How serious is Marfan syndrome?
People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.
What causes marfans?
Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue. One in four people with Marfan syndrome develops the condition for unknown reasons. A person with Marfan syndrome has a 1 in 2 chance of passing it on to their child.
How can you tell if you have Marfan syndrome?
If your doctor suspects Marfan syndrome, one of the first tests he or she may recommend is an echocardiogram. This test uses sound waves to capture real-time images of your heart in motion. It checks the condition of your heart valves and the size of your aorta.
Is Marfan syndrome painful?
Skeletal problems that develop as a result of Marfan syndrome can sometimes cause significant pain and discomfort. They may also affect your appearance, which some people find affects their confidence and self-esteem.
Do you have to be tall to have Marfan syndrome?
Not everyone who’s tall or thin or nearsighted has the disease. People who have Marfan syndrome have very specific symptoms that usually occur together, and it’s this pattern that doctors look for when diagnosing it.
Can you play sports with Marfan?
The general guidelines for people with Marfan syndrome are to avoid competitive and contact sports that would put added stress on the aorta, cause chest or eye trauma, or be potentially damaging to loose ligaments and joints.
Are you born with Marfan syndrome?
People with Marfan syndrome are born with it, but features of the condition are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement.
Can Marfan syndrome cause erectile dysfunction?
Findings: Two patients with Marfan syndrome presented with urinary symptoms secondary to dural ectasia and sacral cysts. Patient 1 had a history of low back pain, erectile dysfunction, and occasional urinary incontinence and groin pain with recent symptom worsening.
What age is Marfan syndrome usually diagnosed?
Their ages when the Marfan syndrome was first diagnosed ranged from 32 to 72 years (mean age, 46 years). Of these 28 patients, 7 were older than 50 years of age at the time of initial diagnosis.
Is Marfan syndrome a disability?
If you are suffering from a severe case of Marfan syndrome and it has made you unable to work, you may be eligible to Social Security disability benefits. While people from all around the world, of all races and genders, can suffer from Marfan syndrome, the symptoms of the condition have a tendency to worsen with age.
Who died of Marfan syndrome?
Such was the case with six-foot, five-inch U.S. Olympic volleyball star Flo Hyman, who died in January 1986 at the age of 31 from a ruptured aorta—the result of Marfan’s syndrome—during a match in Japan.