Marfan syndrome is an inherited disease that affects the connective tissue. Connective tissue is the most abundant tissue in the body and is a vital component to supporting the body’s organs. Its primary purpose is to hold the body together and provide a framework for growth and development. It provides the strength and support to tendons, cartilage, heart valves, and many other parts of the body, as well as strength and elasticity to the blood vessels.
For people with Marfan syndrome, the chemical makeup of the connective tissue isn’t normal and as a result is not as strong as it should be.
Because connective tissue is found throughout the body, Marfan syndrome can affect many parts, including the bones, eyes, heart and blood vessels, nervous system, skin, and lungs.
One of the biggest threats of Marfan syndrome is to the aorta, the artery that carries blood from the heart to the rest of the body. Marfan syndrome can weaken the inner layers of the aorta and cause it to split open (dissect). Blood then gets between the layers causing more splitting, usually down the aorta and away from the heart. Aortic dissection can be deadly.
What Causes Marfan Syndrome?
Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin, an essential components of connective tissue that appears to contribute to its strength and elasticity.
In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with the disorder. People with Marfan syndrome have a 50% chance of passing along the disorder to their children. In rare cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred to as a “variable expression” genetic disorder, since everyone with Marfan syndrome has the same defective gene, but not everyone experiences the same symptoms to the same degree.
Marfan syndrome is present at birth. However, the condition may not be diagnosed until adolescence or young adulthood. It is fairly common, affecting 1 in 5,000 Americans. It is found in people of all races and ethnic backgrounds.
How Is Marfan Syndrome Diagnosed?
There is not one single test that tells you if you have Marfan syndrome. The doctor will perform a thorough physical exam of the eyes, heart and blood vessels, and muscle and skeletal system, obtain a history of symptoms and information about family members that may have had the disorder, to determine if you have it.
Other tests, such as a chest X-ray, an electrocardiogram (ECG), and an echocardiogram will be used to evaluate changes in the heart and blood vessels, and detect heart rhythm problems.
If sections of the aorta are unable to be visualized through echocardiogram, or a dissection is already suspected, a transesophageal echocardiogram (TEE), MRI, or CT scan may be needed.
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