Marfan Syndrome

What is Marfan Syndrome?

Marfan Syndrome is an inherited condition that results in problems with the connective tissues that bind the parts of the body together. Children usually inherit it from either parent, but up to 25% of cases arise from spontaneous genetic mutations not linked to a hereditary cause.

Marfan syndrome can become life-threatening depending on how much your connective tissue is affected. A lack of internal support leads to heart, lung, organ, and skeletal damage over the years.

What are the Symptoms of Marfan Syndrome?

Although patients are born with this condition, it’s usually detected in childhood or adolescence. People with the condition tend to develop distinct features.

Features include

  • Unexplained stretch marks
  • A skeletal system longer and taller than usual
  • A thin frame
  • Unusual spinal curvatures on either axis
  • Flat feet
  • Overcrowded teeth, narrow jaws, and a misshapen bite pattern
  • Joints that are uncomfortably flexible or prone to popping
  • A sunken or bowed chest

How is Marfan Syndrome Treated?

Aside from the effects on the skeletal system, Marfan syndrome reduces the structure of the heart valves and major blood vessels. This can lead to ruptures or collapses that threaten the life of the patient. Blindness can also occur from a lack of regeneration of key proteins.

Surgery is necessary to repair damage to the heart and circulatory system. Medication to manage high blood pressure and reduce the speed of the heart can prevent ruptures and collapses in patients with particularly weak hearts. Many people only need orthopedic support to prevent joint damage and counseling on exercising safely and prevent secondary organ damage.

Last Reviewed:
October 07, 2016
Last Updated:
August 30, 2017