Marfan Syndrome
Marfan syndrome is a genetic disorder that affects connective tissue. Connective tissue helps hold the bodys cells, organs, and other structures together. It also plays an important role in forming many of the body’s joints and structures, including the spine and muscles. Marfan syndrome is named after the French doctor, Antoine Marfan, who first described it in 1896.
The most serious complications from Marfan syndrome involve the heart, blood vessels, eyes, lungs and skeletal system. The most common heart problem associated with Marfan syndrome is aortic enlargement. This condition occurs when the walls of the aorta, the main artery leading from the heart, become weakened. The enlargement can eventually burst, leading to a life-threatening condition. Other heart problems that can occur with Marfan syndrome include an abnormally shaped aortic valve, increased risk of endocarditis (an infection in the heart) and other valve defects. In addition, people with Marfan syndrome are at increased risk of high blood pressure and heart failure.
People with Marfan syndrome also can have eye problems, including near-sightedness and detached retinas. In addition, they are at risk of developing a condition called Marfan-associated lung disease, which affects the alveoli, or air-filled sacs, in the lungs. This can lead to impaired breathing and decreased oxygen levels in the blood.
People with Marfan syndrome commonly have skeletal problems, including long limbs and fingers, an unusually curved spine (scoliosis), a high-arched palate, a sunken chest (pectus excavatum) and flat feet. Some affected individuals also may develop excessive visibility of the ribs or a condition called dural ectasia, which is an enlargement of the sheath surrounding the spinal cord.
Marfan syndrome is caused by a mutation in a single gene called the fibrillin-1 (FBN1) gene. This gene provides instructions for making a protein called fibrillin-1, which helps form elastic fibers found in connective tissue. Specifically, fibrillin-1 provides the framework for a protein called elastin that gives connective tissues their elasticity. In people with Marfan syndrome, a mutation in the FBN1 gene disrupts the production of fibrillin-1 and elastin, leading to an increased risk of heart, skeletal and other health problems.
Marfan syndrome is inherited in an autosomal dominant pattern, which means one copy of the mutated gene in each cell is enough to cause the condition. Most cases are sporadic, meaning they are not inherited from a person’s parents but occur in an individual for the first time in their family. When a parent has Marfan syndrome, each of their children has a 50 percent (1 in 2) chance to inherit the mutation.
Although there is no cure for Marfan syndrome, medications and surgery can be used to treat the most serious complications. Medications, such as beta blockers and angiotensin-converting enzyme (ACE) inhibitors, can be used to reduce the risk of aortic rupture, while surgical procedures are available to repair aortic aneurysms, valve defects and scoliosis. In addition, people with Marfan syndrome can be monitored regularly by an ophthalmologist, cardiologist and orthopedic surgeon to help detect and prevent worsening symptoms.
Marfan syndrome is a lifelong condition that can affect many aspects of a person’s life. However, with the right treatment and lifestyle modifications, affected individuals can live a long, healthy life.
