Heart Disease and Marfan Syndrome
How Is Marfan Syndrome Diagnosed?
Genetic testing alone cannot tell you if you have Marfan syndrome, as there are other connective tissue disorders.
If the disease is suspected, the doctor will perform a thorough physical exam of the eyes, heart and blood vessels, and muscle and skeletal system, obtain a history of symptoms and information about family members that may have had the disorder, to determine if you have it.
Other tests, such as a chest X-ray, an electrocardiogram (ECG), and an echocardiogram will be used to evaluate changes in the heart and blood vessels, and detect heart rhythm problems.
If sections of the aorta are unable to be visualized through echocardiogram, or a dissection is already suspected, a transesophageal echocardiogram (TEE), MRI, or CT scan may be needed. The scans can also be used to check the lower back for signs of dural ectasia, a back problem that is common in people with Marfan syndrome.
Other diagnostic tests for Marfan syndrome include a slit lamp eye exam in which the doctor will check for dislocated lenses.
Note: Marfan syndrome is not the only genetic disorder that affects connective tissue. If a person doesn't meet the criteria for Marfan, he or she may have Ehlers-Danlos syndrome, Loeys-Dietz syndrome, MASS phenotype, familial aortic aneurysm, and Sticklers syndrome.
How Is Marfan Syndrome Treated?
Marfan syndrome requires a treatment plan that is individualized to the patient's needs. Some people need regular follow-up appointments with their doctor, and during the growth years, routine cardiovascular, eye, and orthopedic exams. Others may need medications or surgery. The approach depends on the structures affected and the severity:
Medications are typically not used to treat Marfan syndrome. However, your doctor may prescribe a beta-blocker, which decreases the forcefulness of the heartbeat and the pressure within the arteries, thus preventing or slowing the enlargement of the aorta. Beta-blocker therapy is usually started when the person with Marfan syndrome is young.
Some people are unable to take beta-blockers because they have asthma or because of the medication's side effects, which may include drowsiness or weakness, headaches, slowed heartbeat, swelling of the hands and feet or trouble breathing and sleeping. In these cases, another medication called a calcium channel blocker may be recommended.