How Can You Tell if You Have Marfan Syndrome?   

How Can You Tell if You Have Marfan Syndrome?

Conceptual design with stethoscope and graphs to represent a clinical diagnosis of a disease.
Clinical Contributors to this story:
David Silber, D.O

Marfan syndrome is a genetic disorder affecting the connective tissues of the body, typically associated with a person having a very long and slender body type. A gene mutation of the FBN1 gene causes it. While most people with Marfan syndrome inherit the gene mutation, about 25 percent develop it because of a new, non-inherited mutation of the FBN1 gene.

Since Marfan syndrome affects the connective tissues, it can impact the body broadly. But most commonly, it affects the heart, eyes and skeleton, says David Silber, D.O., FACC, an advanced heart failure and transplant cardiologist at Hackensack University Medical Center.

Signs of Marfan Syndrome 

Because Marfan syndrome can impact so many different areas of the body, symptoms can vary greatly, even among family members who are commonly affected, Dr. Silber says.

But common signs include:

  • Tall and slender build
  • Loose joints (sometimes referred to as being double-jointed)
  • Arm span longer than a person’s height
  • Elongated fingers and toes
  • Spine curvature
  • Sunken or protruding chest, which can affect lung function

Complications of Marfan Syndrome 

Vision Problems: Vision problems are a concern for people with Marfan syndrome because weakened connective tissue in the eyes can cause partial or complete dislocation or rupture of the lens in one or both eyes, Dr. Silber says.

Heart Concerns: With lessened support of the connective tissues, the walls of the aorta—the body’s largest blood vessel—can weaken and stretch. This potentially causes:

  • Valve leakage or dilation (a widening of the vessel), which can lead to chronic issues, such as high blood pressure, shortness of breath, fatigue and irregular heartbeat
  • Aneurysm (a localized bulge in the aortic wall)
  • Life-threatening rupture of the aortic wall, called an aortic dissection

Pregnancy Complications: While women with Marfan syndrome can have healthy pregnancies, they are at high risk for premature delivery and other serious complications, Dr. Silber says. In addition, there is a 50 percent chance that the child of one parent with Marfan will inherit the mutated gene.

Other Complications: Having Marfan syndrome can predispose people to other health issues, Dr. Silber says, including emphysema and soft tissue and internal organ damage as the result of injuries sustained by physical activities such as playing sports.

How Marfan Syndrome Is Diagnosed and Treated

The effects of Marfan syndrome may be seen as early as infancy, but typically it’s not detected in the first years of life, Dr. Silber says.

If Marfan syndrome is known to run in the family, screening is done early, even in utero. Marfan is often discovered during other testing—for example, an eye test or heart test such as an echocardiogram. Genetic testing will confirm whether the gene mutation is present.

Treatments are dictated by which symptoms or complications are present, Dr. Silber says. For example:

  • Medications may be prescribed for pain, inflammation or for heart conditions.
  • Eye surgeries may be needed to correct issues in the eyes.
  • Cardiovascular surgeries may be needed to correct issues in the heart or lungs.
  • Orthopedic surgery or devices, such as braces to realign the curvature of the spine, may be needed to tackle skeletal issues.

Next Steps & Resources:

The material provided through HealthU is intended to be used as general information only and should not replace the advice of your physician. Always consult your physician for individual care.

 

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