Overview

Marfan Syndrome and Related Disorders

Your body uses connective tissues to provide the framework and support to maintain your structure. Fibrillin is a protein that helps gives your connective tissue strength and elasticity.

People with Marfan syndrome do not produce fibrillin, affecting the connective tissue for the:

• Skeletal system (bones and ligaments)
• Cardiovascular system (heart and blood vessels)
• Eyes
• Lungs
• Skin

Marfan syndrome is estimated to occur in at least 1 in 5000 persons, and impacts all races and ethnic groups. Although present at birth, it may not be diagnosed until adolescence or young adulthood. Left untreated, the average life expectancy for a patient with Marfan syndrome is 45 years. However, with focused and appropriate medical and surgical intervention, patients with Marfan syndrome who have cardiovascular abnormalities can expect to live long and rewarding lives, similar to people without connective tissue disorders.

The cardiovascular issues associated with Marfan syndrome are by far the most serious, potentially causing life-threatening situations and death. Patients with Marfan syndrome can face:

• Aneurysm (enlargement or ballooning in the aortic wall)
• Dissection (tear within the inner wall of the aorta)
• Rupture of the aorta and/or aortic root
• Mitral valve disease