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Marfan syndrome


What is Marfan syndrome?

Marfan syndrome is an inherited connective tissue disorder. Connective tissue is like the glue that holds your cells together. It gives substance and support to your tendons, ligaments, blood vessels, cartilage, heart valves and many other structures. If you have Marfan syndrome, your connective tissue isn't normal so many of your body's structures aren't as firm as they should be – including structures in your heart. If your heart is affected, its valves may be oversized and may not function properly, which causes some blood to flow backwards when the heart pumps. If the aorta (the body's main artery which carries oxygen-rich blood out of the heart to the rest of the body) is affected, it may enlarge or split, leaking blood into your chest or abdomen. This is known as a dissecting aortic aneurysm. Marfan syndrome is inherited.

Symptoms

Symptoms of heart valve disorders, which are common with Marfan syndrome, include:

  • fatigue
  • dizzy spells
  • shortness of breath
  • faintness
  • an irregular pulse.
Diagnosis

There is no single, conclusive test for diagnosing Marfan syndrome. People with this disorder often have many characteristic traits. They are often tall and thin, with slender, tapering fingers, long arms and legs and curvature of the spine. They tend to suffer from eye and heart problems. Valve problems associated with Marfan syndrome may cause a heart murmur, which can be heard through a stethoscope. Valve disorders can be diagnosed using:

Treatment

Marfan syndrome cannot be cured, but its cardiac symptoms can be treated. Beta-blockers or other medication may be prescribed to regulate blood pressure and heart rhythms. In some cases a heart valve or part of the aorta may need to be replaced surgically.

You can lower your risk of developing other heart diseases and stroke by knowing and controlling your blood pressure, diabetes and blood cholesterol. It’s also important to lead a healthy lifestyle.

Talk to your doctor about the lifestyle changes that will benefit you the most.

Living with Marfan syndrome

It’s normal to feel worried or afraid after a diagnosis of heart disease. Find someone you can turn to for emotional support like a family member, friend, doctor, mental health worker or support group. Talking about your challenges and feelings could be an important part of your journey to recovery.

  • The recovery and support section is full of practical advice and tips to support you on your recovery journey.
  • Find peer support resources here.
  • Download or order our free book Living Well with Heart Disease.
  • Join Heart & Stroke’s Community of Survivors or Care Supporters’ Community support groups.
  • Sign up for the Heart & Stroke recovery newsletter. Get the latest research news and information, with tips and strategies to help you manage your recovery.
Related information

To find useful services to help you on your journey with heart disease, see our services and resources listing.

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