Named after Antoine Marfan, the French doctor who discovered Marfan syndrome in 1896.

Marfan syndrome is a disorder that affects the body's connective tissue . Connective tissue is found everywhere in the body. Think of it as a type of "glue" that helps support all of your organs, blood vessels, bones, joints, and muscles.

In people with Marfan syndrome, this "glue" is weaker than normal. This causes changes in many systems of the body, but especially the heart, eyes, and bones.

People with Marfan syndrome often share similar traits. They tend to be tall and thin with very long arms, legs, fingers, and toes. They often develop curves in their spines (scoliosis) or their chest bones. They may also be nearsighted and have other problems with their eyes. But the most serious thing about Marfan syndrome is what can happen with the heart.

Over time, weak connective tissue can cause the aorta, the large artery that carries blood away from the heart to the rest of the body, to stretch and dilate , or widen. If not treated, the aorta can suddenly tear, causing blood to leak out of the heart. This condition, called a dissection (, is very serious and can cause death.

The good news is that, even though Marfan syndrome has been considered as autoimmune , doctors can treat just about all of its symptoms and if diagnosed early stop the disease progression. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early and get good medical care can live long, happy lives.

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Definition of Marfan syndrome:

Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

Causes, incidence, and risk factors:

Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for elastic tissue in the body.

A problem with this gene leads to changes in elastic tissues, particularly in the aorta, eye, and skin. The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood.

In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect but the real cause is likely to be inflammation or autoimmune.

What Are the Signs and Symptoms of Marfan Syndrome?

Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family.

Marfan complications also vary, depending on how the condition affects your body. Marfan syndrome most often affects the connective tissue of the heart, eyes, bones, lungs, and covering of the spinal cord. This can cause many complications, some of which are life threatening.

Marfan Traits

Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits

A tall, thin build.
Long arms, legs, fingers, and toes and flexible joints.
A spine that curves to one side. This condition is called scoliosis.
A chest that sinks in or sticks out. pr pectus excavatum and pectus carinatum,
Teeth that are too crowded.
Flat feet.

Stretch marks on the skin also are a common trait in people who have Marfan syndrome. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen.

Not everyone who has these traits has Marfan syndrome. Some of these traits also are signs of other connective tissue disorders.

Stretch marks (striae atrophicae) in the lower back.

Complications of Marfan Syndrome

Heart and Blood Vessel Complications

The most serious complications of Marfan syndrome involve the heart and blood vessels.

Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation or aortic aneurysm.

If the aorta stretches and grows weak, it may tear and leak blood. This condition, called aortic dissection, can lead to severe heart problems or even death.

Aortic dissection can cause severe pain in either the front or back of the chest or abdomen. The pain can travel upward or downward. If you have symptoms of aortic dissection, call 9–1–1.

Marfan syndrome also can cause problems with the heart's mitral (MI-trul) valve. This valve controls blood flow between the upper and lower chambers on the left side of the heart. Marfan syndrome can lead to mitral valve prolapse (MVP).

MVP is a condition in which the flaps of the mitral valve are floppy and don't close tightly. MVP can cause shortness of breath, palpitations (pal-pi-TA-shuns), chest pain, and other symptoms.

If you have MVP, your doctor may hear a heart murmur if he or she listens to your heart with a stethoscope. A heart murmur is an extra or unusual sound heard during the heartbeat.

Eye Complications

Marfan syndrome can cause many eye problems. A common problem in Marfan syndrome is a dislocated lens in one or both of the eyes. In this condition, the lens (the part of the eye that helps focus light) shifts up, down, or to the side. This can affect your eyesight. A dislocated lens often is the first sign that someone has Marfan syndrome.

Other eye complications of Marfan syndrome include nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and early cataracts (clouding of an eye's lens). A detached retina also can occur.

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