Marfan Syndrome

As a result of Marfan syndrome, the aorta, the main artery that carries blood from your heart to the rest of your body, can become dilated (or enlarged). In addition, a weak portion of the vessel wall can bulge, leading to an aortic aneurysm. In all of these cases, aortic dissection, or tearing, is a risk — making regular monitoring critical.

Marfan syndrome can also affect the valves that control blood flow both within the heart and from the heart to the blood vessels. In these cases, two of the heart valve flaps are prone to closing incompletely, leading to mitral valve disease and/or aortic valve disease. This can negatively affect blood flow and heart rhythm and may require surgical intervention to correct.

In addition to heart issues, individuals with Marfan syndrome may experience complications in the lungs, bones, eyes and nervous system.

For heart complications associated with Marfan syndrome, early detection allows your doctor to monitor the size of the aorta carefully and examine the walls of your blood vessels. It also allows your doctor to determine whether aortic repair surgery may or may not be needed to prevent an aortic rupture or tear.

After surgery, medications are taken to lower blood pressure and help prevent further complications. This proactive approach also allows doctors to monitor valve function and to determine whether valve repair surgery might be needed.

Marfan syndrome is an inherited connective tissue disorder, and it shares many similar symptoms with other disorders of this nature. This can make Marfan syndrome difficult to diagnose. In addition, the signs and symptoms can vary widely from person to person.

Common symptoms of Marfan syndrome include:

• A tall and thin frame with disproportional arms, fingers and legs
• Chest bone that sticks in or out
• Crowded teeth and a highly arched palate
• Curved spine
• Eye issues, including severe nearsightedness
• Flat feet
• Heart issues, including heart murmurs

If you’re suspected to have Marfan syndrome, your doctor will likely use an echocardiogram to visualize your aorta and heart valves. Genetic testing is a common way to confirm a Marfan syndrome diagnosis.