Question: What is (are) Marfan Syndrome ?
Answer: Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening. Overview Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue. Most people who have Marfan syndrome inherit it from their parents. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children. In about 1 in 4 cases, the mutation that causes Marfan syndrome is not inherited. Thus, the affected person is the first in his or her family to have the condition. Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as: 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 (sko-le-O-sis). A chest that sinks in or sticks out. These conditions are called pectus excavatum (eks-ka-VA-tum) and pectus carinatum (ka-ri-NA-tum), respectively. Teeth that are too crowded. Flat feet. Marfan syndrome traits vary from person to person, even in the same family. Some people who have the condition have many traits, while others have few. 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 (di-LA-shun) or aortic aneurysm (AN-u-rism). If the aorta stretches and grows weak, it may tear or burst and leak blood. This condition is called aortic dissection. It's very serious and can lead to severe heart problems or even death. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. Limiting certain activities, or changing how you do them, may help reduce the risks to the aorta, eyes, and joints. The type of treatment you receive depends on how the condition is affecting your body. Outlook About 1 out of every 5,000 people in the United States has Marfan syndrome. Men, women, children, and people of all races can have the condition. Advances have been made in the early diagnosis and treatment of Marfan syndrome. It's now possible for people who have the condition to live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are properly diagnosed and treated may live an average lifespan. Researchers continue to study the condition and look for better treatments.
Source: NHLBI

Question: What causes Marfan Syndrome ?
Answer: Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue. Most people who have Marfan syndrome inherit it from their parents. If you have the condition, you have a 50 percent chance of passing the altered gene to each of your children. Sometimes Marfan syndrome isn't inherited. The mutation in the fibrillin gene occurs in the egg or sperm cells. If a child is conceived, the altered gene may be passed on to the child. The risk of that child's brothers or sisters having Marfan syndrome is low.
Source: NHLBI

Question: What are the treatments for Marfan Syndrome ?
Answer: Marfan syndrome has no cure. However, treatments can help delay or prevent complications, especially when started early. Marfan syndrome can affect many parts of your body, including your heart, bones and joints, eyes, nervous system, and lungs. The type of treatment you receive will depend on your signs and symptoms. Heart Treatments Aortic dilation, or aortic aneurysm, is the most common and serious heart problem linked to Marfan syndrome. In this condition, the aortathe main artery that carries oxygen-rich blood to your bodystretches and grows weak. Medicines are used to try to slow the rate of aortic dilation. Surgery is used to replace the dilated segment of aorta before it tears. If you have Marfan syndrome, you'll need routine care and tests to check your heart valves and aorta. Medicines Beta blockers are medicines that help your heart beat slower and with less force. These medicines may help relieve strain on your aorta and slow the rate of aortic dilation. Some people have side effects from beta blockers, such as tiredness and nausea (feeling sick to your stomach). If side effects occur, your doctor may prescribe a calcium channel blocker or ACE inhibitor instead of a beta blocker. Both medicines help relieve stress on the aorta. Studies suggest that blocking a protein called TGF-beta may help prevent some of the effects of Marfan syndrome. Research shows that the medicine losartan may block the protein in other conditions. The National Heart, Lung, and Blood Institute currently is sponsoring a study comparing losartan to a beta blocker in children and adults who have Marfan syndrome. The study's goal is to find out which medicine, if either, is best at slowing the rate of aortic dilation. Surgery If your aorta stretches, it's more likely to tear (a condition called aortic dissection). To prevent this, your doctor may recommend surgery to repair or replace part of your aorta. Surgery may involve: A composite valve graft. For this surgery, part of the aorta and the aortic valve are removed. The aorta is replaced with a man-made tube called a graft. A man-made valve replaces the original valve. Aortic valve-sparing surgery. If your aortic valve is working well, your doctor may recommend valve-sparing surgery. For this surgery, your doctor replaces the enlarged part of your aorta with a graft. Your aortic valve is left in place. After aortic surgery, you may need medicines or followup tests. For example, after a composite valve graft, your doctor will prescribe medicines called anticoagulants, or "blood thinners." Blood thinners help prevent blood clots from forming on your man-made aortic valve. You'll need to take these medicines for the rest of your life. If you've had valve-sparing surgery, you'll only need to take blood thinners for a short time, as your doctor prescribes. If you've had a composite valve graft, you're at increased risk for endocarditis (EN-do-kar-DI-tis). This is an infection of the inner lining of your heart chambers and valves. Your doctor may recommend that you take antibiotics before certain medical or dental procedures that increase your risk of endocarditis. Your doctor also may advise you to continue taking beta blockers or other medicines after either type of aortic surgery. After surgery, you may have routine cardiac magnetic resonance imaging (MRI) or cardiac computed tomography (CT) scans to check your aorta. Cardiac MRI is a painless test that uses radio waves and magnets to created detailed pictures of your organs and tissues. Cardiac CT is a painless test that uses an x-ray machine to take clear, detailed pictures of your heart. Bone and Joint Treatments If you have scoliosis (a curved spine), your doctor may suggest a brace or other device to prevent the condition from getting worse. Severe cases of scoliosis may require surgery. Some people who have Marfan syndrome need surgery to repair a chest that sinks in or sticks out. This surgery is done to prevent the chest from pressing on the lungs and heart. Eye Treatments Marfan syndrome can lead to many eye problems, such as a dislocated lens, nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and cataracts (clouding of an eye's lens). Glasses or contact lenses can help with some of these problems. Sometimes surgery is needed. Nervous System Treatments Marfan syndrome can lead to dural ectasia. In this condition, a substance called the dura (which covers the fluid around your brain and spinal cord) stretches and grows weak. This can cause the bones of the spine to wear away. Dural ectasia usually is treated with pain medicines. Lung Treatments Marfan syndrome may cause pneumothorax, or collapsed lung. In this condition, air or gas builds up in the space between the lungs and the chest wall. If the condition is minor, it may go away on its own. However, you may need to have a tube placed through your skin and chest wall to remove the air. Sometimes surgery is needed.
Source: NHLBI