http://www.marfan.org/marfan/
What is Marfan?!?
It is a condition that affects the connective tissue in your body.the connective tissue holds the body together and provide framework for growth and development.Since connective tissue is found throughout the body, Marfan syndrome can affect many body systems like the cardiovascular system, nervous system, skeleton, eyes,lungs and skin.
How is Marfan caused?
Marfan is caused by a mutation in the gene that determines the structure of fibrillin-1.ocuurs on Chromosome 15.Marfan Syndrome is inherited as an “autosomal dominant” condition. This means that someone with Marfan Syndrome has a 50-50 chance that each offspring will inherit the condition, regardless of sex.
How is it Diagnosed?
Most of the time Marfan Syndrome is diagnosed after careful physical examination, particularly focusing Eyes, Skeleton, Heart and Lungs. Certain tests, such as an echocardiogram (a sound-wave picture of the heart) are useful in making the diagnosis.
it can also be diagnosed by Blood tests demonstrating the abnormal gene are becoming available for diagnosis through referral to a clinical geneticist.
and Prenatal diagnosis is now available for some families with this condition, especially those families with a mutation in the fibrillin
Symptoms
Skeleton
- tall
- slender
- loose -jointed
- arms,legs fingers and toes are disportionate to the body
- breast bone is protruding or indented
- Scoliosis
- flat feet
- long narrow face roof of the mouth is arched
- dislocation of one or both eye lenses
- nearsided
- retinal detachment
- early glaucoma/cataracts
- aortic dilation
- aortic can tear/repture resulting sudden death or serious heart problems
- heart murmur
- shortness of breath
- fatigue
Nerverous System
- Dural ectasia
Skin
- strech marks
- inguinal hernia
Lungs
- lung can collapse
Treatment
Skeletal-Annual evaluations are vital to detect any changes in the spine or sternum. In some cases, an orthopaedic brace or surgery might be recommended to limit damage and disfigurement.
Heart and blood vessels-Regular checkups and echocardiograms help the doctor evaluate the size of the aorta. Those with heart problems are advised to wear a medical alert bracelet and to go to the emergency room if they experience chest, back, or abdominal pain. Some heart-valve problems can be managed with drugs like beta-blockers.Beta blockers have been shown to slow the dilation of the aortic root and their use should be considered in all patients.
In other cases, surgery to replace a valve or repair the aorta may be necessary.
Eyes-Most of the time eyeglasses or contact lenses can correct the problem, although surgery may be necessary in some cases.
Neverous System- If dural ectasia (swelling of the covering of the spinal cord) develops, medication can minimize the pain.
Lungs-people with Marfan syndrome not smoke, becuase already at increased risk for lung damage.
Research
•Factors that cause heart and blood vessel problems
•The process that leads to skeletal problems
•The role of a chemical messenger called transforming growth factor-beta (TGF-ß)
•Genes linked with Marfan syndrome
•Defects in the fibrillin gene
•Families with Marfan syndrome
•How Marfan syndrome affects connective tissue
•Why people with Marfan syndrome have different symptoms
•New treatments, medicines, and surgeries .
History
Marfan syndrome (MFS) was first described by the French doctor Bernard J.A. Marfan in 1896.
http://www.youtube.com/watch?v=ab_B0lZqq6M
Bibilography
http://www.medicinenet.com/marfan_syndrome/article.htm
http://kidshealth.org/teen/diseases_conditions/genetic/marfan.html
http://emedicine.medscape.com/article/946315-overview
