Marfan syndrome is a genetic disorder that affects the body’s connective tissue – the tissue that makes up our tendons, ligaments, joints, and muscles, including the heart, blood vessels, and eyes.
People with this condition are generally very tall and slim with long arms and fingers. It’s rare – roughly 1 in 3,000 to 5,000 people in Canada and the United States have it. While you may be born with Marfan syndrome, you may not know until later in life. There is no cure for this disorder.
Marfan syndrome is caused by an autosomal dominant gene. This means a person only needs to have one copy of the defective gene to have the disease. The abnormal gene is known as FBN1, located on chromosome 15 (in some cases, a second gene on chromosome 5 is also involved). Only one-quarter of cases are caused by "new" or spontaneous mutations. The majority of people inherit the gene from one of their parents. People with Marfan syndrome have a 50% chance of passing it on to each of their children.
The mutated gene affects the ability to produce fibrillin, a building block of connective tissue. This tough, elastic material connects parts of the body and provides structural support for many body tissues. With Marfan syndrome, the weakened connective tissue takes a toll on cartilage, tendons, ligaments, bones, heart valves, and large blood vessels.
Since symptoms vary from one person to the next, the different complications encountered with Marfan syndrome must be treated individually. Once the disorder has been diagnosed, a doctor – preferably somebody with experience treating Marfan syndrome – will keep close tabs on the bodily systems that are vulnerable to developing problems.
Medications called beta-blockers (e.g., propranolol*, atenolol, metoprolol) are prescribed to slow the heart rate and reduce the force of contractions, thus lowering the strain on the heart and reducing the risk of widening and tearing of the aorta. Angiotensin II receptor blockers (e.g., losartan) may be taken with or without beta-blockers to help slow the rate of aortic root enlargement.
The heart valves and aorta are monitored with regular echocardiograms. Valve problems and widening at the root of the aorta can be treated by surgically replacing a damaged section. Even though these are major surgeries, they’re usually successful and lifesaving. Because of the enormous strain pregnancy puts on the heart, pregnant women with Marfan syndrome must be closely monitored.
Annual visits to an ophthalmologist allow Marfan-related eye complications to be quickly diagnosed. Eyeglasses and contact lenses are usually enough to correct eye problems, but surgery may be also needed.
Curvature of the spine is treated using braces and physical therapy. For more extreme scoliosis, surgery is recommended to prevent progression and may even return the spine to its correct shape.
Antibiotics may be prescribed prior to dental procedures or other situations in which bacteria could enter the bloodstream. This is done to prevent infection in people with heart valve problems or those who have artificial heart valves.
Exercise should be limited to non-strenuous activities, such as walking, cycling, or jogging, which can be done at your own pace. High intensity competitive or contact sports aren’t recommended.
Avoiding medications, such as decongestants, and foods containing caffeine is also recommended to prevent increases in blood pressure and to limit stretching of the connective tissue in the cardiovascular system.
It’s important to remember that early diagnosis and treatment prevent far more serious complications from developing. Despite the high risks associated with heart and blood vessel problems, people with Marfan syndrome have nearly the same life expectancy as those without this condition.
*All medications have both common (generic) and brand names. The brand name is what a specific manufacturer calls the product (e.g., Tylenol®). The common name is the medical name for the medication (e.g., acetaminophen). A medication may have many brand names, but only one common name. This article lists medications by their common names. For information on a given medication, check our Drug Information database. For more information on brand names, speak with your doctor or pharmacist.
All material copyright MediResource Inc. 1996 – 2025. Terms and conditions of use. The contents herein are for informational purposes only. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Source: www.medbroadcast.com/condition/getcondition/Marfan-Syndrome
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