Marfan Syndrome

Marfan syndrome is a genetic condition that affects the body’s connective tissue, the tissue that helps support and hold together organs and other structures. While Marfan syndrome can affect many parts of the body, it most commonly involves the heart and blood vessels, eyes, and skeleton.

This disease is inherited and caused by a change in a gene involved in producing a protein called fibrillin that helps connective tissue maintain its strength and elasticity. Most people with Marfan syndrome inherit the condition from a parent, although it can also occur because of a new genetic change in someone with no family history of the disorder.

Marfan syndrome affects people of all races and affects males and females equally. Importantly, having some features associated with Marfan syndrome does not necessarily mean that someone has the condition. Marfan syndrome can look different from one person to another, even within the same family. Some individuals may experience relatively mild effects, while others can develop serious complications.

Possible features include:

• A tall and slender build

• Unusually long arms, legs, fingers, or toes

• A breastbone that protrudes outward or dips inward

• A high, arched roof of the mouth and crowded teeth

• Nearsightedness

• Curvature of the spine, such as scoliosis

• Flat feet

• Certain heart or heart-valve abnormalities

One of the most important reasons Marfan syndrome requires ongoing medical care is its potential effect on the aorta, the body's largest artery. Changes in connective tissue can weaken the wall of the aorta and increase the risk of an aortic aneurysm or aortic dissection. These complications can be life-threatening, which is why regular monitoring is an important part of caring for someone with Marfan syndrome. Heart valves can also be affected. When valve tissue does not function normally, the heart may have to work harder to pump blood.

Marfan syndrome can also affect vision. The structures that support the lens of the eye may become weakened, potentially causing the lens to move out of its normal position. People with Marfan syndrome can also have an increased risk of certain retinal problems, glaucoma, and cataracts. 

Because connective tissue is found throughout the body, Marfan syndrome can affect the skeletal system as well. People with the condition may develop scoliosis, changes in the shape of the chest, flat feet, or pain in areas such as the feet and lower back. The range and severity of these symptoms can be very different from person to person.

Diagnosing Marfan syndrome can be challenging because its characteristics can overlap with other connective-tissue conditions. Healthcare professionals may consider a person's physical features, family history, heart health, eye health, and other findings when evaluating the condition. Once diagnosed, the treatment is individualized. Depending on a person's needs, care may include medications, regular monitoring, and sometimes preventive surgery to reduce the risk of serious complications.

Living with a genetic condition can bring uncertainty, but understanding Marfan syndrome can help individuals and families recognize the importance of appropriate medical care and regular monitoring.

References

Marfan syndrome - Symptoms and causes. (2024, March 22). Mayo Clinic. Retrieved September 13, 2026, from https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782