Life Expectancy of Someone With Marfan Syndrome

Syringomas on the Eyelids of a Marfan Syndrome Patient. Marfan syndrome affects different people in different ways. Image Source: Color Atlas of Pediatric Dermatology Samuel Weinberg, Neil S. Prose, Leonard Kristal Copyright 2008, 1998, 1990, 1975, by The McGraw-Hill Companies, Inc. All rights reserved.

Marfan syndrome is a rare disorder; however, it is the most common inherited disorder of connective tissue.

• In Marfan syndrome, the connective tissue is weaker than normal, so it stretches, bulges, or tears.
• This syndrome most commonly affects the heart, eyes, blood vessels, skin, and skeleton.
• In most cases, the disease tends to worsen with age.
• The serious condition of Marfan syndrome is when a patient has an enlarged aorta (the large blood vessel that carries blood from the heart to the rest of the body) this may result in complications that are usually life-threatening if not treated.

Other signs and symptoms of Marfan syndrome include:

• Disproportionately long arms, legs, and fingers
• Flat feet
• Tall and slender build
• A breastbone that protrudes outward or dips inward
• A high, arched palate and crowded teeth
• Extreme nearsightedness
• Heart problems: The aorta may become stretched and may tear (aortic dissection) or burst (aortic rupture). They can also develop leaking heart valves that can be detected by a doctor as a heart murmur.
• An abnormally curved spine
• Tiredness, chest pain, and shortness of breath are noticed in severe cases

The causes of Marfan syndrome include:

• Marfan’s syndrome is a hereditary condition in 75% of cases. In the remaining 25% of cases, it is caused by a new gene mutation. The condition is inherited dominantly, and therefore, children of a person with Marfan’s syndrome have a 50% chance of developing the condition. People with Marfan syndrome are born with the disorder, although they may not be diagnosed with it until later in life.
• Marfan syndrome is caused by a mutation in a gene that determines the structure of fibrillin (a defect in the gene on chromosome 15 that determines the structure of fibrillin). Fibrillin is an important part of human connective tissue. Fibrillin-1 is a protein present in the body’s connective tissues. The genetic defect of fibrillin-1 leads to an increase in the production of another protein, transforming growth factor-beta or TGF-B. Its overproduction is responsible for the features present in a person with Marfan syndrome. Connective tissue helps hold the body together by binding tendons to muscles and muscles to bones and is made of microscopic fibers. This tissue provides the stretchy strength of tendons and ligaments around joints and in blood vessel walls. In Marfan’s syndrome fibrillin is abnormal, which causes tissue to become unusually stretchy and weak causing body abnormalities.

There is no cure established for Marfan syndrome yet. Treatment focuses on preventing the various complications of the disease.

• Doctors often prescribe blood pressure-lowering drugs to prevent the aorta from enlarging and reduce the risk of dissection and rupture. If the aorta has significant enlargement (about 2 inches) or if it enlarges rapidly, the doctor may recommend an operation to replace a portion of the aorta with a tube made of synthetic material. This can help prevent a life-threatening rupture. The aortic valve may need to be replaced as well depending on symptoms.
• The vision problems may be corrected with glasses or contact lenses. Sometimes, surgery may also be necessary to treat eye problems.
• Bracing and surgery may be needed to treat spine disorders.
• Surgical options are available to correct the appearance of a sunken or protruding breastbone.