Marfan syndrome is a genetic disorder that affects connective tissue in the body. It is caused by a mutation in the gene that controls production of fibrillin, a protein important for connective tissue. Symptoms vary but often involve unusually long limbs, fingers and toes as well as health issues like vision problems, heart problems, and collapsed lungs. Treatment focuses on managing heart, eye and lung issues through medication, surgery and lifestyle changes like exercise and not smoking. Regular screening is important to monitor health and catch any problems early.

2. Introduction
Marfan syndrome
(also called Marfan's syndrome)
is a genetic disorder
of connective tissue.
Named after Antoine Marfan,
the French pediatrician
who first described
the condition in 1896

3. What Is Marfan Syndrome?
Marfan syndrome is a condition in which your
body's connective tissue is abnormal. Marfan
syndrome most often affects the connective
tissue of the heart and blood vessels, eyes, bones,
lungs, and covering of the spinal cord. It is a
genetic disorder. A mutation, or change, in the
gene that controls how the body makes fibrillin
causes Marfan syndrome. Fibrillin is a protein that
plays a major role in your body's connective
tissue.

4. Most people who have Marfan syndrome inherit
it from their parents. About 1 out of every
5,000 people in the United States has Marfan
syndrome. Men, women, children, and
people of all races can have the condition.

5. What Causes Marfan Syndrome?
- genetic disorder. A mutation, or change, in the
gene that controls how the body makes fibrillin.
- Sometimes Marfan syndrome isn't inherited.

6. Signs and Symptoms
Marfan syndrome often affects the long bones of
the body.This can lead to signs, or traits, such as:
1- A tall, thin build.
2- Long arms, legs, fingers, and toes and flexible joints.
3- A spine that curves to one side.This condition is
called scoliosis.
4- A chest that sinks in or sticks out.These
conditions are called pectus excavatum and pectus
carinatum, respectively.
5-Teeth that are too crowded.
6- Flat feet.

8. Complications of Marfan
Syndrome
1 - Heart and BloodVesselComplications.
- 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. 2- 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.
3- 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.

10. Symptoms of this condition are lower back pain,
abdominal pain, headache, and numbness in the
legs.
4- Lung Complications
- can cause sudden pneumothorax or collapsed lung
are sudden pain in one side of the lung and
shortness of breath.
- emphysema can occur and also sleep apnea.

11. Marfan Syndrome Diagnosed
1-Medical and Family Histories
doctor will ask about medical history of patient and
family's medical history.
2- 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.
3- 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- GeneticTesting

12. Treatments
1- HeartTreatments 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- EyeTreatments
Glasses or contact lenses can help with some of these problems.
Sometimes surgery is needed.
3- Nervous SystemTreatments
Dural ectasia usually is treated with pain medications
4- LungTreatments
Chest tube use to treat pneumothorax ( remove the air in chest
cavity). Sometimes surgery is needed.

13. Nursing Diagnosis
1- Impaired gas exchange and airway clearance due
to chronic inhalation of toxins.
2- Ineffective airway clearance related to
bronchoconstriction, increased mucus production,
ineffective cough, bronchopulmonary infection, and
other complications
3- Self-care deficits related to fatigue secondary to
increased work of breathing and insufficient
ventilation and oxygenation
4- Activity intolerance due to fatigue, hypoxemia, and
ineffective breathing patterns

14. Nursing management
1- Advice the patients with marfan syndrome to
make regular checkup include the following:
a- Regular visits with your cardiologist to check for
problems with your heart valves and aorta.
b- Annual checkups with an orthopedist (bone
specialist) to look for changes in your spine and
other bone.
c- Regular eye exams with an ophthalmologist (eye
specialist) to find and treat eye problems early.

15. 2- Psychological support for patient to relieve fear,
anxiety, depression, and stress and encourage
family and friends to give him this support.
3- Stop smoking if the patient smoker to reduce the
risk of lung and heart disease.
4- Physical activity can help you feel better,
manage your weight, and protect your bones.
Talk with your doctor about what types of
physical activity are safe for you.