Marfan’s syndrome is an inherited disorder involving the body’s connective tissues. Connective tissues of the body support and bind other tissues. The syndrome mainly affects the eyes, heart, blood vessels, and skeleton.
This condition is rare. Only 4 to 6 people of 100,000 have it. It affects females and males equally, of all races.
This syndrome is caused by a genetic defect (gene mutation). In 70% of cases, the genetic defect is passed from parents to children. Each child has a 50% chance of inheriting the disorder from a parent with the syndrome. Approximately 30% of Marfan’s cases are due to a new gene mutation.
No major symptoms are usually seen with Marfan’s syndrome, so it can be hard to diagnose in children. Features include eye conditions such as dislocation of the lens and nearsightedness; skeletal conditions such as tall height with long spidery fingers, an arm span greater than height, and chest deformities; heart valve abnormalities; and a positive family history.
The health care provider may suspect that the syndrome is present from the family history and a physical examination that shows certain abnormalities. No special test can diagnose the syndrome. Diagnosis isn’t usually made until early adulthood. Three of the four features mentioned must be present. An eye doctor (ophthalmologist) will also do a detailed eye examination. A cardiologist (specialist in heart diseases) will look for heart problems and do echocardiography. Echocardiography is a kind of ultrasound that can examine the heart valves. Blood tests may also be done for genetic testing.
The syndrome isn’t curable, but diagnosis and proper treatments prolong life. A medical team—geneticist, cardiologist, ophthalmologist, surgeons, and psychologist—will likely be involved in care. Heart and eye examinations done every year are important to both find problems and follow the progress of the disorder. Medicines such as beta-blockers may be prescribed to help the heart problems. Heart and blood vessel complications can be life-threatening and may mean that surgery is needed. Valve surgery may be done for severe disease. With surgery, most patients can live a normal life span. Without treatment, people live an average of about 35 years. The major cause of death is enlargement (dilation) and bursting (rupture) of the aorta, the largest artery carrying blood from the heart to the body.
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Copyright © 2016 by Saunders, an imprint of Elsevier, Inc.
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