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Marfan syndrome

Marfan syndrome is a heritable genetic disorder that affects connective tissues. Connective tissues are the “glue” that hold the cells, tissues and organs together. The effects of Marfan syndrome are different from person to person, and Marfan Syndrome can affect many different organs, such as the heart and blood vessels, eyes, lungs, skin and skeleton.

History

In 1896 Dr. Antoine Marfan, a French paediatrician, first described what was later to be named “Marfan Syndrome” in a little girl that had very long fingers and limbs.  Although Marfan syndrome was named after him because of his discovery, it was later found that the little girl suffered from another, related disease. It was only much later that the disease was more thoroughly described with the official diagnostic criteria defined in the 1986 Berlin nosology, and reviewed respectively in the 1996 Ghent nosology and again in 2010 (so-called Revised Ghent nosology).

Cause of the disease

Marfan syndrome is caused by mutations in the gene FBN-1 coding for the protein fibrillin-1. These mutations are like a “spelling mistake” and will affect the protein that will be secreted.

The first role of fibrillin-1 is to provide strength to the connective tissues by providing (together with other proteins) a strong scaffold. When a mutation occurs, the shape of the protein changes and the scaffold is weakened, leading to the majority of the problems seen in Marfan syndrome. A second role of fibrillin-1, is to store proteins and release them when necessary. In the mutated proteins, the storage capacity of proteins is not working as expected, and proteins (mainly TGF-beta) are released in higher quantities (concentrations) than required. Although FBN-1 is the main gene responsible for Marfan syndrome, some other genes have been associated with the condition.

The effects of Marfan Syndrome can be seen in the following organ systems, sometimes leading to life threatening problems:

Heart and blood vessels

The most life-threatening problem of Marfan syndrome is a widening of the aorta (the biggest blood vessel sending the blood from the heart to the body), this widening (= “dilatation”) can cause a rupture of a layer inside the blood vessel (=”dissection”). Cardiologists monitor the size of the aorta of Marfan patients very closely and plan the replacement/repair of the aorta when the diameter increases too much, in order to avoid aortic dissection which requires emergency surgery.

Another common cardiologic problem is mitral (or sometimes even aortic) valve prolapse, where the mitral valve does not close properly, increasing the strain on the cardiac muscle. If needed, the mitral valve can be changed or repaired by surgery.

Eyes

The main ocular symptoms are:

  • high myopia,
  • dislocated lenses
  • retinal detachment.

These optical problems can be corrected by glasses, contact lenses or surgery.

Skeleton

Marfan Syndrome can affect the body and the skeleton in many ways:

  • curvature of the spine (scoliosis or kyphosis)
  • inward or outward growth of the breastbone (pectus excavatum and pectus carinatum)
  • long slender limbs
  • flat feet
  • claw or hammer toes

Surgery or a back brace are possibilities for treatment.

Other symptoms

Other frequent symptoms of Marfan syndrome are:

  • Spontaneous pneumothorax where the lung collapses and needs to be inflated again manually at the hospital.
  • Stretch marks on the skin (also at “unusual” places such as shoulders, hips, …)
  • Dural Ectasia and Tarlov cysts, where the “sac” containing the spinal fluid around the spinal chord is enlarged, sometimes causing nerve problems and pain.