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Heart Disease and Marfan Syndrome

Posted by on Monday, September 13, 2010, 23:47
This news item was posted in A to Z Diseases, H, Heart category and has 3 Comments so far.

Heart Disease and Marfan Syndrome

Surgery and Marfan Syndrome
Surgery and Marfan Syndrome

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.
How Is Marfan Syndrome Treated?

Marfan syndrome requires a treatment plan that is individualized to the patient’s needs. Some people just need regular follow-up appointments with their doctor. Others may need medications or surgery. The approach depends on the structures affected and the severity.

Lifestyle issues

* Follow-up. Routine follow-up is important, including cardiovascular, eye, and orthopedic exams, especially during the growing years. Your doctor will discuss the frequency of follow-up with you.
* Activity. Activity guidelines vary depending on the extent of the disease and symptoms. Most people with Marfan syndrome can participate in some type of physical and/or recreational activities. Those with dilation of the aorta will be asked to avoid high intensity team sports, contact sports, and isometric exercises (such as weight lifting). Ask your cardiologist about activity guidelines for you.
* Pregnancy. Genetic counseling should be performed prior to pregnancy because Marfan syndrome is an inherited condition. Pregnant women with Marfan syndrome are also considered high-risk cases. If the aorta is normal size, the risk for dissection is lower, but not absent. Those with even slight enlargement are at higher risk and the stress of pregnancy may cause more rapid dilation. Careful follow-up, with frequent blood pressure checks and monthly echocardiograms is required during pregnancy. If there is rapid enlargement or aortic regurgitation, bed rest may be required. Your doctor will discuss with you the best method of delivery with you.
* Endocarditis prevention. People with Marfan syndrome who have heart or valve involvement or who have had heart surgery are at increased risk for bacterial endocarditis. This is an infection of the heart valves or tissue which occurs when bacteria enters the blood stream. To prevent this, antibiotics should be given prior to dental or surgical procedures. Check with your doctor about the type and amount of antibiotics you should take. A wallet card may be obtained from the American Heart Association with specific antibiotic guidelines.
* Emotional considerations. Learning you have a genetic disorder, such as Marfan syndrome, may affect you in many ways. You may feel angry, sad, or scared. This can be related to the knowledge of having a disease. You may need to make changes in your lifestyle and adjust to having careful medical follow-up the rest of your life. Or there may be financial concerns. It may be also concerning to think about risk to future children. It is important to seek medical care from a physician who has experience in treating Marfan syndrome. Get accurate information. It may also help to seek genetic counseling to help understand the disease and your risk for passing it on to your children. The National Marfan Foundation can help provide you with information and support.

Medications and Marfan Syndrome

Surgery and Marfan Syndrome
Surgery and Marfan Syndrome

Medications are not used to treat Marfan syndrome, however they may be used to prevent or control complications. One medication that may be used is called a beta-blocker. Beta-blockers decrease the forcefulness of the heartbeat and the pressure within the arteries, thus preventing or slowing the enlargement of the aorta. Beta-blocker therapy is usually started when the person with Marfan syndrome is young.

Some people are unable to take beta-blockers because they have asthma or because of the medication’s side effects, which may include drowsiness or weakness, headaches, slowed heartbeat, swelling of the hands and feet or trouble breathing and sleeping. In these cases, another medication called a calcium channel blocker may be recommended.

Surgery and Marfan Syndrome

The goal of surgery for Marfan syndrome is to prevent aortic dissection or rupture and to treat problems affecting the heart’s valves, which control the flow of blood in and out of the heart and between the heart’s chambers.

The decision to perform surgery is based on the size of the aorta, expected normal size of the aorta, rate of aortic growth, age, height, gender, and family history of aortic dissection. Surgery involves replacing the dilated portion of the aorta with a graft, a piece of man-made material that is inserted to replace the damaged or weak area of the blood vessel.

A leaky aortic or mitral valve (the valve that controls the flow of blood between the two left chambers of the heart) can damage the left ventricle (the lower chamber of the heart that is the main pumping chamber) or cause heart failure. In these cases, surgery to replace or repair the affected valve is necessary. If surgery is performed early, before the valves are damaged, the aortic or mitral valve may be repaired and preserved. If the valves are damaged, they may need to be replaced.

If surgery is needed, you should consult with a surgeon who is experienced in surgery for Marfan syndrome. People who have surgery for Marfan syndrome still require life-long follow-up care to prevent future complications associated with the disease.

What Is the Outlook for People with Marfan Syndrome?

A better understanding of Marfan syndrome combined with earlier detection, regular follow-up care and safer surgical techniques have resulted in a better outlook for people with this syndrome.

In the past, the average age of death for people with Marfan syndrome was 32 years old. Today, with the help of early diagnosis, appropriate management, and long-term follow-up care by an experienced team of health care providers, most people with the disorder live active, healthy lives with a life expectancy similar to that of the general population.

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