Cardiovascular System Enlarged Aorta (blood flow away from the heart) Aorta tearing (separation of layers) “Floppy” mitral valve Skeletal System Long arms and legs; long, thin fingers Tall and thin Spine curves Chest sinks or sticks out Flat feet Flexible Joints Crowded teeth
Ocular System Severe nearasited-ness Dislocated lens Detached retina Early glaucoma Early cataracts Other random stretch marks sudden lung collapse Swelling of the sac around the spinal column
The diagnosis of Marfan syndrome is based upon family history, physical examination and the presence of certain diagnostic criteria.
There should be frequent bone and eye exams. Heart valves should be frequently measured by echocardiograms, and surgery should be regulated before the aorta gets too large. Drugs can be given to reduce aorta swelling and reduce any pain if the spinal cord is swelling. For lung problems breathing should be regulated and they should not smoke. Because the body and blood vessels are so fragile certain sports need to be consulted with a doctor before going through with them. And dentists will should know about the disease before doing certain procedures.
Because there are so many different symptoms related with Marfan syndrome, everyday life will be different for every person with the disease. But with correct treatment and family support people with Marfan syndrome can lead a fairly normal life.
New research shows that the life expectancy for someone with Marfarn syndrome should be similar to that of an average person. The Mayo Clinic in Minnesota offers an integrated genetic, medical and surgical team of physicians in the Marfan Clinic to provide diagnosis and treatment for patients with the disease. Genetic and reproductive counseling is also offered at Mayo Clinic as part of each patient's treatment.
Marfan syndrome is caused by a mutation in the dominant FBN1 gene that is coded to make fibrillin-1. Fibrillin-1 is a protein that plays a big role in connective tissue. Without it, a protein called transforming growth factor beta (TGFB) increases.
Mm MMMMm m mm 3 out of 4 of parents with Marfans pass this disease on to their children
1 per 5,000 people are affected by Marfan syndrome worldwide There’s a 50% chance of parents passing it to their offspring Some people go most of their lives not knowing they have the disease President Lincoln had Marfan Syndrome
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