Marfan syndrome (sometimes referred to as Marfan disease) is a relatively uncommon genetic disorder of the body’s connective tissue that can cause life-threatening heart problems. Marfan syndrome affects approximately 200,000 people in the United States.
Many patients with Marfan syndrome have no symptoms. When symptoms do occur, they are quite variable and may include palpitations or chest discomfort. Sometimes the condition is detected by a doctor’s visit, either due to an abnormality on physical exam (a murmur, for example) or an abnormal chest X-ray.
What Is Marfan Syndrome?
Marfan syndrome is a connective tissue disorder that causes the tissue to stretch and eventually tear. If the disorder is not detected early enough, the tissue that forms the aorta (the heart’s major blood vessel) can tear or rupture, resulting in aortic dissection or an aortic aneurysm. Marfan syndrome also can damage the heart valves.
Marfan syndrome also affects the skeleton, eyes, heart and blood vessels. The disorder is often characterized by:
- Excessive height
- Unusually long limbs
- Thin fingers and toes
- Sunken or protruding chest
- A dislocated lens in the eye
- Loose joints
- A long and narrow face with deeply set eyes
- Stretch marks in the absence of pregnancy or weightlifting
These physical symptoms usually begin to appear early in life, often in childhood.
In addition to cardiovascular complications, Marfan syndrome can cause glaucoma, cataracts, retinal detachment, eye lens dislocation, breathing difficulties and spine curvature problems.
What Causes Marfan Syndrome?
Marfan syndrome is caused by a genetic mutation. The disorder is usually inherited, but spontaneous cases occur. Having a parent with Marfan syndrome is the greatest risk factor.
Many primary care physicians never see a case of Marfan syndrome, so they may not be familiar with the signs and symptoms. The symptoms can vary significantly among individuals and the condition tends to worsen with age.
Early diagnosis is important before the disorder weakens the aorta. Unfortunately, there is no single conclusive test to identify Marfan syndrome. A diagnosis is usually made by the presence of a combination of symptoms and a family history of the condition. Tests that may be performed to lead to a diagnosis include:
Echocardiogram (also called echo) – This test uses sound waves to assess the function and structure of the heart muscle and valves.
Cardiac MRI (cardiac magnetic resonance imaging or CMR) – A noninvasive, sophisticated imaging procedure that uses large magnets and a computer to produce detailed images of the structure and function of the heart while it is beating.
CT scan – (computed tomography scan, also called CAT scan) – An imaging procedure that uses X-rays and computer technology to produce cross-sectional, detailed images of the body, including bones, muscles, fat and organs.
Electrocardiogram (EKG/ECG) – A test that records the electrical activity of the heart.
Genetic testing – DNA analysis for inherited genetic alterations that may increase risk of developing a disease or disorder.
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Diagnosis of Marfan syndrome is the first step. Treatment and follow-up care require expertise from cardiologists and other specialists familiar with the disorder. An echocardiogram, which measures blood flow through the heart’s chambers and valves, and chest X-rays may be included in regular exams to check the condition of the heart.
There is no specific treatment for Marfan syndrome. Rather, treatment addresses the symptoms or complications of the condition, particularly the cardiovascular complications that can be serious. In addition, people afflicted with Marfan syndrome usually need treatment for eye and skeletal problems related to the condition.
Some symptoms or complications can be treated with medication to decrease the heart rate and blood pressure. These medications may include beta blockers, angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARB) and calcium channel blockers.
Surgery may be required if Marfan syndrome results in weakening of the aortic wall, leading to development of an aortic aneurysm.
Valve-sparing aortic root replacement is surgery to replace the aortic root without replacing the aortic valve. In some cases, it is necessary to perform aortic valve replacement.
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