Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of human connective tissue. It has various expressions ranging from mild to severe: the most serious complications are defects of the heart valves and aorta, which often lead to early death. The syndrome also may affect the lungs, eyes, dural sac surrounding the spinal cord, the skeleton, and the hard palate. People with Marfan tend to be unusually tall, with long limbs and long, thin fingers. ~ wikipedia
One of the biggest threats of Marfan syndrome is damage to the aorta, the artery that carries blood from the heart to the rest of the body. Marfan syndrome can rupture the inner layers of the aorta, causing dissection that leads to bleeding in the wall of the vessel. Aortic dissection can be deadly. Surgery may be required to replace the affected part of the aorta. Some people with Marfan syndrome also have mitral valve prolapse, a billowing of the heart valve that may be associated with irregular or rapid heart beats and shortness of breath. It may require surgery.
What Causes Marfan Syndrome?
Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, an essential component of connective tissue that contributes to its strength and elasticity.
In most cases, Marfan syndrome is inherited from a parent, but 1 in 4 cases occurs in people with no known family history of the disease. It occurs equally in men and women, who have a 50% risk of passing on the gene to their children. Marfan syndrome is present at birth, but may not be diagnosed until adolescence or later. Everyone with Marfan syndrome has the same defective gene, but not everyone experiences the same symptoms to the same degree.~ webmd.com
How Is Marfan Syndrome Treated?
Individuals who have Marfan syndrome are treated by a multidisciplinary medical team that includes a geneticist, cardiologist, ophthalmologist, orthopedist and cardiothoracic surgeon.
Eye problems are generally treated with eyeglasses. When lens dislocation interferes with vision or causes glaucoma, surgery can be performed and an artificial lens implanted.
Skeletal problems such as scoliosis and pectus excavatum may require surgery. For those individuals who have pes planus (flat feet) arch supports and orthotics can be used to decrease leg fatigue and muscle cramps.
Medication, such as beta blockers, is used to decrease the stress on the aorta at the time of diagnosis or when there is progressive aortic dilatation. Surgery to repair the aorta is done when the aortic diameter is greater than 5 cm in adults and older children, when the aortic diameter increases by 1.0 cm per year, or when there is progressive aortic regurgitation.
Cardiovascular surveillance includes yearly echocardiograms to monitor the status of the aorta. Currently the use of beta blocker medications has delayed but not prevented the need to eventually perform aortic surgery.
Recent work on Angiotensin II receptor blockers, another blood pressure medication like beta blockers, has shown additional promise to protect the aorta from dilatation. Clinical trials will be starting soon to see if this drug can prevent the need for surgery better than beta blockers have.
Individuals who have Marfan syndrome are advised to avoid contact and competitive sports and isometric exercise like weight lifting and other static forms of exercise. They can participate in aerobic exercises like swimming. They are also advised to avoid medications such as decongestants and foods that contain caffeine which can lead to chronic increases in blood pressure and stretch the connective tissue in the cardiovascular system.~ .genome.gov