People who are accurately diagnosed, adapt proper lifestyles and receive appropriate medical and surgical management may live for a normal life span (into their 70s). However, there are no guarantees. Having Marfan syndrome does not mean patients might not acquire other conditions that are common in the aging population. Marfan syndrome affects two to three persons per 10,000 of the population, affecting both sexes equally. It is similar worldwide, regardless of geography or ethnicity. Prior to the availability of treatment, life expectancy was severely curtailed: 50% of men died by the age of 40 years, and 50% of women by the age of 48 years. The average age of death was 32. The leading cause of death in Marfan syndrome is heart disease. One in 10 patients may have a high risk of death with this syndrome due to heart problems.
Despite the high risk for Marfan related cardiovascular problems, the average life expectancy of those with Marfan syndrome is nearly 70 years. The life expectancy in this syndrome has increased to greater than 25% since 1972. Advances in the management of the cardiovascular manifestations of this syndrome have led to a significant decrease in the death rate that is associated with this condition. Regular medical monitoring is essential for people with Marfan syndrome, especially testing for changes in the heart and eye health. Patients with Marfan syndrome may lead a normal and active lifestyle with a few limitations.
What is Marfan syndrome?
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 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 is noticed in severe cases
What is the cause of Marfan syndrome?
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 (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.
Can Marfan syndrome be treated?
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.
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Heart failure (congestive) is caused by many conditions including coronary artery disease, heart attack, cardiomyopathy, and conditions that overwork the heart. Symptoms of heart failure include
- congested lungs,
- fluid and water retention,
- fatigue and weakness, and
- rapid or irregular heartbeats.
There are two types of congestive heart failure, systolic or left-sided heart failure; and diastolic or right-sided heart failure. Treatment, prognosis, and life-expectancy for a person with congestive heart failure depends upon the stage of the disease.
Marfan syndrome is hereditary (genetic) condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics:
- Dislocation of one or both lenses of the eye
- A protruding or indented breastbone
- Flat feet
- Aortic dilatation
- Dural ectasia (a problem with the sac surrounding the spinal cord)
- Stretch marks
- Collapsed lung
Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.