People with Marfan syndrome are often -- but not always -- quite tall, with a slender build and loose joints. To diagnose the condition, a team of specialists examines the typically affected areas for characteristic signs of Marfan syndrome. A medical geneticist usually coordinates these examinations for a final diagnosis.
How Does Marfan Syndrome Affect the Heart?
Problems with the cardiovascular system are the most serious feature of Marfan syndrome. They include:
- Weakened walls in the major arteries. The aorta (the main artery leaving the heart) may dilate (expand), causing its wall to get thinner and weaker. When the heart is pumping very hard, such as during strenuous exercise, the wall can tear and separate. In some cases, the wall can form an aneurysm, a dangerous bulge that can suddenly burst.
- Mitral valve prolapse. People with Marfan syndrome often have an oversized mitral valve, the valve between the two chambers on the left side of the heart, which allows blood to flow only in one direction. An oversized mitral valve can cause a mitral valve prolapse (MVP). With MVP, the valve bulges back into the left atrium and may allow blood to flow back with it. This may cause no symptoms, but it may cause fatigue, chest pain or fainting.
How Are These Problems Handled?
People with Marfan syndrome may need to avoid vigorous exercise and heavy lifting. Drugs to lower blood pressure may be necessary to minimize damage to the aorta. In some cases, surgery is necessary to repair the aortic wall. In rare cases, surgery is used to repair a severe mitral valve prolapse.
Because people with Marfan syndrome are at risk for developing these problems, they should see a cardiologist as soon as they are diagnosed and regularly thereafter.
Sources:
"About Marfan Syndrome: Diagnosis" marfan.org. 2005. National Marfan Foundation. 15 Oct. 2008 <http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=3>.
"About Marfan Syndrome: What is Marfan Syndrome?" marfan.org. 2005. National Marfan Foundation. 15 Oct. 2008 <http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=2>.
"Heart and Blood Vessels (Cardiovascular System)" marfan.org. 2005. National Marfan Foundation. 15 Oct. 2008 <http://www.marfan.org//nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=158&menu_item_id=22>.
"Marfan Syndrome" americanheart.org. 2008. American Heart Association. 15 Oct. 2008 <http://www.americanheart.org/presenter.jhtml?identifier=4672>.
