2. DEFINITION
Marfan syndrome (MFS) is a genetic disorderof
the connective tissue. The degree to which people
are affected varies.People with Marfan tend to be
tall and thin, with long arms, legs, fingers and
toes. They also typically have flexible
joints and scoliosis. The most serious complications
involve the heart and aorta, with an increased risk
of mitral valve prolapse and aortic aneurysm. Other
commonly affected areas include the lungs, eyes,
bones and the covering of the spinal cord.
3. CAUSES-
genetic disorder. A mutation, or change, in the
gene that controls how the body makes fibrillin.
Sometimes Marfan syndrome isn't inherited.
Marfan syndrome is caused by a defect in the
gene that enables your body to produce a protein
that helps give connective tissue its elasticity and
strength.
Most people with Marfan syndrome inherit the
abnormal gene from a parent who has the
disorder. Each child of an affected parent has a
50-50 chance of inheriting the defective gene. In
about 25 percent of the people who have Marfan
syndrome, the abnormal gene doesn't come from
either parent. In these cases, a new mutation
develops spontaneously.
4. SIGNS AND SYMPTOMS
Tall and slender build
Disproportionately long arms, legs and
fingers
A breastbone that protrudes outward or
dips inward
A high, arched palate and crowded teeth
Heart murmurs
Extreme nearsightedness
An abnormally curved spine
Flat feet
5. Marfan syndrome often affects the long
bones of
the body. This can lead to signs, or traits,
such as:
A tall, thin build.
Long arms, legs, fingers, and toes and
flexible joints.
A spine that curves to one side. This
condition is called scoliosis.
A chest that sinks in or sticks out. These
conditions are called pectus excavatum and
pectus
carinatum, respectively.
Teeth that are too crowded.
Flat feet.
6.
7.
8. COMPLICATION
1 - Heart and Blood Vessel
Complications.
can affect the aorta and cause stretch
and grow weak This condition is called
aortic dilation
or aortic aneurysm.
mitral valve prolapsed (MVP).
MVP can cause shortness of breath,
palpitations , chest pain, and murmur.
9. Eye Complications
- A common problem is a dislocated lens in one or
both of the eyes. In this condition, the lens shifts
up, down, or to the side. This can affect your
eyesight.
◦ Other eye complications include nearsightedness,
early glaucoma, early cataracts and detached retina
also can occur.
Nervous System Complications
◦ Fluid surrounds the brain and spinal cord. the dura can
stretch and grow weak also bones of the
spine may wear away. These condition called
dural ectasia.
Symptoms of this condition are lower back pain,
abdominal pain, headache, and numbness in the
legs.
10. Symptoms of this condition are lower
back pain,
abdominal pain, headache, and
numbness in the legs.
11. DIAGNOSIS
Medical and Family Histories
doctor will ask about medical history of patient and
family's medical history.
Physical Exam
check the curve of your spine and the shape of feet.
doctor also will listen to your heart and lungs with a
stethoscope.
Echocardiography 4- MRI and CT scan 5- Slit-Lamp
Exam
can find out whether you have a dislocated lens,
cataracts, or a detached retina.
6- Genetic Testing
12. TREATMENT
1- Heart Treatments include:
- Medical : Beta blockers that help heart beat slower ,relieve
strain and slow the rate of aortic dilation.
- Surgical: Doctor may recommend surgery to repair or
replace
part of aorta and mitral valve.
2- Eye Treatments
Glasses or contact lenses can help with some of these
problems. Sometimes surgery is needed.
3- Nervous System Treatments
Dural ectasia usually is treated with pain medications 4- Lung
Treatments
Chest tube use to treat pneumothorax ( remove the air in
chest cavity). Sometimes surgery is needed.
Management often includes the use of beta blockers such
as propranolol or if not tolerated calcium channel blockers
or ACE inhibitors.
