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What is Marfan syndrome ?

Marfan syndrome is a connective tissue disorder
Connective tissue provides substance and support to
tendons, ligament, blood vessel walls, cartilage, heart valves
and many other structures
In the Marfan syndrome, the chemical makeup of the
connective tissue isnt normal. As a result, many of these
structures arent as stiff as they should be
Most researchers say that Marfan syndrome is inherited
(autosomal dominant disorder that been linked to the
mutation of FBN1 gene on chromosome 15) and affects
many parts of the body


But, recent studies show that most people with the
Marfan syndrome (72%) have not been found to
have fibrillin mutations and many people who dont
have the disorder also have fibrillin mutation
Theres no single conclusive test for diagnosing it,
but people who have it often have many similar

Besides perhaps having heart problems, people with
the Marfan syndrome are often tall and thin
They also may have slender, tapering fingers, long
arms and legs, curvature of the spine and eye
Sometimes the marfan syndrome is so mild that few
(if any) symtoms exist
In the most severe cases, which are rare, lifethreatening problems may occur at any age


The blood vessel problems

In the Marfan syndrome, the walls of the major
arteries are weakened
The aorta, the major artery that leaves the heart,
often is affected. When this occurs, it gets bigger
(dilates), which can weaken the inner aortic wall.
Under strenuous exertion, the aorta wall can tear.
Blood can leak through these tears into the aortic
wall, separating its layers-a process called aortic
dissection (dih-SEKshun).
Another problem that may occur if the aortic wall
weakens is that an aneurysm may form

The cardiac valve problems

Marfan syndrome can involve the four heart valves.
The two most important ones are the mitral and
aortic valves.
Blood may leak backward through a valve, increasing
the hearts workload. As a result, over time the heart
may enlarge.
Mitral valve prolapse(MVP) is a commonn but usually
less significant valve problem
People without the Marfan syndrome can have mitral
valve prolapse, but those with Marfan syndrome
often have an oversized mitral valve.
As it closes, the valve billows (prolapses) back into
the left atrium. This causes abnormal heart sound.


Clinical Diagnosis of Marfan Syndrome

Family history

Family History
Approximately 60% of individuals with Marfan
syndrome have a family history of the
Marfan Syndrome is inherited in an autosomal
dominant fashion.
If a parent has Marfan syndrome there is a
50% risk they will pass the abnormal fibrillin
gene to their offspring.


Skeletal Features of Marfan Syndrome

The lower body
segment is greater
then the upper body
The wing span is
greater then the height
Arachnodactyly (long
fingers and toes)
loose ligaments
high arched palate

Skeletal Features of Marfan Syndrome

Chest wall deformities
including pectus
excavatum and pectus
carinatum (pigeon chest)
flat arch (pes planus)
Increased flexibility
Steinberg thumb sign


Cardiovascular Features of Marfan

Dilatation of ascending
Aortic dissection
Mitral valve prolapse

Ophthalmologic Features of Marfan


Ectopia Lentis
Flat cornea
Elongated globe


Other Feature seen in Marfan Syndrome

Spontaneous pneumothorax
Striae distensae
Inguinal hernia
Dural ectasia (lumbosacral meningocele) *

Genetic Counseling for Marfan Syndrome

Patients with Marfan Syndrome have a 50%

risk of passing it onto their children.
The complications of this disorder vary among
family members.



Patients with Marfan syndrome usually have

normal intellectual.
Patients with homocystinuria are usually

Clinical Features of Homocystinuria

Mental deficit in 60% of
Downward subluxation of
the lens
Skeletal features include tall
slender build,
arachnodactyly, pectus
excavatum, kyphoscoliosis,
Cardiovascular features
include medial
degeneration of the aorta.


The Marfan syndrome treatment

Regular visits with a cardiologist are needed.
Chest X-rays and Doppler echo tests are usually
Different people may need different types of
treatment. Some people may not need treatment,
but others may need drugs that lower heart rate,
blood pressure or both
When the aorta or aortic valve develop major
problems, surgery is advised.


People with the Marfan syndrome who have

an abnormal heart or whove had heart
surgery for their Marfan syndrome risk
developing an infection of the heart wall or
heart valve (endocarditis) This happens when
bacteria enter the bloodstream. To prevent
this, antibiotics are given before certain
dental or surgical procedures


Lifestyle Changes
1. Physical activities
Because the Marfan syndrome appears in many forms,
recommendation about exercise vary widely. For example,
people with dilation of the aorta may be asked to avoid the
usual team sport.
Isometric exercises ( such as weight lifting or rowing) and
contact sport in which a blow to the chest could occur (such
as football or hockey) also may be off-limits.
Many people with Marfan syndrome can participate in
modified physical and recreational activities. Cardiologist
can give advice about this

2. Pregnancy
During pregnancy stress to the aortas wall greatly
increases the risk of dissection or rupture
That is why pregnancy is not advised for woman with
the marfan syndrome who have dilated aorta.
There is also a good chance that people with disease
may pass it on to their children