Marfan syndrome affects
many parts of the body, including the heart, blood vessels, skeleton,
and eyes. 1 in 5,000 people in the United Kingdom have Marfan syndrome
and both men and women can be affected.
People with Marfan syndrome
produce abnormal ‘connective tissue’. Connective tissue helps hold the
body together, binding tendon to muscle and muscle to bone and is made
of microscopic fibres.
This tissue provides the
stretchy strength of tendons and ligaments around joints and in blood
vessel walls. In Marfan syndrome, a fibre called fibrillin is made
abnormally which makes weaker tissue.
Professor Sanjay
Sharma talks
about Marfan
syndrome
Marfan syndrome is inherited from parents in
75% of cases, usually due to a mutation in the fibrillin gene. In the
remaining 25% of cases it is caused by a new or ‘de novo’ mutation. The
condition is inherited and, as such, children of a person with Marfan
syndrome have a 50% chance of developing the condition.
The severity and pattern of disease are variable in
Marfan syndrome, even within families. Diagnosis requires a careful
physical examination. People with Marfan syndrome may be very tall and
suffer from spine problems. Their arms, legs and fingers may be long and
their arm span may even be longer than their height. The joints of the
hands and wrist may also be very flexible. The roof of the mouth can be
high and arched and the teeth may seem overcrowded. There may also be
problems with vision caused by problems with the lens of the eye.
One of the main concerns in Marfan syndrome is that
the main blood vessel in the body, the aorta, can become stretched,
enlarged and may tear (aortic dissection) or burst (aortic rupture).
This can be very dangerous. People with Marfan syndrome may also develop
leaking heart valves that can be heard by a doctor as a heart murmur.
Not everyone with Marfan syndrome has all of these problems and a
genetic test can provide a definite diagnosis in at least 90% of cases.
Diagnosis is made after a careful physical examination, particularly focusing on the three main systems involved:
Eyes
Heart
Skeleton (including the jaw).
Certain tests such as an Echocardiogram (an
ECG is insufficient); chest and skeletal X-rays; and a careful eye examination using a slit lamp, are useful in making the diagnosis.
The complications of Marfan syndrome can be
corrected. The importance of diagnosis is to allow careful observation
so that the life-threatening risks of aortic dissection or rupture can
be avoided. Enlargement of the aorta usually occurs very slowly, so an
ECHO once a year will identify patients with this problem. Tablets
called beta-blockers can slow the enlargement down. If dangerous
enlargement occurs then plans can be made for an operation to replace
that part of the aorta.
Enlargement of the aorta can also cause the aortic
valve to become leaky (aortic regurgitation). The function of the aortic
valve is to prevent blood from flowing back into the heart once it has
been pumped out. Leakage of blood back into the heart can cause
breathlessness. In these situations the aortic valve can be replaced at
the same time as the aorta is repaired. Leaking of the mitral valve can
also be caused by Marfan syndrome. Constant leaking of the mitral valve
causes the main pumping chamber to work harder and may again cause
breathlessness sometimes with palpitations. In this situation the mitral
valve can be repaired or replaced during an operation.
Eye, mouth and skeleton problems are not
life-threatening and each problem can be corrected if necessary.
There are only four rare
complications requiring emergency care:
Tear of the aorta -
this may cause severe chest and/or back pain and even a collapse.
Collapse of lung -
this may occur during periods of exertion and presents with severe
breathlessness. You may become blue and complain of chest pain.
Glaucoma - the lens
problem may produce a sudden increase of pressure in the eye and
cause acute eye pain.
Dislocations - loose
ligaments do not provide adequate support for joints, and can cause
a joint to become separated, known as dislocation.
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