Marfan Syndrome

Marfan Syndrome

What is it

Marfan Syndrome is a rare, inherited, disorder that causes the connective tissue used to provide the framework and support for the body, to be weaker than it should be. Because the connective tissue is weaker, Marfan syndrome affects how the heart and blood vessels, eyes, and skeletal framework are formed and how they work.

Causes, Symptoms and Risk Factors

Marfan Syndrome is considered an inherited disease caused by a defect in a gene that enables the body to produce a protein that provides connective tissue elasticity and strength. 

There may be no signs or the symptoms of Marfan Syndrome or signs may develop slowly over time. If symptoms are present they may include:

  • Tall and slender build
  • Scoliosis (curvature of the spine)
  • Shortened muscles, tendons, and ligaments (contracture)
  • Disproportionately long arms, legs, fingers and toes
  • A breastbone that protrudes outwardly or caves in
  • Disproportionate growth
  • Eye or vision problems
  • Flat feet
  • Loose joints or double jointed
  • A high arched palate or crowded teeth

Marfan Syndrome tends to get worse with age. The damage can be mild or severe. The effects can even be life threatening. The syndrome affects the heart, lungs and eyes. Risks include developing the following conditions:

Our Services (Tests, Procedures and Treatments)

Diagnostic testing and procedures are the first step in establishing a treatment strategy. A doctor may order tests or perform the following procedures:

Treatment of Marfan Syndrome includes regularly or yearly doctor appointments as the cardiovascular complications associated with Marfan Syndrome can be life-threatening, so doctors typically recommend an annual heart exam. Additionally, treatment may include:

  • Medicine
  • Procedures if aortic or valve disease is present
  • Lifestyle changes which include avoiding strenuous exercise or playing contact sports
  • A back brace is scoliosis is present

Due to the effects on the eyes, an annual eye exam is also recommended. The following treatment or procedures may be used:

  • Glasses
  • Medicine and surgical procedures for glaucoma
  • Cataract surgery
  • Retinal detachment surgery
St. Luke's Heart & Vascular