General Information About Marfan Syndrome
Disease Details and Frequently Asked Questions
It is a systemic disease where the connective tissue, which holds the tissues in the body together and gives them elasticity, is produced with a genetic defect.
Patients are usually very tall and thin. Their arms, legs, and especially fingers (spider fingers - arachnodactyly) are abnormally long in proportion to their trunk. Curvature of the spine (scoliosis) and rib cage deformities are common.
This is the most dangerous aspect of the disease. The wall of the Aorta, the body's largest artery, is weak and can expand (aneurysm) and suddenly tear, which is a fatal condition.
Due to the weakness of the connective tissue, the lens inside the eye can dislocate (lens dislocation) and lead to high myopia.
It is diagnosed through family history, clinical physical findings, a detailed Echocardiography examining the heart, and genetic tests looking for the mutation in the FBN1 gene.
There is no genetic cure, but complications can be prevented. Blood pressure medications (beta blockers) that slow the heart rate and lower the pressure in the aorta are used. If the aortic diameter reaches a dangerous size, the vessel is replaced via open-heart surgery.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
