Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. Even among members of the same family, the signs and symptoms of Marfan syndrome vary widely — both in their features and in their severity.
Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome. In some cases, a person may have some features of Marfan syndrome, but not enough of them to be diagnosed with the disorder.
If your doctor suspects Marfan syndrome, one of the first tests he or she may recommend 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 need to have regular imaging tests to monitor the size and condition of your aorta.
Eye exams that may be needed include:
- Slit-lamp exam. This test checks for lens dislocation, cataracts or a detached retina. Your eyes will need to be completely dilated with drops for this exam.
- Eye pressure test. To check for glaucoma, your eye doctor may measure the pressure inside your eyeball by touching it with a special tool. Numbing eyedrops are usually used before this test.
Genetic testing is often used to confirm the diagnosis of Marfan syndrome. If a Marfan mutation is found, family members can be tested to see if they are also affected. You may want to talk to a genetic counselor before starting a family, to see what your chances are of passing on Marfan syndrome to your future children.
While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing.
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 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 vision problems associated with a dislocated lens in your eye often can be corrected with glasses or contact lenses.
Surgical and other procedures
Ascending aortic root aneurysm procedure
An ascending aortic root aneurysm procedure may be done in two ways. In aortic root replacement, your surgeon removes a section of your aorta and your aortic valve. The aortic section is replaced with an artificial tube (graft). The aortic valve is replaced with a mechanical or biological valve (bottom right image). Some people have valve-sparing aortic root repair (top right image), in which the aortic valve remains in place.
Depending on your signs and symptoms, procedures might include:
- Aortic repair. If your aorta's diameter reaches about 2 inches (50 millimeters) or if it enlarges rapidly, 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. When there is significant scoliosis, a consultation with a spine expert is necessary. Bracing and surgery are needed in some cases.
- Breastbone corrections. Surgical options are available to correct the appearance of a sunken or protruding breastbone. Because these operations are often considered to be for cosmetic purposes, 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.
Video: Valve-Sparing Aortic Root Replacement
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 disorder can be extremely difficult for both adults and children. Adults may wonder how the disease will affect their careers, their relationships and their sense of themselves. And they may worry about passing the defective gene to their children.
But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of childhood and adolescence may be exacerbated by the disease's effect on appearance, academic performance and motor skills.
Helping children cope
Working together, parents, teachers and medical professionals can provide children with both emotional support and practical solutions for some of the more distressing aspects of the disease. For example, children with Marfan syndrome may struggle in school because of vision problems that can be corrected 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
People who have Marfan syndrome often find it helpful to talk with others facing the 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 cardiologist, a doctor who specializes in heart and blood vessel disorders
- An ophthalmologist, a doctor who specializes in eye disorders
- An orthopedist, a doctor who specializes in structural problems of the skeleton
- A geneticist, a doctor who specializes in genetic disorders
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 medications and supplements
What to expect from your doctor
All your doctors will want to hear about your specific symptoms, and whether anyone in your family has had Marfan syndrome or experienced an early, unexplained heart-related disability or death.