syndrome; It is an inherited ( genetic ) disease that is caused by a change (mutation) in a gene, which affects the connective tissue as a result. Connective tissue; It provides support to many structures such as bones, tendons, ligaments, cartilage, heart valves and blood vessels.

While most cases are inherited, some cases are caused by a spontaneous change in a gene with no family history. Marfan syndrome can range from mild to severe, and may worsen with age, depending on which area it affects and how severe it is.

In Marfan syndrome, the heart is most affected. The aorta, the body’s main artery, may be wider (widen) than average. This can cause the aorta to rupture or swell under pressure. For example, during strenuous exercise or childbirth. Thus, this process can cause bleeding in the various layers of the aorta or increase the risk of aneurysms (swelling or bubbles that form in the blood vessel wall). If the heart valves are affected, blood can leak backwards and put extra strain on the heart. The heart can then enlarge to cope with the extra workload.

Other common problems include curvature of the spine ( scoliosis ) and nearsightedness (myopia). There is no relationship between Marfan syndrome and intelligence .

Recent estimates suggest that one in 3,000-5,000 people has this genetic syndrome. Men, women and different ethnic groups have similar risks. There is no cure to cure the disease, but potential complications can be managed, so early and accurate diagnosis is important.

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What causes Marfan syndrome?

Marfan syndrome is caused by a change in the FBN1 gene. The rate of transmission of the disease to a child with this syndrome is always half. However, as we said above, without an inherited condition, a random change in the gene can also cause Marfan syndrome.

About one in four cases are due to a spontaneous change in the FBN1 gene at some stage before conception, for unknown reasons . The changed gene affects the composition of fibrillin , an important glycoprotein that contributes to the integrity of connective tissue .

Research into the syndrome is ongoing, in hopes of developing specific genetic tests for a more accurate diagnosis. Along with technological advances in genetic testing, other genes have recently been found that may explain a small percentage of cases and other symptoms associated with the syndrome. Research continues to better understand the syndrome and acquired findings.

What are the symptoms of Marfan syndrome?

While the symptoms of Marfan syndrome vary from person to person, it also varies depending on which body part it affects and to what degree. Some people’s conditions are so mild and closed that they may not even be aware that they are sick.

In general, symptoms can include:

  • Family history of the same disease
  • long and narrow face
  • Proportionately small mandible and narrow, high-arched palate
  • Tall stature, often due to disproportionately developing long arms and legs
  • Thin, long fingers and toes ( arachnodactyly – spider-toed)
  • sunken or protruding chest
  • Loose and flexible joints that are often prone to dislocations
  • Scoliosis (curvature of the spine)
  • Visual problems such as nearsightedness ( myopia ) or dislocation of the ocular lens (the lens of the eye)
  • Enlarged aorta, mitral valve prolapse (capped or collapsed mitral valve)
  • cracks in the body
  • Pneumothorax (spontaneous collapse of the lung)
  • Dural ectasia (enlargement of the dural sac around the brain and spinal cord)

Which department should I go to for Marfan syndrome?

A coordinated clinic (working across disciplines) is the best place to go to care for Marfan syndrome and related conditions. A coordinated clinic provides treatment and service in all Marfan-related specialties. These areas include genetics, cardiology (heart), ophthalmology (eyes), and orthopedics (bones and joints).

How is Marfan syndrome diagnosed?

Gene testing can be organized for some families that meet the diagnostic criteria. A collection of major characteristic features must be present to detect the syndrome. A confirmed diagnosis requires a coordinated evaluation for Marfan syndrome by an experienced cardiologist, ophthalmologist, orthopedic surgeon, and geneticist.

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Marfan syndrome is diagnosed using a number of tests, including:

  • Physical examination
  • family history
  • Echocardiogram (picture of the heart using sound waves)
  • eye exam
  • Comparison of results with genetic database

It turns out that a small proportion of people who previously thought they had the Marfan genetic syndrome actually had a related but different syndrome called Loeys-Dietz syndrome . Loeys-Dietz syndrome has many features in common with Marfan syndrome; however, people with Loeys-Dietz syndrome have more aggressive blood vessel disease and do not develop the eye complications seen in Marfan syndrome.

How is Marfan syndrome treated?

There is currently no treatment that will definitively cure Marfan syndrome. Depending on which body parts are affected and to what degree, regular monitoring and treatment options may include:

  • Lifestyle changes (more on this below)
  • Regular echocardiogram tests to monitor heart and aorta size and function
  • Regular eye exams and treatment
  • Regular check-ups to monitor the skeleton and offer corrective treatment if needed (this is especially important during adolescent growth)
  • Medications such as beta-blockers to lower blood pressure and relieve the load on the cardiovascular system
  • Precautions such as a course of antibiotics to prevent infection before any surgery involving the teeth, genitals or urinary system to reduce the risk of heart valve problems including infection ( endocarditis ).
  • Cardiac surgery, such as surgical repair of the valves and aorta

Remember, your doctor will decide on the treatment and what medications to take.

Living with Marfan syndrome

Before today, the expected lifespan for a person with Marfan syndrome was in their mid-40s, but now their lifespan can be like a normal human lifespan. The reason for this development is generally explained in the following items:

  • Enhanced awareness of the disease among healthcare professionals
  • Early diagnosis
  • Advances in medical management and medicine
  • Improved and more effective surgical techniques
  • Appropriate lifestyle changes.

lifestyle changes

If you have Marfan syndrome, it is important to be well informed about how and how the disease can be managed. General well-being and quality of life for individuals with this syndrome can be improved by making lifestyle choices that reduce stress on their bodies. A healthcare professional can advise you on appropriate lifestyle recommendations.

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Depending on which body parts are affected and to what degree, these changes may include:

  • avoiding contact sports
  • Avoiding physical activities related to isometric exercise, such as weight training or carrying heavy objects
  • Doing lighter exercise
  • Have expert advice

Complications

A heart valve affected by Marfan syndrome (such as the mitral valve) is not as rigid and durable as it should be, causing it to collapse back under pressure. This is called mitral valve prolapse. To cope with reflux and the heart has to work much harder to pump blood around the body.

People whose heart valves are affected by Marfan syndrome are at increased risk for endocarditis (the lining of the heart), an infection of the heart wall or valves. This can have life-threatening consequences. Before various surgeries are performed, a preventive antibiotic treatment is recommended to minimize this risk and prevent bacterial infection.

Genetic counseling and Marfan syndrome

If you or a family member has been diagnosed with Marfan syndrome or if you already have the condition in your family, talking to a genetic counselor can be helpful.

Genetic counselors are health professionals who are qualified in both counseling and genetics. In addition to providing emotional support, they can help you understand Marfan syndrome and its causes, how it is inherited, and what the diagnosis means for your or your child’s health and development. Genetic counselors are trained to provide information and support sensitive to your family’s circumstances, culture and beliefs.

If this genetic syndrome runs in your family, a genetic counselor can explain what genetic testing options are available for you and other family members. If you are planning a family, you may want to consider visiting a genetic counselor to find out your risk of passing the condition to your child or to arrange prenatal testing.

Marfan syndrome and schizophrenia

Some people can sometimes be affected by both Marfan syndrome and schizophrenia. However, the link between the two is not yet clear and more research and findings are needed. You can find detailed information and case examples about Marfan syndrome and schizophrenia from the relevant link .

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