MARFAN SYNDROME FACTSHEET
Salient features
Ocular
Subluxation or dislocation of the lens, myopia and unstable refraction,
detachment of the retina, strabismus, glaucoma.
Dental
High-arched palate, crowding of the teeth.
Cardiovascular
Dilatation of the ascending and sometimes the descending aorta, incompetence
of the aortic and mitral valves, aneurysm and dissection of the aorta.
Skeletal
Tall thin physique, disproportionately long limbs, fingers and toes, lax
ankles, flat feet, spinal curvature, abnormally shaped chest (with pigeon or
funnel deformity), arm span usually greater than height, joint hypermobility or
contractures, stretch marks (striae).
A Syndrome is a collection of physical features which, when they occur
together, enable a physician to recognise a certain condition.
Marfan Syndrome is a variable disorder of the connective tissue which
affects many organ systems including the skeleton, lungs, eyes, heart and blood
vessels - the severity differing from patient to patient.
This Condition, first described by Dr. Marfan in 1896 can affect both men
and women of any race or ethnic group.
Marfan Syndrome is linked to the gene for fibrillin on chromosome 15q. Since
this exciting discovery in 1991 (Kainulainen paper), much encouraging research
is being conducted around the world.
What causes Marfan Syndrome?
A single abnormal (mutant) gene on Chromosome 15 causes the condition. This
abnormal gene controls production of fibrillin, a very fine fibre found 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 cases occur when the abnormal gene appears in an
egg or a sperm (a spontaneous "new" mutation) producing an affected
child of two unaffected parents.
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 Marfan Syndrome.
The recent identification of the chromosome, gene and component of
connective tissue (fibrillin) in which the mutation for the Marfan Syndrome is
located offers great promise for the diagnosis of the condition. 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 and skin 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 a careful physical
examination particularly focusing on the three main systems involved - Eyes,
Skeleton and Heart. Certain tests, such as an echocardiogram (a sound-wave
picture of the heart), are useful in making the diagnosis.
MARFAN SYNDROME PATIENTS SHOULD HAVE AN INITIAL DIAGNOSTIC ECHOCARDIOGRAM
WHICH IS REPEATED AT REGULAR INTERVALS.
An Electrocardiogram (ECG) is not adequate screening. Skeletal X-rays
(mainly chest and back) may be necessary and a careful eye examination, using a
slit lamp to detect lens dislocation, is recommended. Family history needs to
be taken into account.
Medical problems and treatment
People with Marfan Syndrome should be treated by a physician familiar with
the condition, conversant with the 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.
Heart
The most serious 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.
The 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 (for example beta blockers to lower blood pressure) may be
prescribed, thereby reducing the strain on the aorta and regulating heart
rhythm. This may be followed by surgical repair when the aortic root widens
beyond 5 cms. in diameter, or when it becomes torn.
Lifestyle adaptations, such as the avoidance of strenuous exercise and
contact sports, are often necessary to reduce the risk of injury to eyes and
skeleton as well as the aorta.
Beta blockers have been shown to slow the dilation of the aortic root and
their use should be considered in all patients. Regular Echocardiograms are
important to monitor size and function of the heart and aorta.
Skeleton
Involvement of the skeleton includes curvature of the spine
(scoliosis/kyphosis), abnormally shaped chest ("pectus" deformity),
tall stature and loose jointedness (often causing joint pain and dislocation).
Physiotherapy 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. Weakness in the ankles often
improves in time.
Eyes
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 of lens(es) and reattachment
of retinas.
Lungs
Spontaneous pneumorthorax (collapse of the lungs) is thought to occur in
approximately 10% of patients and requires hospital treatment.
Living with Marfan Syndrome
Be well informed
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 each patient differently.
The objective should be to achieve a clear understanding of your needs, in
partnership with your doctor.
Regular assessment
Complications 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.
Emotional support
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" covering 'Heart to
Heart', 'Eye to Eye' and 'Bone to Bone'. Many people have been helped by
talking to someone else in similar circumstances and often they themselves have
then felt able to help others.
Fitness
In 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.
Activity
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 are probably best avoided.
Easy fatiguability
Fatigue, due to Marfan Syndrome, can be a problem, especially when long
periods of concentration are required.
Diet
A balanced healthy diet is good general advice.
Smoking
Smoking destroys elastin, which is the very protein which is already
deficient in anyone who has Marfan Syndrome. It is therefore best avoided.
Starting a family
Having children is a very personal decision that should be made solely by
prospective parents, but only after acknowledging and understanding the
potential risks. Pre-pregnancy and genetic counselling should, therefore, be
undertaken before starting a family.
|
