Marfan syndrome is a disease that affects the connective tissue. Connective tissue is found throughout the body. It provides strength and support for your body. It also provides strength and elasticity to the blood vessels. For people with Marfan syndrome, the connective tissue is not as strong as it should be. Marfan syndrome can affect the bones, skin, nervous system, eyes, and the heart and blood vessels.
Marfan syndrome is inherited. It is caused by a defect in the gene that makes a protein your body needs for strong and elastic connective tissue. People with Marfan syndrome have a 50-50 chance of passing the defective gene to their children.
Marfan syndrome is present at birth. However, the condition may not be diagnosed until young adulthood.
Marfan syndrome may produce few symptoms at first. However, symptoms become noticeable over time as the changes in the connective tissue occur. The symptoms can be very different from person to person.
People with Marfan syndrome are often very tall and thin. Their arms, legs, fingers, and toes may seem too long for the rest of their body. Often, people with Marfan syndrome have a long, narrow face. The spine may be curved and the breastbone (sternum) may either stick out or be indented inward. Joints may be weak and dislocate easily.
Most people with Marfan syndrome have problems with their heart and blood vessels. The heart's valves, especially the mitral valve, can become floppy and may not close tightly. This allows blood to leak backwards across the valve (a problem called mitral valve prolapse). Mitral valve prolapse increases the workload on the heart and may cause shortness of breath, tiredness, or palpitations (fluttering in the chest). The abnormal flow may cause a heart murmur, which can be heard with a stethoscope. The aortic valve may become stretched and may leak. Some people with Marfan syndrome develop an arrhythmia (abnormal heart rhythm). Over time, the heart muscle may enlarge and weaken, known as cardiomyopathy. It can progress to heart failure.
The walls of the blood vessels, especially the aorta (the artery that carries blood from the heart to the rest of the body) become weak and stretch. This increases the risk of aortic aneurysm, aortic dissection (a tearing or separating of the layers of the aorta), or rupture (bursting). This can be life threatening.
Your healthcare provider will ask about your symptoms and medical history. You will have a physical exam. You may have:
Other tests, such as an eye exam, chest X-ray, MRI, or CT scan may also be done.
Treatment depends on which connective tissues are affected and how severe the problems are. Medicines may be prescribed to prevent or control complications. Beta blockers decrease the forcefulness of the heartbeat and the pressure in the arteries. This prevents or slows enlargement of the aorta. Beta blockers can also help with palpitations.
Surgery may also prevent complications. Surgery may be recommended to prevent rupture of the aorta when the risk of rupture is high. During surgery a part of the aorta may be replaced with man-made material.
A leaky aortic or mitral valve can damage the main pumping chamber of the heart, or even cause heart failure. In these cases, surgery to replace or repair the valves may be necessary.
While Marfan syndrome is a lifelong disorder, the outlook has improved in recent years. In the past, people with Marfan syndrome usually died from heart problems before the age of 40. However, with improvements in recognition and treatment of the disease, people with Marfan syndrome now have a life expectancy similar to that of the average person.
Follow the treatment your healthcare provider prescribes. In addition:
