 |
Marfan Support and Information in NSW |
|
About MarfanS Health Issues Personal Resources & News Marfan Queensland
online enquirydiscussion forum
community
photo gallery
resources
about marfan syndrome
- Mutated connective tissue diagram on the website of Davidson College and a link from there is NCBI
Medical problems associated with Marfan syndrome
in -
- Heart and blood vessels
- Skeleton
- Eyes
- Lungs
Cardio-vascular system:
- The most serious problems associated with Marfan syndrome involve the cardio-vascular system.
The aorta, the main artery carrying blood away from the heart, is generally wider and more fragile in patients with Marfan syndrome. This widening is progressive and can cause tears (dissection)in the aorta wall.
When the aorta becomes greatly widened, or tears, surgical repair is necessary. Leakage of blood back through the aortic valve can also be a problem and surgical repair may need to be done.
- In addition, the two leaflets of the mitral valve may billow backwards when the heart contracts (mitral valve prolapse). This can lead to leakage of blood back through the mitral valve, or, irregular heart rhythm.
Also see the NMF website for more info. about Heart and Blood Vessels.
Skeleton
- Effects on the skeleton include curvature of the spine (scoliosis),
- pigeon or funnel chest (pectus deformity),
- tall stature (not always) and loose jointedness.
- arm span usually greater than height and legs and fingers are also long.
- patients may have flat feet.
- dural ectasia can sometimes present a problem.
Eyes
- The major eye problem is dislocation of the ocular lens
- people with MFS are generally near-sighted or myopic
- they may suffer from retinal detachment.
Lungs
- Spontaneous collapse of the lung (pneumothorax) with breathlessness and chest pain
occurs in about one affected child in twenty. This problem requires prompt attention,
but is not life-threatening.
*Characteristics of the disorder vary greatly among affected individuals, even among siblings of the same family.
How is Marfan syndrome diagnosed ?
The possibility of a diagnosis of the Marfan Syndrome can only be assessed after a complete physical examination that focusses on the systems affected by the disorder.
This includes:
- Detailed medical family history.
- Complete physical examination.
- Echo-cardiogram at the cardiologist or hospital, or MRI or CT scan. An electro-cardiogram is not adequate screening
- Slit-lamp eye examination by an ophthalmologist/eye-specialist.
- Skeletal examination.
MRI machine
People with MFS should be treated by a physician familiar with the condition and with the effects it has on all body systems and who also can advise on screening of the family.
Treatment (after initial consultation)
- Yearly repeats of echo-cardiograms, possibly more frequently, to monitor the size and function of heart
and aorta. If the aorta is not dilated, the cardiologist may recommend less frequent
monitoring.
- Periodic follow up with the eye specialist.
- Monitoring of the skeletal system especially during childhood and adolescence, by
means of chest and back x-rays.
- Beta-blocker or similar medication, may be prescribed to lower blood pressure and regulate
heart rhythm reducing the strain on the aorta and slowing the widening of the aorta.
Once it becomes around 5 cm wide, elective aorta surgery may be considered.
- Antibiotics are recommended prior to dental and general surgery, to reduce the risk
of infection, for those people with mitral valve prolapse.
- Try and stay fit, to improve muscle tone, including that of the cardio-vascular
system.
- Avoid strenuous exercises and activities, avoid contact sports or
generally exhausting sports, to prevent injury to the main blood vessel.
For more detailed information on the Marfan disorder click on -
- National Marfan Foundation
where this link comes from too, about - What does MarfanS look like ?
Also
a pdf.file from:
- Marfan UK Fact sheet
- Marfan Research Foundation Ireland
For more info. (links to, that is) see other pages in section About MarfanS or go to section Health Issues or Resources & News and Marfan Info
&
for hospital appointments -
see the page Genetic Services, or when living in Sydney (top half) and for children go straight to -
- Clinical Genetics, Westmead. Both at CHW & Westmead Hospital, so Children & Adults. For the lower half of Sydney you could go to Sydney Children Hospital, link on page Genetic Services.
&
- Cardiac Check-ups
&
- Eye Check-ups
and . . . . for Kids a couple of links to suitable Marfan info.
- Tyler Kahle - his story and video about aorta dissection
- TAD (Thoracic Aortic Disease).
Marfan syndrome is a heritable (in 75%) disorder of connective tissue that affects many organ systems including -
The condition affects both men and women, of any race and ethnic group.
Connective tissue forms the glue between cells in the body's tissues, holding the cells together and giving those tissues structure and shape.
It is made of a number of different molecules, including a range of fibres which give strength and elasticity to many tissues.
This tissue provides the stretchy strength of tendons and ligaments around joints and allows the muscular blood vessel walls to expand and contract with every heart beat. It is also important in eye and lung.
In Marfan syndrome a protein called fibrillin is deficient or abnormal. Fibrillin is part of the elastic fibres, accounting for the unusual stretchiness and weakness of tissues.
The fibres which hold the lens of the eye in place are made of fibrillin, so abnormal or deficient fibrillin explains the dislocation of the lens seen in Marfan syndrome.
A mutation/error in the fibrillin gene on chromosome 15 is said to be responsible for the diminished fibrillin production or production of abnormal fibrillin molecules which cannot function properly.
Normal connective tissue
