Marfan Syndrome Facts
Who discovered Marfan syndrome?
syndrome (MFS) was first described by the French doctor Bernard J.A. Marfan in 1896.
What are the Salient Features?
thin physique, disproportionately long limbs, fingers and toes, lax ankles, flat feet, spinal curvature, abnormally shaped
narrow chest (with pigeon or funnel deformity), armspan usually greater than height, joint hypermobility or contractures and
dislocations, striae (stretch marks). Dilatation of the lumbar dural sac occurs in about 75% of patients. Hernias are common.
Dilatation of ascending and sometimes descending aorta, incompetence of aortic and mitral valves, aneurysm and dissection of aorta.
Pneumothorax (collapse of the
lungs), bronchiectasis, emphysema and asthma.
or dislocation of lens, myopia (short sight) and unstable refraction, detachment of retina, strabismus (squint), glaucoma.
palate, crowding of teeth.
Even within one family the severity and pattern of disease varies.
What causes Marfan
A single abnormal (mutant) gene on Chromosome 15 causes the condition. This abnormal gene controls production of fibrillin,
a very fine fibre in connective tissue throughout the body (the “glue and scaffolding of the body”). Most of the
time this gene is inherited from a parent who is also affected. However, about 25% of the cases occur when the abnormal gene
appears in an egg or a sperm (a spontaneous “new” mutation) producing an affected child from two unaffected
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. On average one in ten affected
children are seriously affected.
How is Marfan syndrome diagnosed?
Marfan Syndrome may be difficult to diagnose because signs of the
condition vary greatly from one person to the next. Most affected people will not have all the signs and complications of
Diagnosis can be confirmed within a family by genetic linkage studies.
Mutations can be found in the fibrillin-1 gene in 80% of patients, assisting with screening of family members.
The identification of the chromosome, gene in 1990 and the component
of connective tissue (fibrillin) in 1991, in which the mutations for the Marfan Syndrome are located, offers great promise
as a diagnostic aid. It is hoped that as a better understanding of fibrillin is gained, earlier and more accurate diagnosis
of the Marfan Syndrome will be possible.
Blood tests demonstrating the abnormal gene are becoming available
for diagnosis through referral to a clinical geneticist.
Prenatal diagnosis is now available for some families with
this condition, especially those families where a mutation (change) in the fibrillin gene has been demonstrated.
In general, Marfan Syndrome is diagnosed after careful physical
examination, particularly focusing on the main systems involved – Eyes, Skeleton, Heart and Lungs. Certain tests, such
as an echocardiogram (a sound-wave picture of the heart) are useful in making the diagnosis.
Medical Problems and Treatment
People with Marfan syndrome should be treated by a Physician familiar with the condition, conversant with its effects
on all body systems and able to advise on screening of the family. Genetic counselling should be given. There is no
cure for this condition yet, but careful medical and surgical management, together with an appropriate lifestyle, can greatly
improve prognosis and lengthen life span. A list of Genetic Centres is available from the Marfan Office.
most serious life-threatening problems associated with Marfan Syndrome involve the cardiovascular system. The two leaflets
of the mitral valve may billow backwards when the heart contracts, a condition called “mitral valve prolapse”.
This feature may lead to heart failure or be associated with irregularities of the heart rhythm.
aorta (the main artery carrying blood away from the heart) is generally wider and more fragile in people with the Marfan Syndrome.
This widening is progressive and may result in leakage of the aortic valve or in the development of tears (dissection) in
the wall of the aorta. When the aorta becomes widened, medications (e.g. beta blockers, to lower blood pressure) may be prescribed,
thereby reducing strain on the aorta and regulating heart rhythm. This may be followed by surgical repair preferably when
the aortic root widens to 5 cms diameter, and before it becomes torn.
with Marfan Syndrome are recognised to have a slightly increased morbidity and mortality risk associated with general anaesthesia.
Preoperative assessment should include a thorough medical examination with a chest x-ray, electrocardiogram and echocardiogram.
