Marfan Syndrome Test, Symptoms, Genetic Causes, and Life Expectancy

What do Sergei Rachmaninov and Niccolo Paganini have in common? At first, you may think it is their musical genius—and you are right. However, I bet you had no idea that both had a condition called Marfan Syndrome (more on that below). Rachmaninov is considered a genius in the field of music. The composer and pianist had an extraordinary long reach on the piano thanks to his long and flexible fingers and this thanks to Marfan Syndrome. He was also very tall with a slender and long nose. Along similar lines, Paganini was also considered a musical genius for his talents with the violin. His ‘abnormal’ reach of three octaves on the violin earned him the title of most distinguished violinist of all times. His ‘talent,’ however, just as with Rachmaninov, was also attributed to Marfan Syndrome. As an aside, Paganini lived 100 years before Rachmaninov and his works were sources of inspiration for the pianist and composer.

So, what is Marfan Syndrome?

Well, as much as it may seem as such, it is not a condition of musicians. Apparently, Julius Caesar also had it and it is rumored that Michael Phelps may have it, too. Marfan Syndrome is a genetic disorder that essentially affects the thread that holds it all together in the human body: connective tissue. It is considered the cement that holds the body in place and every organ in the body possesses it. Even blood is considered connective tissue. Fundamentally, the task of connective tissue is to bind things together, as the name implies. It binds parts of an organ, blood vessel or joint together. Connective tissue is made up of many proteins. What bites the dust in Marfan Syndrome is Fibrillin, of the constituent fibers of connective tissue. In people with defective Fibrillin, that is manifested as being taller than the rest, having longer arms, legs and flat feet as well as joints that are more flexible than usual. Even though this may seem like an advantage at first, make no mistake. Those who suffer from it grow to have health problems in old age. As connective tissue is found everywhere in the body, these medical problems tend to affect joints, the heart and lungs,and eyes, to name a few. Some Marfan Syndrome features can be life-threatening. These include enlargement of the main blood vessel that carries blood from the heart to the rest of the body. Interestingly, however, Marfan Syndrome does not affect intelligence.

Genetic Causes

An estimated 1 in 5,000 people have Marfan Syndrome. This includes both men and women of all racial and ethnic backgrounds. An approximate 75% of affected individuals inherit the condition. This means they get it from a parent who has it. However, the syndrome can also affect an individual spontaneously, meaning it happens with no heritable family history. There is an overall 50% chance that an affected individual will pass on his or her genetic mutation to their offspring.

Marfan Syndrome is caused by a mutation in the gene that communicates to the body how to make Fibrillin. This mutation, in turn, somehow results in an increased production of a protein called transforming growth factor beta, or TGF-B. This increase causes problems with connective tissue, and this is manifested in symptoms of Marfan Syndrome.

Genetic Testing

Genetic Testing

Getting genetic tested is important. This is particularly important as features of the disorder are not always present right away, even if people with the syndrome are born with it. Some people have symptoms right away, and yet others develop these symptoms later on in life. This means that testing and obtaining accurate, early diagnosis and treatment can improve life expectancy and even save lives.

Furthermore, Marfan Syndrome symptoms vary from individual to individual, which is why physicians won’t always diagnose it right away without a proper family genetic background as well as a few other tests. If Marfan Syndrome is suspected, doctors will perform heart tests such as an echocardiogram, a CT scan or an MRI. Furthermore, doctors will want to look at the eyes by doing eye tests such as a slit-lamp exam (looking for lens dislocation, cataracts or a detached retina) or an eye pressure test (looking for glaucoma). Given that Marfan Syndrome is a genetic disorder, genetic testing may also be ordered in order to be completely sure about the diagnosis.

Treatment

Depending on the diagnosis, treatment includes anything that focuses on where connective tissue problems have manifested themselves. This includes surgeries such as aortic repair to compensate for aortic enlargement, scoliosis treatment in the form of back braces (for children until their growth is complete), breastbone corrections in the case of a sunken or protruding breastbone as well as eye surgeries to compensate for torn or loose retinas or cataracts.

Life Expectancy

Obtaining early and accurate test results, as well as proper treatment, may help reduce symptoms that would otherwise be life-threatening. This, of course, improves the life expectancy of those who are affected. Given all that, individuals with Marfan Syndrome do live to old age. Certain adjustments have to be made, of course, such as avoiding intense sports as connective tissue may not be able to provide the support that is needed. Furthermore, individuals can also suffer emotionally knowing that they may not be able to live fulfilling lives or that they may pass Marfan Syndrome to their children. This is why it is very important that those who are affected receive emotional support.

Marfan Syndrome, however, is interesting if we go back to Rachmaninov and Paganini. Isn’t a disorder supposed to slow someone down and make him more prone to fatigue and/or weakness? Both pursued their dreams despite their conditions. As such, they truly embody what we have heard so many times, “When there’s a will, there’s a way.”

Laura Day
 

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