By: Brock Darnell
What is Marfan's Syndrome?
Marfan's Syndrome is an inherited genetic disorder that effects the connective tissue of the body. The most serious manifestations involve defects of the heart valves and aorta, which may lead to early death if not properly managed. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
What Causes this Disorder?
The syndrome is caused by the misfolding of fibrillin-1, a glycoprotein which forms elastic fibers in connective tissue and contributes to cell signaling activity by binding to and sequestering transforming growth factor beta (TGF-β). The mutated fibrillin binds poorly to TGF-β, which results in an accumulation of excess TGF-β in the lungs, heart valves, and aorta. This in turn causes abnormal structure and function of vascular smooth muscle and reduced integrity of the extracellular matrix, which weaken the tissues and cause the features of Marfan syndrome.
People with Marfan's May present:
-A tall, thin build.
-Long arms, legs, fingers, and toes and flexible joints.
-Scoliosis, or curvature of the spine.
-A chest that sinks in or sticks out.
-An abnormal heart murmur.
How to Diagnose
A Marfan diagnosis can often be made after exams of several parts of the body by doctors experienced with connective tissue disorders, including:
- A detailed medical and family history, including information about any family member who may have the disorder or who had an early, unexplained, heart-related death. Use our Family Health History Packet to help you collect this information.
- A complete physical examination.
You should also have tests to identify Marfan features that are not visible during the physical exam, including:
- Echocardiogram. This test looks at your heart, its valves, and the aorta (blood vessel that carries blood from the heart to the rest of the body).
- Electrocardiogram (EKG). This test checks your heart rate and heart rhythm.
- An eye examination, including a “slit lamp” evaluation to see if the lenses in your eyes are out of place. It is important that the doctor fully dilates the pupils.
- Other tests, such as a computerized tomography (CT) scan or magnetic resonance imaging (MRI) of the lower back. These tests can help your doctor see if you have a back problem that is very common in people with Marfan syndrome called dural ectasia (swelling of the sac around the spinal column).
Marfan's SYndrome occurs in 1 in every 5,000 births.
Can it be Prevented?
The disorder is genetic and random; therefore, it can not be prevented unless the gene is discovered before two people attempt to have a child.
Current Treatment Options
While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. In the past, people who had Marfan syndrome rarely lived past 40. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span.
Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection and rupture. The most commonly used drugs are beta blockers, which cause your heart to beat more slowly and with less force. Other blood pressure drugs, such as losartan (Cozaar), also show promise.
A dislocated lens in your eye can be treated effectively with glasses or contact lenses that refract around or through the lens. Surgery to replace the lens also may be an option.
Surgical and other procedures
Depending upon your signs and symptoms, procedures might include:
- Aorta repair. If your aorta's diameter enlarges quickly or reaches a dangerous size — usually around 2 inches (5 centimeters) — your doctor may recommend an operation to replace a portion of your aorta with a tube made of synthetic material. This can help prevent a life-threatening rupture. Your aortic valve may need to be replaced as well.
- Scoliosis treatment. For some children and adolescents, doctors recommend a custom-made back brace, which is worn nearly continuously until growth is complete. If the curve in your child's spine is too great, your doctor may suggest surgery to straighten the spine.
- Breastbone corrections. If a sunken breastbone affects your child's breathing, surgery to repair the deformity may be an option, and insurance is likely to cover it. A protruding breastbone usually doesn't cause functional problems, but it may be a cosmetic concern — which may mean your insurance won't cover it.
- Eye surgeries. If parts of your retina have torn or come loose from the back of your eye, surgical repair is usually successful. If you have cataracts, your clouded lens can be replaced with an artificial lens.