Marfan syndrome gene dominant, but the degree ofmanifestations of the disease varies. People with Marfan's disease have higher growth than the majority of their peers and how their relatives; the distance between the tips of his fingers divorced in hand hand exceeds the growth of the patient. The fingers are long and thin. The belly is often deformed: sunken or protruding. Characterized mobility in the joints and flat hump in combination with a spinal curvature (kyphoscoliosis) and hernia. The layer of fat under the skin is usually thin.
Often there is a subluxation of the lens in both eyes. A doctor using an ophthalmoscope can see the edge of the lens in the pupil. Patients often reveals strong short-sightedness; sometimes develops retinal detachment eyes.
The weakness of the aorta wall may be accompanied by. Gradual expansion of this vital artery and the formation of an aneurysm (bulge in the wall of the blood vessel happens that leaks blood (splitting of the aorta between the layers of the wall), and if the aneurysm ruptures, there is massive bleeding As the aorta widens, the aortic valve, located at the exit of. heart into the aorta, starts to pass the blood - there is aortic regurgitation (blood starts to go backwards), or aortic valve insufficiency Mitral valve that is located between the left atrium and the left ventricle, may also pass blood, can it prolapse, ie deflection of flaps. . back to the left atrium in the lungs may develop bags (cysts) fluid-filled cyst rupture occurs When pneumothorax - air accumulation in the space that surrounds the lungs;. breathing difficult.
The risk of complications is largely dependent on thehow heavy anomalies. The main danger - a sudden rupture of the aorta, which can rapidly lead to death. Aortic rupture is more likely during active sports activities.
The main goal of treatment is toprevent complications on the blood vessels and eyes. The eyes should be examined once a year. If you develop any visual impairment, a person suffering from Marfan syndrome, should consult a doctor immediately.
To prevent the expansion and delaminationaorta, usually used reserpine propanol or - preparations reducing effect ejection of blood from the heart. If the aorta expands, the affected part, in some cases, offer to repair or replace surgically, which gives good results.
Children with Marfan syndrome usually grow very tall. Therefore, the girls at too rapid growth of the doctor may recommend hormone replacement therapy (estrogen and progesterone).
Treatment is usually started at the age of 10 years to cause early puberty and thus stop the growth.
If patients with Marfan syndrome to have children, it is desirable to undergo genetic counseling, which will assess the risk of inheriting the syndrome of children.