Marfan Syndrome (HCM) is a condition that affects the connective tissue of the body and causes damage to the heart, aorta, and other parts of the body. This complex condition requires a specialized and experienced approach to care.
Changes to the heart and blood vessels with Marfan syndrome
About 90% of people with Marfan syndrome develop changes in their heart and blood vessels:
The walls of the blood vessels, especially the aorta, the major artery that carries blood from the heart to the rest of the body, becomes weak as a result of Marfan syndrome and dilates (stretches).
This increases the risk of the following:
- aortic aneurysm (a bulging out, similar to a balloon),
- aortic dissection (a tearing or separating of the layers of the aorta)
- aortic rupture (bursting), which can result in medical emergency or even death.
The heart's valves, especially the mitral valve, can be affected by Marfan syndrome. The valve leaflets become floppy due to Marfan syndrome and do not close tightly, allowing blood to leak backwards across the valve (mitral valve prolapse, also called MVP).
Mitral valve prolapse increases the workload on the heart and may cause shortness of breath, feeling overly tired, or palpitations (fluttering in the chest). The abnormal flow may cause a heart murmur, which can be heard with a stethoscope. Over time, the heart may enlarge and heart failure may occur.
Another problem seen in Marfan syndrome is dilation (widening) of the aortic root, the area where the aorta meets the aortic valve. Marfan syndrome can cause the aortic valve to become stretched and leak.
Arrhythmia (abnormal heart rhythm) may occur in some Marfan syndrome patients. This is often related to MVP.
All portions of the aorta can dilate or dissect
Symptoms of Aortic Dissection
Most common symptom: Severe pain in the chest (front, back or both).
Less common symptoms: Pain in abdomen, numbness or weakness in one or both legs, loss of consciousness, symptoms of a stroke.
If you have these symptoms, call for emergency help (dial 9-1-1 in most areas)
Surgery for Marfan syndrome
Surgery for Marfan syndrome is aimed at preventing dissection or rupture and treating valve problems.
About 40% of Marfan syndrome patients will die immediately if aortic dissection occurs. The risk of death is between 1% and 3% per hour after the dissection event. Even with emergency surgery, the risk of death is between 10% and 20%. The goal is to perform surgery prior to the dissection occurring because:
- Early results are better (better than 98% survival)
- Long-term life expectancy is better.
The normal aorta measures about 1 inch (2.54 centimeters). When the aorta diameter is more than 4.7 centimeters, or if the aorta is enlarging at a rapid pace, surgery is recommended.
The decision to have surgery is based on the following:
- Size of the aorta
- Expected normal size of the aorta
- Rate of aortic growth
- Family history of aortic dissection
During non-emergency aorta surgery, the survival rate is greater than 98 percent.
Surgery involves a replacement of the dilated portion of the aorta with a graft. This can involve two techniques:
- Traditional method: replace the aorta with a graft and the aortic valve with a mechanical valve
- Valve sparing method: replace the aorta with a tube graft and re-implant the native valve
Repair of entire aorta with graft
During surgery, the heart surgeon removes the area of dissection or aneurysm. Due to the connective tissue disorder, the aorta is prone to tearing, so the heart surgeon must use great care.
A mechanical valve, attached to the end of the aortic graft, is sewn to the annulus (opening) of the aortic valve.
The coronary arteries are reattached to the aortic graft through small buttonholes cut into the graft. Then, the other end of the dacron graft is sewn to the tissue of the aorta.
Valve sparing re-implantation surgery
There are two methods for replacing the aorta without replacing the aortic valve:
- Valve sparing re-implantation method
- Valve remodeling method.
Both are used for young people whose aortas are not too enlarged and the aortic valve has not been damaged.
The valve sparing re-implantation method is preferred for those with Marfan Syndrome.
After aortic graft surgery, patients usually remain in the hospital 5 to 10 days. After a recovery period of six to eight weeks, return to activities is expected.
Graft with attached mechanical valve (Courtesy of St.Jude Medical™)
Valve remodeling surgery, aortic graft surgery. Compare the aortic aneurysm to the left with the normal heart to the right.
The coronary arteries branch off the aorta. The aorta is opened and the area of dissection is removed
The coronary arteries are separated from the diseased aorta. You can see the patient's native aortic valve.
The dacron graft is sewn to the annulus of the native valve
The coronary arteries are re-attached to the graft. The other end of the graft is sewn to the aorta.
The surgery is completed
Valve repair or replacement
A leaky aortic or mitral valve (regurgitation) resulting in changes in the left ventricle (left lower chamber of the heart, heart's major pumping chamber) or heart failure, require surgery to repair or replace the valve.
The mitral valve can be repaired or replaced. This can be done with traditional or minimally invasive techniques.
It is recommended that people with Marfan syndrome undergo surgery by heart surgeons who are experienced in this type of surgery. Those that undergo surgery, still require lifelong follow-up and preventive measures to prevent future progression of the disease. The majority of patients who have surgery prior to dissection do not need future surgeries. However, those that are operated on after dissection are at greater risk for future surgeries to repair other sections of the aorta.
A better understanding of Marfan syndrome combined with earlier detection, careful follow-up and safer surgical techniques have resulted in better outcomes for patients.
- Svensson, LG, Crawford ES. Marfan Syndrome and Connective Tissue Diseases, In Cardiovascular and Vascular Disease of the Aorta. pg. 84-104, WB Saunders, 1997. Philadelphia.
- Svensson, LG, Crawford ES, Coselli JS, et.al. Impact of cardiovascular operations and survival in the Marfan patient, Circulation, 1989;80(3Pt1);1233-42.
- Tsipouras P, Silverman DI, Bosner MS, et.al., Longer Lives for Marfan Syndrome Patients, Cardiology Review: Hypertension and Vascular Disease, 13: March 1996, 25-28.
- National Institute of Arthritis and Musculoskeletal and Skin Disease, Questions & Answers About Marfan Syndrome*, DN 3/99, AR-06 QA,
- National Marfan Foundation*, Marfan Syndrome: Cardiac Concerns, Nov. 1997,
- American Heart Association*
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