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Marfan Syndrome

Marfan Syndrome is a disease of the body’s connective tissue. Because connective tissue is found throughout the body, Marfan Syndrome can affect many systems, including the lungs, skin, eyes, skeletal, nervous, heart and blood vessels. Most cases are inherited, however, nearly 30 percent of individuals diagnosed with this condition have no family history.

Signs and Symptoms

Persons with Marfan Syndrome are usually tall with long, thin arms and legs and spider-like fingers, a condition called arachnodactyly. 

Other symptoms include:

  • Highly arched palate and crowded teeth
  • Nearsightedness
  • Dislocation of the lens of the eye
  • Funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
  • Scoliosis
  • Flat feet
  • Learning disability
  • Thin, narrow face
  • Micrognathia (small lower jaw)
  • Coloboma of iris
  • Hypotonia valve

Diagnosing Marfan Syndrome 

A diagnosis requires a variety of tests by various medical specialists, such as orthopedists, ophthalmologists and cardiologists. A common test is an echocardiogram to check the size of the aorta and how the heart is functioning. 

Treatment Options  

Individuals diagnosed with Marfan Syndrome typically have weak aortas and also experience mitral valve disease.

Medications

Medicine to slow the heart rate may help prevent stress on the aorta. 

Surgery

In some cases, surgical replacement of the aorta and/or heart valve is needed.

For more information on the treatment of Marfan Syndrome or to schedule an appointment, call us at 314-996-3627 or contact us online.

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