Description, causes and Risk Factors:
A connective tissue multisystemic disorder characterized by skeletal changes (arachnodactyly, long limbs, joint laxity, pectus), cardiovascular defects (aortic aneurysm which may dissect, mitral valve prolapse), and ectopia lentis; autosomal dominant inheritance, caused by mutation in the fibrillin-1 gene (FBN1) on chromosome 15q.
Alternative Name: Marfan disease.
Marfan syndrome is a rare disorder that causes the connective tissue in the body to be weaker than it should be. Connective tissue is the material that holds together many structures in your body, such as tendons, ligaments, cartilage, blood vessels, heart valves, and more. Because the connective tissue is weaker in Marfan patients, it affects how the heart and blood vessels, eyes, and skeleton are formed and how they work.
Marfan syndrome is thought to be an inherited disease that is caused by a defect in a gene. The defect in the gene that causes Marfan syndrome controls the production of a special protein found in the connective tissue. This protein is called fibrillin. Without enough proper fibrillin, the walls of the major arteries are weakened. If the aorta (the main blood supplier to the body) is affected, it gets bigger (or dilates), making it weaker. The weakened area of the aorta can bulge outward, creating an aortic aneurysm. Or, the aorta can tear, and blood can leak through these tears and between the tissue of the aortic wall. This is called aortic dissection.
If the aorta is stretched and weakened, this can also affect the aortic valve. In some patients, blood leaks backward through the valve instead of moving in the proper one-way, forward flow. This is called regurgitation. If too much blood flows backward, only a small amount can travel forward to your body's organs. Your heart tries to make up for this by working harder, but with time your heart will become enlarged (dilated) and less able to pump blood through the body.
About 50,000 people in the United States are diagnosed with the condition each year. Marfan syndrome can affect both men and women. Because the gene defect can be passed down to children.
The signs and symptoms of Marfan syndrome develop over time. Only about 40% to 60% of patients with Marfan syndrome have symptoms, usually mitral valve prolapse or problems with the aorta.
The signs and symptoms of Marfan syndrome can be different in each patient, so diagnosing the condition can be hard. Here is a list of some of the tests that may be used to diagnose Marfan syndrome:
A physical examination and a history that includes information about your family history of diseases.
Computed tomography (CT or CAT scan) is an x-ray technique that uses a computer to create cross-sectional images of the body, in this case the aorta.
Magnetic resonance imaging (MRI) is a scan that lets doctors see inside your body without having to perform surgery. The test gives doctors a detailed picture of the heart and the aorta.
Echocardiography can be used to see valve function, heart wall motion, and overall heart size.
Because Marfan syndrome affects people in different ways, different types of treatment are needed. Some patients may not need any treatment at all. Some patients may need to take beta-blockers to lower heart rate and blood pressure. And for others, surgery may be needed if an aneurysm forms in the aorta or there is a problem with the aortic or mitral valves.
If you have Marfan syndrome, you should talk to your doctor about taking antibiotic medicine before dental procedures or general surgery. The medicine will prevent any bacteria that might enter the bloodstream during the procedure from causing an infection in the heart valves.
Patients may also need to avoid strenuous exercise or playing any contact sports. Women should talk to their doctor and a genetic counselor before becoming pregnant.
For both children and adults, appropriate medical care, accurate information, and social support are key to living with the disease. Genetic counseling may also be helpful in understanding the disease and its potential impact on future generations.
Scientists are approaching research on Marfan syndrome from a variety of perspectives. One approach is to better understand what happens once the genetic defect or mutation occurs. How does it change the way connective tissue develops and functions in the body? Why are people with Marfan syndrome affected differently? Scientists are searching for the answers to these questions both by studying the genes themselves and by studying large family groups affected by the disease. A newly developed mouse model that carries a mutation in the fibrillin gene may help scientists better understand the disease.
Other scientists are focusing on ways to treat some of the complications that arise in people with Marfan syndrome. Clinical studies are being conducted to evaluate the usefulness of certain medications in preventing problems with the aorta. Researchers are also working to develop new surgical procedures to help improve the cardiac health of people with Marfan syndrome.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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