Marfan syndrome is a genetic disorder that affects connective tissue ( the elastic tissue that connects the different organs and their components). This syndrome is characterized by dilatation of aorta at the base ( the first part of the main artery that carries blood from the heart to the rest of the body), heart valve dysfunction, lens dislocation, myopia and the lengthening of the extremities – hand, feet and toes. If not discovered in time, the condition can cause sudden death of the patient.
Marfan syndrome is a genetic disorder. The gene can be passed from either parents to any children. In exceptional cases the disorder is not inherited from parents, in this situation there is a tendency to produce a new genetic mutation that affects the infant. This situation is far more serious than when the disease could be transmitted genetically. Even in cases in which the gene is passed only from the mother to the child, the severity of the disease varies from person to person.
1 in 10.000 people are affected by Marfan syndrome. The gene that has an abnormal development influences fibrillin, a protein that have an important role in the formation of elastic fibers of connective tissue. The gene may be affected in various ways, this could be the explanation why Marfan syndrome may have different degrees of severity, from patient to patient. Fibrillin is found in the wall of the aorta ( this can explain the dilation of the aortic base), and in the lens fibers that maintain its stability and prevent the dislocation of the lens.
Signs and symptoms
Usually, Marfan syndrome shows few signs and symptoms such as difficulty in walking or in coordination, poor eyesight, chest pain ( in terms of existence of an abnormal aorta). Also, knee or shoulder dislocation can occur in patients with this disease because of the long ligaments.
As the child grows the signs of this syndrome become obvious.
Patients suffering from Marfan syndrome are very tall and reported to the size of the trunk, the limbs are very long. The existence of this syndrome increases the risk of developing problems like scoliosis, kyphosis, deformity of the foot, forming a cavity in the chest and extremely flexible joints.
The most important thing is to monitor the health of the aorta by professional consult, echocardiography and other techniques to detect cardiovascular changes. If the aorta is dilated it is recommended to be used treatment with drugs which lower the blood pressure. It is also recommended that the patient should avoid sports that involve lifting weights or can overwork the heart. In patients with pathological deviation of the spine may be needed surgery or physiotherapy.
Surgery is required in sever cases of scoliosis or kyphosis. This procedure follows the spinal correction with a support rod which is inserted into the spine during surgery. It also can be used bone graft to fuse the spine.A cardiologist surgeon can replace the aortic valve with a graft, when the valve exceeds a certain size (measured by special tests). Without this procedure, the aorta may grow in size and might break, which is extremely dangerous