Healthy Habits: Marfan Syndrome

I had never heard of Marfan syndrome before I was approached to do this post, but it's impacted some pretty high-profile people. U.S. Olympic player Flo Hyman (who played several decades ago) died as a result of undiagnosed Marfan syndrome, and now the National Marfan Foundation (NMF) is running an “Athlete Alert” that raises awareness of Marfan syndrome and related disorders that affect approximately 200,000 Americans. People with this condition are frequently tall, with disproportionately long arms and legs; often have indented or protruding chest bone; scoliosis; flat feet; hyper-flexible joints and other skeletal abnormalities. However, it’s the problems with the aorta that can be fatal—the weak connective tissue in this blood vessel can lead to a tear or rupture if not treated.

To find out more, I interviewed Dr. Alan Braverman.

1.    How can parents note the difference between having a tall kid and one with trademarks of Marfan syndrome?

There are many features one looks for when considering the possibility of Marfan syndrome. Being much taller than other family members is one trait, but lots of kids are tall and are perfectly healthy. One looks for (1) abnormalities in the skeleton, such as deformities of the chest wall (such as a protrusion--pectus carinatum, or an indentation--pectus excavatum), a curved spine (scoliosis), very long thin fingers and toes, being very flexible and loose jointed; and very flat feet; (2) abnormalities of the eyes, such as severe nearsightedness (myopia) and dislocated lenses (ectopia lentis); (3) cardiovascular abnormalities, including mitral valve prolapse and an enlarged aorta--the large blood vessel that carries blood away from the heart.

2.    How is a person evaluated for Marfan syndrome?

Evaluation for Marfan syndrome includes a careful physical examination by a doctor knowledgeable about the condition and a very detailed family history for anyone with a history of aortic dissection or thoracic aortic aneurysm or unexplained sudden death at a young age. An echocardiogram (a specific type or heart evaluation) to look for enlargement of the aorta and mitral valve prolapse is needed. A slit lamp eye exam (a special kind of eye exam) performed by an experienced eye specialist is necessary to evaluate for dislocation of the ocular lenses.

3.  How is Marfan syndrome treated?

Marfan syndrome is treated with medication including a beta blocker to lessen the stress or force against the aorta by the beating heart and blood. People who cannot take beta blockers or who have high blood pressure are treated with medication known as angiotensin receptor blockers. Research is ongoing in this area to see if this medication helps people with Marfan syndrome. People with Marfan syndrome must practice safe lifestyle modifications, including exercising at a low to moderate pace and avoiding intense competitive sports, heavy weight lifting and activities involving bodily collision. Routine doctor appointments to evaluate the heart and aorta, the eyes, and the skeleton are all part of ongoing care.

4.  What related disorders are there that the family needs to be aware of if one member is diagnosed with Marfan syndrome?

If one family member is diagnosed with Marfan syndrome, it is important to screen the first degree relatives to see if anyone else has the condition. Marfan syndrome is an autosomal dominant condition. That means that if a parent has the condition, there is a 50% chance the condition will be passed on to each child. So, if a child is diagnosed with the condition, each parent should be evaluated for the condition. If a parent is found to have the condition, then each child must be evaluated for Marfan syndrome.  n about 25% of instances, Marfan syndrome results from a spontaneous change or mutation in the gene causing Marfan syndrome (FBN1) and neither parent has the condition. 

There are disorders which share features similar to Marfan syndrome. These include Loeys-Dietz syndrome, familial thoracic aortic aneurysm syndrome, familial ectopia lentis syndrome, MASS phenotype, and others. These disorders can be evaluated by medical geneticists and specialists knowledgeable about each condition. They also are dominant conditions and first degree relatives must be evaluated for them.

5.  What can someone who has been diagnosed with Marfan syndrome expect in terms of life expectancy or any activity restrictions?

The outlook is very good for someone diagnosed with Marfan syndrome. With appropriate medical treatment and long term follow-up, including preventative aortic root replacement surgery when an aneurysm develops, the person with Marfan syndrome may achieve a nearly normal lifespan. It is important to have aortic surgery before an aortic dissection (tear) occurs, as the natural history and lifespan after an aortic dissection is much less than the normal population. Intense exercise, competitive sports involving bodily collision, and weightlifting or activities performed against a load are all associated with extra stress or pressure on the aorta. These activities are all to be avoided in Marfan syndrome to lessen stress on the aorta. Safe activities including walking, golf, bowling, archery, and light exercises during which one can easily talk in a normal conversational voice.