Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage. Some complications of Marfan syndrome can be treated or prevented, including heart disease, bone deformities such as a curved spine, eye conditions, crooked teeth, and collapsed lungs.
Some complications of Marfan syndrome can be very serious, like an aneurysm bulge of the aorta, the main artery that takes blood away from the heart. An aortic aneurysm can cause the walls of the aorta to tear apart dissect and blood to leak in the space created by the tear.
An aortic aneurysm can be life threatening. Marfan syndrome is rare, happening in about 1 in 5, people. Recognizing the signs of Marfan syndrome is important for prevention and treatment of serious and even life-threatening complications. People with Marfan syndrome are often tall and thin, with very long arms, legs, fingers, and toes.
Marfan syndrome is caused by a change in a gene called FBN1 that creates problems in a protein called fibrillin Fibrillin-1 is an important part of our connective tissue.
Because connective tissue is found throughout the body, patients with Marfan syndrome can have problems with bones, joints, eyes, heart, blood vessels, nervous system, skin and lungs. Three out of every 4 people with Marfan syndrome inherit the condition from a parent with the disease.
One out of 4 people with Marfan syndrome have a new change or mutation in the FBN1 gene, meaning that no one else in their family has Marfan syndrome. Genetic testing for Marfan syndrome is available. Fibrillin is a critical part of connective tissue. Marfan syndrome is usually an inherited genetic disorder.
Three of four people with Marfan syndrome inherited it from a parent. That means you are at greatest risk if you have a parent with Marfan syndrome. A parent with Marfan syndrome has a chance of passing the defective gene along to his or her children. About one-quarter 1 out of 4 of Marfan syndrome cases are not inherited.
This means these people have a spontaneous new gene defect. The disorder affects both sexes equally and can occur in any ethnic group. About Foundation Museum of the Eye. Marfan Syndrome. Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest.
Foot pain and low back pain are common with Marfan syndrome. Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During pregnancy, the heart pumps more blood than usual. This can put extra stress on the aorta, which increases the risk of a deadly dissection or rupture.
Marfan syndrome care at Mayo Clinic. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Overview Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Finger length in Marfan syndrome Open pop-up dialog box Close. Finger length in Marfan syndrome People who have Marfan syndrome typically have especially long fingers.
Longer arms in Marfan syndrome Open pop-up dialog box Close. Longer arms in Marfan syndrome Marfan syndrome is a genetic disorder that causes people to have unusually long arms, legs and fingers. Request an Appointment at Mayo Clinic. Aneurysm at aortic root Open pop-up dialog box Close.
Aneurysm at aortic root The pressure of blood leaving your heart can cause the wall of your aorta to bulge out, like a weak spot in a tire.
Aortic aneurysm and aortic dissection Open pop-up dialog box Close. Aortic aneurysm and aortic dissection An aortic aneurysm occurs when a weak spot in the wall of your aorta begins to bulge left. Lens dislocation Open pop-up dialog box Close. Lens dislocation Some people who have Marfan syndrome may experience the dislocation of the lens in their eye.
0コメント