Diagnosis of Marfan Syndrome

No single test can diagnose Marfan syndrome. Instead, to diagnose the disorder, your doctor may:

  • Ask about your family and medical history, specifically about any family members with the disorder or who had an early, unexplained, heart-related condition.
  • Perform a physical examination, which can include:
    • Measuring how long your arms and legs are in proportion to your trunk.
    • Examining your eyes, skin, and musculoskeletal system.
    • Listening to your heart and lungs.
  • Order diagnostic testing to evaluate heart, lungs, and eyes that may include:
    • CT scan or MRI of the chest to check your heart, lungs, and surrounding tissues.
    • Echocardiography to evaluate the heart structure, valves inside the heart, and the blood vessels around the heart.
  • Order testing to rule out other conditions that may be causing your symptoms.

In most cases, genetic testing is helpful to screen the genes that cause Marfan syndrome and related conditions.

Treatment of Marfan Syndrome

There is no cure for Marfan syndrome; instead, doctors focus treatment to relieve symptoms and prevent additional problems or complications. Treatment depends on the area of the body affected by the syndrome and may include medications, other treatments, and surgery.

Doctors may prescribe the following medications:

  • Beta blockers or angiotensin receptor blockers to help manage problems with your heart. These medications can suppress abnormal growth of the aorta.
  • Anti-inflammatory and pain medications.

Other treatments may include:

  • Braces to help keep curves in the spine from getting worse.
  • Glasses or contacts to help correct vision problems.
  • Lifestyle changes that include:
    • Avoiding high-exertion or contact sports. Mild to moderate activities, such as swimming, walking, and bicycling, are generally encouraged. Talk to your doctor before beginning any exercise program.
  • Physical or occupational therapy to help you strengthen muscles and manage orthopaedic problems and complications.

Some people with Marfan syndrome may need surgery to correct the problems or complications that can happen. Surgeries may include:

  • Orthopaedic surgery to correct more serious problems with the skeleton and sternum.
  • Eye surgery to treat some complications, including a retinal detachment, cataracts, or severe lens dislocation.
  • Cardiovascular surgery to correct problems with the heart or blood vessels.

Who Treats Marfan Syndrome?

Health care providers who may treat Marfan syndrome include:

  • Cardiologists, who treat issues with the heart.
  • Cardiothoracic surgeons, who specialize in surgery of the heart, lungs, and other organs and tissues in the chest.
  • Clinical geneticists, who diagnose and treat children and adults with genetic disorders.
  • Dental providers, such as orthodontists and oral-maxillofacial surgeons.
  • Dermatologists, who specialize in conditions of the skin, hair, and nails.
  • Mental health professionals, who provide counseling and treat mental health disorders, such as depression and anxiety.
  • Nurse educators, who help you understand your condition and help start treatment plans.
  • Occupational therapists, who teach how to safely perform activities of daily living.
  • Ophthalmologists, who treat eye disorders.
  • Orthopaedists, who treat bone problems.
  • Pediatricians, who diagnose and treat children.
  • Physical therapists, who teach ways to build muscle strength.
  • Primary care doctors, such as family physicians or internal medicine specialists, who help coordinate care between the different health providers and treat other problems as they arise.
  • Pulmonologists, who treat lung problems.

Living With Marfan Syndrome

Treating and living with Marfan syndrome, and its complications, is a lifelong process. However, advances in treatment make it possible for people with the disorder to have long, productive lives. The following tips can help you manage the disorder:

  • Ask your doctors how often you should schedule follow-up visits. Regular visits are important in managing Marfan syndrome and preventing complications. The visits may include regular eye exams, image tests to check for heart and lung problems, and an evaluation of your skeleton and growth.
  • Reach out for support. Talk to your family and friends about the disorder and your feelings. Consider joining a community or online support group.
  • Seek counseling or talk to a health care professional if you feel depressed or anxious about Marfan syndrome and its effects on your body. 
  • Eat a healthy well-balanced diet rich in fruits, vegetables, and whole grains.
  • Lower emotional stress, when possible, that may raise your blood pressure or heart rate.
  • Consider wearing medical identification to notify providers about your condition during an emergency.
  • If you smoke, quit. Smoking can have a negative impact on both your bone and lung health.

Women with Marfan syndrome can have healthy pregnancies. However, the pregnancy is high risk because it can add stress on the heart and blood vessels. If you are thinking about getting pregnant, talk to your doctor. Planning helps doctors treat problems prior to the pregnancy to keep both the mother and baby healthy.

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