Marfan syndrome Expert in Perumbakkam

Your Trusted Partner in Marfan syndrome

Marfan syndrome is a genetic disorder that affects the connective tissue, causing tall stature, long limbs, and various cardiovascular and skeletal abnormalities. We are here to provide you with top-notch care and guidance to tackle your problems.

Marfan syndrome Hospital in Perumbakkam, Chennai

Understanding Marfan Syndrome

Causes of Marfan Syndrome

When you have Marfan syndrome, there is a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1.

In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who have Marfan syndrome have a 50% chance of passing along the disorder to each of their children.

In 25% of cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred to as a “variable expression” genetic disorder because not everyone with Marfan syndrome has the same symptoms and the symptoms may be worse in some people than others.

Marfan syndrome is present at birth. However, you may not be diagnosed until you’re a teen or young adult.

Symptoms of Marfan Syndrome:

Cardiovascular complications

The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta — the large artery that arises from the heart and supplies blood to the body.

  • Aortic aneurysm: The pressure of blood leaving your heart can cause the wall of your aorta to bulge out, like a weak spot in a tire. In people who have Marfan syndrome, this is most likely to happen at the aortic root — where the artery leaves your heart.
  • Aortic dissection: The wall of the aorta is made up of layers. Dissection occurs when a small tear in the innermost layer of the aorta’s wall allows blood to squeeze between the inner and outer layers of the wall. This can cause severe pain in the chest or back. An aortic dissection weakens the vessel’s structure and can result in a rupture, which may be fatal.
  • Valve malformations: People who have Marfan syndrome can have weak tissue in their heart valves. This can produce stretching of the valve tissue and abnormal valve function. When heart valves don’t work properly, your heart often has to work harder to compensate. This can eventually lead to heart failure.

How is Marfan Syndrome Managed?

People with Marfan syndrome are born with it, but features of the condition are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.

This makes it very important for people with Marfan syndrome and related conditions to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be.

Knowing the signs of Marfan syndrome can save lives. Our community of experts estimates that nearly half the people who have Marfan syndrome don’t know it. This is something we are working hard to change.

How is Marfan Syndrome Diagnosed?

Because Marfan syndrome can affect tissue all over your body, a team of healthcare providers may be involved in confirming the diagnosis and developing a treatment plan.

First, they’ll take your medical history, conduct a physical exam to look for typical signs or findings associated with Marfan, ask questions about the symptoms you’re experiencing, and gather information about family members who may have had health problems related to Marfan syndrome.

Tests to evaluate changes in the heart, blood vessels and heart rhythm problems may include:

  • Chest X-ray to look at your heart’s border.
  • Electrocardiogram (ECG) to check heart rate and rhythm.
  • Echocardiogram to check for heart valve problems, examine your heart for ventricular dilation or thickening, and examine your aorta for enlargement, dissections (tears) or aneurysms.


While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you’ll need to be checked regularly for signs that the damage caused by the disease is progressing.

In the past, people who had Marfan syndrome often died young. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span.

Frequently Asked Question on Marfan Syndrome
Can Marfan syndrome be prevented?

Marfan syndrome cannot be prevented as it is a genetic condition. Genetic counseling may be considered for individuals with a family history.

How is Marfan syndrome diagnosed?

Diagnosis involves a clinical examination, family history assessment, and genetic testing to identify the FBN1 gene mutation.

What is the treatment for Marfan syndrome?

Treatment aims to manage symptoms and may include medications, cardiac monitoring, surgery for aortic issues, eye care, orthopedic interventions, and lifestyle management.

Can people with Marfan syndrome lead a normal life

With proper management and care, individuals with Marfan syndrome can lead fulfilling lives. Regular medical monitoring is essential to address potential complications.

What causes Marfan syndrome?

Marfan syndrome is caused by a genetic mutation, typically involving the FBN1 gene, affecting the connective tissue in the body.