Overview

What Is Marfan Syndrome?

Marfan syndrome is an inherited disorder of the connective tissue, the fibers that provide the framework and support for the body. A patient with Marfan syndrome can't produce fibrillin, a protein that helps to give the connective tissue its strength and elasticity. Marfan syndrome affects connective tissue in the following areas:

• 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 5,000 persons, and impacts all races and ethnic groups. Although present at birth, it may not be diagnosed until adolescence or young adulthood.

If unrecognized or left untreated, the average life expectancy for a patient with Marfan syndrome is 45 years. With focused and appropriate medical and surgical intervention, however, Marfan syndrome patients with cardiovascular abnormalities can expect to live long and rewarding lives, comparable 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