This can cause problems with the heart and blood vessels, eyes, bones, and other systems.
Ultimately, this can lead to life-threatening complications, likeaortic dissection.
Among the most important are heart and cardiovascular problems, issues with the skeletal system, and eye problems.
Verywell / Theresa Chiechi
Both are life-threatening emergencies.
This can also lead to life-threatening dissection or rupture.
These might be because of an aortic dissection or rupture.
Sometimes the heart valves are affected in Marfan syndrome.
For example, some people have aprolapsed mitral valveor an aortic valve that doesnt work correctly.
These valve issues may also increase the risk of endocarditis (infection of the valves).
Additionally, people with Marfan syndrome have an increased risk of dangerous heart rhythms.
In some people, these can lead tosudden cardiac death.
People with Marfan syndrome also have a much higher risk of certain other eye problems.
These may occur at an earlier age than they typically would in people without Marfan syndrome.
These might include:
Skeletal Issues
Skeletal issues are also common with Marfan syndrome.
Some of these problems can lead to chronic pain and fatigue.
Some potential issues are:
Most people with Marfan syndrome are very tall with a slim build.
They usually have long extremities and long fingers and toes.
Some people have a severe version of the disease which is obvious at birth or early in infancy.
In others, more subtle signs and symptoms might not appear until later in childhood or even adulthood.
Some people with Marfan syndrome also experience depression or other psychological challenges from dealing with their condition.
Causes
Marfan syndrome is a genetic disease because of a problem with a gene called FBN1.
Thats a problem because fibrillin-1 is important for the bodys structure.
It is a kind of scaffolding substance that helps give tissues their form and support.
For example, fibrillin-1 is an important part of the connective tissue found in certain blood vessels.
Not surprisingly, problems with fibrillin-1 often lead to symptoms in these parts of the body.
As it is a rare disease, clinicians may not immediately consider it as a possibility.
Medical history provides the initial starting point.
The clinician learns about the persons current symptoms and their past medical problems.
Family history gives important clues because the disease runs in families.
If its already known that someone in the family has Marfan syndrome, that greatly increases the likelihood.
A medical exam also gives the clinician important information.
Clinicians can also use other physical indicators.
For example, the healthcare provider might ask the person to fold their thumb inside their fist.
If the thumb extends beyond the palm of the hand, Marfan syndrome is a strong possibility.
Along with the medical history, these physical signs and symptoms are often enough to diagnose Marfan syndrome.
Sometimes medical imaging tests can be helpful too.
For example, an echocardiogram might reveal dilation of the aorta, an important diagnostic clue.
Genetic testing may also be of benefit.
However, genetic information can be complicated.
Such people might be told that they have incomplete Marfan syndrome or a Marfan-related disorder.
Instead, treatment focuses on managing symptoms and preventing complications.
The details of your treatment plan will depend on your specific issues and challenges.
Its often helpful to be treated in a specialty medical center where they have experience managing Marfan syndrome.
Preventing and Treating Aortic Dissection
A key part of treatment is preventing aortic dissection or rupture.
Medications can help lower the blood pressure and make this less likely.
Beta blocker drugslike Lopressor (metoprolol) are commonly prescribed.
This can be done with an echocardiogram or CT scan every one or two years.
For example, a surgery called theBentall procedurecan help repair the early aorta and the valve.
Depending on the context, you might also need repair of another valve, like the mitral valve.
This can help identify possible retinal detachment and other issues before they become severe and more difficult to treat.
However, this should be low to moderate intensity, to avoid certain complications.
Its also important that people with Marfan syndrome protect their heart and blood vessels in other ways.
Pregnancy
People with Marfan syndrome can still get pregnant and have healthy pregnancies.
However, there is an increased risk of complications for both the pregnant person and the fetus.
If you have Marfan syndrome and are thinking about becoming pregnant, talk to your healthcare provider.
If you get pregnant, youll need to work with specialists experienced in this area.
Many people also find it helpful to speak with a genetic counselor.
Inheritance
Marfan syndrome is inherited as anautosomal dominantgenetic disease.
However, the manifestations of the disease can be very different, even in the same family.
Some people also get Marfan syndrome even when nobody else in their family has ever had it.
This might help prevent a life-threatening complication from undiagnosed Marfan syndrome.
Its also very helpful for family planning purposes.
Since then, life expectancy has increased by 30 more years.
Because of better monitoring and better surgical techniques, fewer people die young from problems related to the aorta.
With proper care, most people with Marfan syndrome can live a normal lifespan.
However, weve come a long way in helping people with Marfan syndrome lead regular lives.
A team of professionals will help manage your care so you might focus on leading the life you want.
2019;14(1):71-77. doi:10.4103/jovr.jovr_29_18
National Eye Institute.Retinal detachment.
Child AH.Non-cardiac manifestations of Marfan syndrome.Ann Cardiothorac Surg.
2016;11(2):102-110. doi:10.15420/ecr/2016:19:2
Goland S, Elkayam U.Pregnancy and Marfan syndrome.Ann Cardiothorac Surg.
2017;6(6):642-653. doi:10.21037/acs.2017.10.07
NIH.
National Heart, Lung, and Blood Institute.Marfan syndrome.