Any treatment must be carried out in conjunction with the patient’s cardiologist.
may be prescribed prior to dental, genito-urinary or other minor surgical procedures, to reduce the risk of infection (endocarditis)
in people who experience mitral valve prolapse.
adaptations, such as the avoidance of strenuous exercise and contact sports, are often necessary to reduce the risk of injury
to eyes, skeleton, as well as the aorta.
blockers have been shown to slow the dilation of the aortic root and their use should be considered in all patients.
Echocardiograms are important to monitor size and function of the heart and aorta.
problems are common and troublesome in Marfan Syndrome. Indeed, recognition by a rheumatologist could be the first vital step
towards diagnosis of the underlying condition.
Involvement of the skeleton includes curvature of the spine (scoliosis/kyphosis/lordosis), abnormally shaped chest
(“pectus” deformity), tall stature, and loose jointedness (often causing joint pain and dislocation).
Physiotherapy, pain clinics and bracing may be helpful. In certain instances, surgery is indicated. Careful monitoring
is needed, especially during childhood and adolescence. Shoe inserts may help your child. Weak ankles may require lace-up
shoes with ankle support.
People with Marfan Syndrome
are generally near-sighted (myopic). In addition, some have dislocation of the ocular lens and retinal detachment. Glasses
and/or contact lenses may be prescribed to correct visual defects. Surgery is now available, if required, for removal and
replacement of lens(es) and retachment of retinas.
Spontaneous pneumothorax (collapse
of the lungs) is thought to occur in approximately 10% of patients and requires hospital treatment.
Living with Marfan
As a member of the Marfan Association
UK you will be made aware of current medical and surgical treatments, genetic implications and latest research results, enabling
you to become an advocate for your own health management.
Understanding enables you to “come
to terms” with the disorder and to concentrate on your life as a person who happens to have Marfan Syndrome rather than
as “a Marfan patient”. Marfan Syndrome is a variable disorder, affecting everyone differently. The objective should
be to achieve a clear understanding of your needs, in partnership with your doctor.
can be prevented if patients are seen on a regular basis by their various specialists. Those affected should work closely
with physicians for individual care and management. Often your Consultant requires the test results such as X-rays, ECG (Electrocardiogram)
Echocardiogram, MRI (Magnetic Resonance Imagining) CT Scan, lung function tests prior to your appointment. Check that
this is in hand! The Association would be happy to send updated Marfan information direct to your GP and Specialists. This
is often useful prior to your appointment!
The Marfan Association will be pleased
to hear from people with Marfan Syndrome, and their families. Within the organisation we have a National Marfan Support Network
offering local support. In addition we have “Circles” e.g. ‘Heart to Heart’, ‘Eye to Eye’,
‘Bone to Bone’ and others. Through these patient groupings, many people have been helped by talking to someone
else in similar circumstances and often they themselves have then felt able to help others.
general it is important for the patient with Marfan Syndrome to keep as fit as possible. This improves muscle tone and is
good for overall function of the heart and blood vessels, but any exercise should be appropriate to each individual’s
physical condition. Some activities are best avoided, such as long distance running and heavy lifting.
The person with Marfan Syndrome should
in general be able to take part in appropriate non-competitive sporting activities but should be allowed to stop whenever
tired. Contact sports such as basketball and rugby are probably best avoided. Enjoy yourself within your own safe individual
Fatigue, due to Marfan Syndrome, can
be a problem, especially when long periods of concentration are required. Learn to “pace yourself”, working within
your own comfortable time scales!
A balanced healthy diet, rich in vitamins
and minerals, encourages the production of connective tissue. It makes good sense to choose your foods wisely!
destroys elastin, which is the very protein which is already deficient in anyone who has Marfan Syndrome. It also causes complications
in surgery and the recovery period. It is therefore best avoided. Passive smoking again creates a problem, so – if a
smoke free zone exists – it makes sense to use it!
children is a very personal decision that should be made solely by prospective parents, but only after acknowledging and understanding
the potential risks, especially if the female partner is affected. Pre-pregnancy and genetic counselling should, therefore,
be undertaken before starting a family. Remember that, although there is a 50% chance that a child may inherit the Marfan
gene, there is a 50% chance that they may not!