Diagnosis
Marfan syndrome can be challenging for healthcare professionals to diagnose because many connective tissue conditions have similar signs and symptoms. Even among members of the same family, the signs and symptoms of Marfan syndrome vary widely.
There is no single test for Marfan syndrome. The diagnosis is based on your medical and family history, your symptoms, and your imaging and genetic test results. Sometimes, a person may have some features of Marfan syndrome but not enough of them to be diagnosed with the condition.
Heart tests
If your healthcare professional suspects that you have Marfan syndrome, one of the first tests you may have is an echocardiogram. This test uses sound waves to capture real-time images of your heart in motion. It checks the condition of your heart valves and the size of your aorta. Other heart imaging options include computerized tomography (CT) scans and magnetic resonance imaging (MRI).
If you are diagnosed with Marfan syndrome, you'll likely need to have regular imaging tests to monitor the size and condition of your aorta.
Eye tests
Eye exams that you may need include:
- Slit-lamp exam. This test checks for lens dislocation, cataracts or a detached retina. Your care team dilates your eyes with drops for this exam.
- Eye pressure test. To check for glaucoma, your eye care professional may measure the pressure inside your eyeball by touching it with a special tool. Numbing eye drops are usually used before this test.
Genetic testing
Genetic testing is often used to confirm the diagnosis of Marfan syndrome. If the results show a Marfan mutation, family members can be tested to see if they also are affected. You may want to talk with a genetic counselor before starting a family to help you understand your chances of passing on Marfan syndrome to your future children.
Treatment
While there is no cure for Marfan syndrome, treatment can help prevent the various complications of the condition. You're checked regularly for signs that the damage caused by Marfan syndrome is getting worse.
In the past, people who had Marfan syndrome often died young. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more typical lifespan.
Medicines
Healthcare professionals often prescribe medicine to lower blood pressure. This helps prevent the aorta from enlarging, which lessens the risk of dissection and rupture. Evidence from clinical trials supports treatment with two types of blood pressure medicines — beta blockers and angiotensin receptor blockers.
Therapy
The vision issues associated with a dislocated lens in your eye often can be corrected with glasses or contact lenses.
Surgical and other procedures
Depending on your symptoms, procedures might include:
- Aortic repair. If your aorta's diameter reaches about 2 inches (50 millimeters) or if it enlarges rapidly, your care team may recommend an operation to replace a portion of your aorta with a tube made of synthetic material. This can help prevent a rupture. Your aortic valve may need to be replaced as well.
- Scoliosis treatment. When there is significant scoliosis, you may need to see a spine expert. You may need bracing and surgery.
- Breastbone corrections. Surgical options are available to correct the appearance of a sunken or protruding breastbone. Because these operations are often considered cosmetic, your insurance might not cover the costs.
- 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.
Lifestyle and home remedies
You may need to avoid competitive sports and certain recreational activities if you're at increased risk of aortic dissection or rupture. Increases in blood pressure, common in activities such as weightlifting, place extra strain on the aorta. Less intense activities — such as brisk walking, bowling, doubles tennis or golf — are generally safer.
Coping and support
Living with a genetic condition can be extremely hard for both adults and children. Adults may wonder how the disease might affect their careers, their relationships and their sense of themselves. And they may worry about passing the changed gene to their children.
Marfan syndrome can be especially tough for young people. The condition can make them feel self-conscious because it affects how they look, how they move and even how they do in school.
Helping children cope
Parents, teachers and medical professionals can work together to help children with Marfan syndrome. They can offer emotional support and practical solutions for some of the more challenging parts of the condition. For example, children with Marfan syndrome might have trouble in school because of vision changes, but these can be treated with glasses or contact lenses.
For most young people, cosmetic concerns are at least as important as academic ones. Parents can help by anticipating these concerns and offering solutions, such as:
- Contact lenses instead of glasses.
- A brace for scoliosis.
- Dental work for crowded teeth.
- Clothes that flatter a tall, thin frame.
Support groups
People who have Marfan syndrome often find it helpful to talk with others facing similar challenges. The Marfan Foundation provides a variety of support services online.
Preparing for your appointment
Marfan syndrome can affect many different parts of your body, so you may need to see a variety of medical specialists, such as:
- A doctor who specializes in heart and blood vessel conditions, called a cardiologist.
- A doctor who specializes in eye conditions, called an ophthalmologist.
- A doctor who specializes in structural issues of the skeleton, called an orthopedist.
- A doctor who specializes in genetic conditions, called a geneticist.
To make the best use of appointment time, plan ahead and have important information available, including:
- Detailed descriptions of all your symptoms.
- Details of your past medical history, including any previous surgeries.
- Past X-rays and echocardiogram reports, which often can be sent electronically.
- A list of all your medicines and supplements.
What to expect from your doctor
All your healthcare specialists want to hear about your symptoms. They also want to know whether anyone in your family has had Marfan syndrome or experienced an early, unexplained heart-related disability or death.