Case study on fictional patient with Marfan Syndrome

1. Case Study Extra Credit
Marfan Syndrom
Nathan Backowski

2. Consider the following patient:
Mitch is an eleven year old boy in for his yearly
physical. He weighs 68 pounds which is slightly
below average, but at 64” tall he is much taller
than the rest of his classmates and has
abnormally long arms and legs. His spine has
always been curved and chest stuck out slightly,
but lately he has been complaining of not being
able to see the whiteboard at the front of his
classroom. Recent stretch marks on his shoulders
and thighs appeared for no apparent reason.

3. What is your initial diagnosis???

4. What tests would you do to confirm
your diagnosis?

5. Mitch has Marfan Syndrome.
Tests to confirm
• Echocardiogram
• Test looks at your heart, its valves, and the aorta.
• Electrocardiogram
• Checks your heart rate and heart rhythm.
• Eye examination
• A common side effect of Marfan Syndrome is the lense being
out of place.
• CT scan
• Combines a series of X-rays to create a cross sectional
image.
• MRI
• Uses strong magnetic fields to generate images of the inside
of the body.

6. About
Marfan syndrome is a genetic disorder that affects the
body’s connective tissue. Connective tissue holds all
the body’s cells, organs and tissue together, and is
made of proteins.
The glycoprotein fibrillin-1 is the main factor in Marfan
Syndrom. It is inherited as the dominant trait, and
carried by the gene FBN1 which codes for fibrillin-1. The
mutation leads to an increase in transforming growth
factor beta, which leads to problems with connective
tissues throughout the body.

7. The FBN1 gene is responsible for encoding fibrillin-1. The
protein is transported into the extracellular matrix, and
fibrillin-1 attach to themselves and other molecules to
create microfibrils. The microfibrils form elastic fibers which
are used by the skin, ligaments, and blood vessels to
stretch.
Researchers have identified more than 1,300 FBN1 gene
mutations that case Marfan syndrome. Mutations of the
FBN1 gene can lead to abnormal fibrillin-1 proteins that do
not function properly, such as changing a single amino
acid, reducing the amount of protein that is produced by
the cell, alter structure or stability, or impair transport of
fibrillin-1 out of the cell. These all lead to a reduction in
microfibrils, and decreased elasticity in tissues.

8. The Heart
Marfan Syndrome can be life threatening because of
its effects on the lungs, heart and blood vessels.
The aorta, which carries blood from the heart to the
rest of the body, can become enlarged of bulging and
possible separation of aorta layers can cause tears.
40% of Marfan patients will die immediately if aortic
dissection occurs.
The lungs of individuals with Marfan Syndrom can
suffer from sudden lung collapse, emphysema,
asthma, and even sleep apnea, which all affect
airflow to the lungs and make breathing difficult.

9. Treatment
One of the most crucial treatment options for a patient with
Marfan Syndrome is aorta surgery. The traditional method is
to remove the area of dissection or aneurysm, and a
mechanical valve, attached to the end of the aortic graft, is
sewn to the annulus of the aortic valve.
When surgery is performed before dissection actually
occurs, patients have greater than a 98% survival rate.
Even though Marfan syndrome cannot be cured, an
individual can still live a full and happy life through careful
treatment and management. There can be some

10. History
My hometown friend was diagnosed with Marfan
Syndrome in middle-school. Through careful
management of the disorder he has been able to
live a fairly normal life and has had limited
restrictions.
Last year, however, he underwent aorta surgery to
prevent a tear. Besides minor complications, the
surgery was successful and he is doing well.
* The individual in the case study is completely fictional and does not intentionally represent any real-life person.

11. Works Cited
• Samir, N., Al-Fannah, W., Theodorson, T., & Al-Mahrezi, A. (2012).
Marfan Syndrome: Correct diagnosis can save lives. Sultan Qaboos
University Medical Journal, 12(4), 526–530.
• Cleveland Clinic. Marfan Syndrome Heart Surgery.
http://my.clevelandclinic.org/health/articles/marfan-syndrome-
surgery/surgery. Accessed 16 Dec 2016.
• U.S. National Library of Medicine. FBN1 Gene.
https://ghr.nlm.nih.gov/gene/FBN1#conditions. Accessed 16 Feb 2016.
• The Marfan Foundation. Marfan & Related Disorders.
https://www.marfan.org/about. Accessed 16 Dec 2016.
• The Marfan Foundation. What are the Signs?
https://www.marfan.org/about/signs. Accessed 16 Dec 2016.
• The Marfan Foundation. Treatment.
https://www.marfan.org/expectations/treatment. Accessed 16 Dec
2016.