What causes Marfan syndrome mutation?

A mutation or change in the fibrillin-1 (FBN1) gene causes Marfan syndrome. People with Marfan syndrome inherit one normal copy of the FBN1 gene and one abnormal copy of FBN1 from their parents. The abnormal copy of the gene is stronger or “dominant” over the normal copy of the gene and causes Marfan syndrome.

Who does Marfan syndrome affect the most?

Physical signs sometimes present in infancy but more often show up later in childhood or adolescence. Marfan syndrome affects approximately 200,000 people in the United States; both men and women of any race or ethnic group may be affected. Both the cardiovascular and skeletal systems are affected by this condition.

How does Marfan syndrome affect quality of life?

Marfan syndrome is a genetic disorder of the body’s connective tissue, which may affect the heart, eyes, skeleton and lungs. The most serious effects include those on the cardiovascular system, particularly the heart valves and aorta.

What effect does Marfan syndrome have on body?

People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.

How does Marfan syndrome affect the heart?

The most common heart problems involve the aorta: the main blood vessel that carries blood from the heart to the rest of the body. Marfan syndrome can weaken the aorta and lead to serious problems, including: An enlarged aorta (aortic dilation) A bulge in the aorta’s walls (aortic aneurysm)

What gene is affected in Marfan syndrome?

Causes. Marfan syndrome is caused by defects or deletions (mutations) of the fibrillin-1 (FBN1) gene. Not everyone who has a mutation of this gene develops Marfan syndrome. Some changes do not alter the function of the gene or protein and therefore do not cause a medical problem.

What are other names for Marfan syndrome?

Marfan syndrome
Other names	Marfan’s syndrome
Ectopia lentis in Marfan syndrome: Zonular fibers are seen.
Specialty	Medical genetics
Symptoms	Tall, thin build; long arms, legs and fingers; flexible fingers and toes

How does Marfan syndrome affect the body?

Where is Marfan syndrome most common?

Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes.

What is the cause of Marfan syndrome?

Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β.

What are the long term effects of Marfan syndrome?

Retinal problems. Marfan syndrome also increases the risk of a detachment or tear in the retina, the light-sensitive tissue that lines the back wall of your eye. Early-onset glaucoma or cataracts. People who have Marfan syndrome tend to develop these eye problems at a younger age.

How does Marfan syndrome affect scoliosis?

Scoliosis is a sideways curvature of the spine. Marfan syndrome can interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Because Marfan syndrome can affect almost any part of your body, it may cause a wide variety of complications.

How do glaucoma and Marfan syndrome affect the body?

Glaucoma causes the pressure within the eye to increase, which can damage the optic nerve. Cataracts are cloudy areas in the eye’s normally clear lens. Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis.