Marfan Syndrome

Alternate Names : Neonatal Marfan Syndrome, Congenital Marfan Syndrome, Infantile Marfan Syndrome

Marfan syndrome is an inherited disorder of the connective tissue in the body. It affects mainly the muscles, bones, eyes, and heart. It occurs in about 1 out of every 10,000 people.

What is going on in the body?

Marfan syndrome is caused when there is a mistake in the gene that makes fibrillin. Fibrillin is needed to support most of the tissues that make up the body. When the fibrillin is defective, problems can occur in muscles, bones, eyes, heart, and even the skin and lungs.

What are the causes and risks of the disease?

The life-threatening complications of Marfan syndrome are mostly due to the problems with the heart valves and the aorta. As the heart valves weaken, they stop pumping the blood as well as needed. This can lead to heart failure or changes in the heart rhythm. The valves can also become infected. This can lead to blood clots. The place where the aorta leaves the heart can become too wide and begin to tear. This is called an aortic dissection.

Problems with the lens and the retina of the eye can lead to blindness. If the spine begins to curve, it can lead to scoliosis.