Cedars-Sinai Heart Institute - Questions about Marfan Syndrome

Questions about Marfan Syndrome

I have Marfan syndrome, and recently my ascending aorta was 3.9 cm when measured. I am being treated with a beta blocker. How often should my aorta be checked? What is the guideline for surgical replacement of the ascending aorta in a Marfan patient?

An annual check up is recommended as long as there are no symptoms such as chest or back pain. Transthoracic echocardiography (TTE) is used to measure the aorta of children. Adults will have either a CT scan or MRI to measure their aorta. When the aorta reaches 4.0 cm, patients should obtain their first surgical consultation at an appropriate center. At this time, an MRI or CT scan will be performed, even in children. These tests evaluate the entire aorta, not just the ascending portion. The frequency of monitoring increases when the aorta reaches 4.0 cm. From this point on, an echocardiogram is done every six months. Elective surgery is generally recommended when the aorta reaches 4.5 cm. One more CT scan or MRI will be performed prior to surgery. The rate of growth of the aorta is also a consideration for surgery. If the aorta increases by 5 mm within 6 months this indicates a fast progression of the disease, and surgery should be done within that time frame. The first choice for medical treatment is a beta blocker. There may be a need for additional medical treatment with an ACE inhibitor to maintain the systolic blood pressure between 105 and 110.

I have Marfan syndrome and have had several surgeries to correct problems with my ankles and chest. About three years ago I experienced descending aortic dissection, for which I was hospitalized. At first surgery was planned, but it was not done. The descending aorta has enlarged and is now about 4.5 cm. My ascending aorta is not enlarged. Do I need surgery on my descending aorta?

Yes, a dissected descending aorta in the presence of the Marfan syndrome does require surgery, and it is suggested that surgery be done when the enlargement reaches 4.5 cm. Some patients may wish to delay surgery until the descending aorta reaches 4.8 cm. In this case, the diagnostic study of the aorta is repeated every 6 months until 4.8 cm is reached. When making this decision, it is important for patients to know that there is an increased risk of rupture at 4.8 cm compared to 4.5 cm. The increased risk of rupture is in the range of 5%.

I have been evaluated for Marfan syndrome and told that I do not have it, but that I am "Marfan-like" in some ways. I am quite tall, have very flexible joints and was very athletic in school. Recently I have felt pressure and some pain in my chest, and a CT scan showed my ascending aorta is enlarged to 4.0 cm. I was told that I should have a CT scan again in 6 months. Should I accept this pressure and pain in my chest until then?

Regardless of whether or not all aspects of Marfan syndrome are present, enlargement of the aorta indicates abnormal tissue that must be carefully evaluated and monitored by an aortic specialist. Symptoms of chest and back pain in the presence of an enlarged aorta may indicate either aortic growth or aortic dissection. The first step is to determine whether or not aortic dissection is present. Acute dissection of the ascending aorta requires emergency surgery. If dissection is not present, it is possible that the pain is caused by aortic wall tension due to high blood pressure. If this is the case, blood pressure reduction may eliminate the pain. Diligent medical treatment of blood pressure is required, keeping the systolic pressure under strict control between 105 and 110.

Other common causes of chest and back pain should also be eliminated. Scoliosis and other spinal problems may also be present in those with connective tissue disorders and may be the source of the pain. It is important not to confuse other sources of back pain with the aorta when a low risk aortic pathology is present. If the pain does not dissipate with controlled blood pressure and other common sources of back and chest pain have been eliminated, then it is possible that the pain is due to the aorta enlarging and surgery would be indicated. Consultation with a specialist at an aortic surgical center should be sought. Ongoing follow up, in the form of frequent check ups including repeated diagnostic studies within three to six months, is required.

I am a 35-year-old woman who has Marfan syndrome. Recently I began to experience chest pain when I do things like walking upstairs or doing household tasks, such as vacuuming. My primary care physician thinks this may be angina and suggested a nuclear medicine test to check on my coronary arteries. I do not have high cholesterol or other risk factors for coronary artery disease. Could this pain be from my aorta, which is enlarged to about 3.8 cm?

Those with connective tissue disorders, including the Marfan syndrome, have a natural protection from plaque formation in the coronary arteries. Typically they do not experience coronary artery blockage or the pain of angina that accompanies it. There is another possible reason for chest and back pain during activity in those with aortic disease. Physical activity raises blood pressure, and it is possible that even a slight increase in pressure could place sufficient tension on the aortic wall to cause pain. This is called a symptomatic aorta. Medical treatment to appropriately control blood pressure and reduce aortic wall tension may eliminate chest and back pain in these situations. It is important to be under the care of an aortic specialist for evaluation of pain and medical treatment of blood pressure.

I have been told that I will soon need surgery to replace my aortic valve and enlarged ascending aorta. Even though my arch and descending aorta are not enlarged, is it possible to replace my entire aorta with the same surgery so that I will not need any more aortic surgery in the future?

Assuming the patient is an appropriate surgical candidate, surgery to replace the entire aorta is indicated in the specific situation where the entire aorta is severely enlarged and dissected. If there is no aneurysmal enlargement of the arch or descending aorta, surgery to replace them will introduce additional unnecessary risk of morbidity and mortality. This more extensive surgery requires a larger incision, and introduces a greater chance of vocal cord injury, as well as postoperative breathing difficulty. The recovery time is also longer.

I have lost several family members due to aortic dissection or aortic aneurysms related to Marfan syndrome. My own aorta is beginning to enlarge and is currently about 4.0 cm. I have read that aortic aneurysm surgery is performed when the aorta is at 5.0 cm. I have also read that surgery is done when the aorta has doubled in size. I am worried because my family members died before their aortas reached that size. Is it possible for me to safely have my aortic surgery done before it reaches these size guidelines?

In the presence of the Marfan syndrome, following general rules, such as waiting until the aorta doubles in size or reaches 5.0 cm, is not advisable. Marfan patients are exposed to an increased risk of dissection and mortality while waiting for the aorta to reach 5 cm. When a family history of aortic dissection or rupture at relatively small aortic diameters is present, particularly careful monitoring and planning of elective surgery is necessary. Generally, when the aorta reaches 4.0 cm, Marfan syndrome patients should be evaluated by an expert aortic surgeon and placed on a supervised program in anticipation of elective surgery when the aorta reaches 4.5 cm. The mortality of Marfan patients who enter surgery with acute aortic dissection is 50%. However, the mortality for those who undergo elective aortic surgery can be less than 2%. This great difference indicates the importance of properly timed elective surgery. Please see Timing of Elective Surgery for additional information.