This document discusses Marfan Syndrome in a patient. It describes tests that revealed the patient has mitral valve prolapse, aortic dissection, and aortic dilation causing aortic regurgitation. Based on these results and the patient's family history, he was diagnosed with Marfan Syndrome according to clinical guidelines. The patient requires surgery to repair the aortic dissection and replace his aortic valve. After surgery, he will need to take beta blockers long-term to prevent blood clots.
2. Cardiovascular System
Aorta
The aorta, which is the largest artery in the
body, carries blood from the left
ventricle. The aorta is made of three
different layers of tissue: intima (a thin
inner layer), media (an elastic middle
layer), and adventitia (a tough outer
layer).
3.
4. Aortic Dissection
• Aortic dissection occurs when the inner
•
layer of the aorta (intima) develops a
tear. The blood can now rush into the
middle layer of the aorta, separating or
dissecting the two layers.
If the blood ruptures through the outer
layer (adventitia), an aortic dissection
can be fatal.
7. Valves
•
•
The aortic semilunar valve allows blood to flow
from the left ventricle into the aorta and is
composed of three flaps or cusps.
The mitral valve allows blood to flow from the
left atrium to the left ventricle and has two cusps.
8. Mitral Valve Prolapse
• Mitral valve
prolapse occurs
when the mitral
valve does not
close properly. The
cusps of the valve
bulge backwards
or prolapse into the
left atrium.
9. Patient History
• 32 year old male
patient
• Actuary
• 6 feet and 5
inches tall
• One hundred and
forty pounds
• Married without
children
10. Family History/Lifestyle
• Patient has a father with Marfan
•
•
Syndrome (de novo mutation) and a
mother who died of small cell lung
carcinoma.
Patient is not a smoker and drinks only
socially. There are no associated
occupational issues and patient is not a
recreational drug user.
Patient has no drug allergies and is
11. Past Medical History
• Patient had surgery to implant
Harrington rods at age sixteen.
o Harrington rods are implanted along
the spine to correct instability and
deformity. When the spine is unstable,
it no longer retains a normal shape
during movement.
o Patient first sought care due to pain
from spinal instability.
13. • After further examinations, skin striae and pectus
excavatum were both detected.
14. • It was also reported that the patient had
reduced elbow extension. Elbow
extension is ruled reduced when the
angle formed is less than 170 degrees.
15. Diagnosis
• The guidelines for Marfan Diagnosis are
outlined by the 2010 Revised Ghent
Nosology. It relies upon seven different
rules.
o Rules 5-7 are contingent upon the
presence of family history of the
condition, which is present with this
patient
o Rule 6 says that the systemic score
17. Reason for Visit
•
•
•
Patient previously had a systemic score of 6
o If mitral valve prolapse is detected, this would
increase the score to 7 and a diagnosis can be
made.
If the patient does have Marfan Syndrome,
precautionary measures must be taken in order to
diagnose or prevent other heart problems including
o aortic regurgitation and mitral valve prolapse,
aortic dilation, and aortic dissection
The patient was scheduled for a routine diagnosis,
but was admitted after experiencing extreme anterior
chest pain.
18. Marfan Syndrome
• Marfan Syndrome is caused by a
mutation of the FBN1 gene on
chromosome 15. This gene is responsible
for encoding the glycoprotein fibrillin-1.
Fibrillin-1 is responsible for the proper
formation of the extracellular matrix,
which is needed for the structural
integrity of connective tissue.
19. Tests
• There are several tests that can be
•
performed to check for heart conditions
related to Marfan Syndrome. One of the
most important conditions to check for is
Mitral valve prolapse since it will
confirm the diagnosis of Marfan
Syndrome by raising the systemic score
to 7.
Auscultation
20. Auscultation
• Auscultations can be
used to listen for
specific heart
sounds that are
related to specific
conditions like
mitral valve
prolapse and aortic
regurgitation.
21. Test results
• Heart auscultations revealed clear signs of both
mitral valve prolapse and aortic regurgitation.
Upon evidence of this, the echocardiograms were
performed.
22. Transthoracic echocardiogram
• Transthoracic echocardiogram is an easy
to perform and noninvasive imaging
technique that uses sound waves to
produce a moving image of the heart.
• There are 4 different standard positions
of the transducer and each can give
several different images
o parasternal (long and short axis),
apical, subcostal, and suprasternal
23. Parasternal Long Axis
• This is a 2-D echocardiogram in the
parasternal long axis that shows evidence
of a dilation of the aortic root.
24. Color Doppler
• This color doppler shows regurgitation
through a normal aortic valve that results
from dilation of the aortic root.
25. 2-D and M-Mode
• These are a 2-D and M-mode images of a
mitral valve prolapse.
26. Transesophageal
Echocardiogram
• Transesophageal echocardiogram can give much
clearer images than transthoracic since the
transducer is swallowed and is closer to the heart.
However, the procedure is much more evasive.
• It is commonly used to diagnose aortic dissection
27. Results
• As a result of these tests, I have
concluded that the patient has mitral
valve prolapse, aortic dissection, and
aortic dilation that is causing aortic
regurgitation.
o According to Ghent Nosology, I can
now diagnose the patient as having
Marfan Syndrome
28. Treatment- Mitral Valve
Prolapse
• Most patients with mitral valve prolapse do not
require treatment unless they have symptoms. If the
patient becomes symptomatic:
o Medication: beta blockers (these reduce blood
pressure and the heart beats with less force) and
aspirin (reduces risk of blood clots)
o Surgery: Surgery is not very common except with
severe prolapse
Valve repair: Valve repair preserves the patient
tissue
Valve replacement: The valve is replaced by a
29. Aortic Dissection
• Aortic dissection requires surgery. The
•
surgeons must remove much of the
dissected aorta, prevent blood from
entering the aortic wall, and reconstruct
the aorta with a synthetic tube.
If there are aortic valve problems, the
valve will be replaced at the same time.
The valve is placed within the tube.
30. Aortic Dilation
•
•
Aortic dilation requires surgical
management. It should be
performed when the aorta is 4.55 cm, the rate of growth is 0.5
cm or more, and there is the
presence of aortic regurgitation.
An artificial valve, to replace the
aortic valve, is mounted on a
fabric tube prior to surgery. This
graft is used to replace a portion
of the aorta.
31. Treatment
• The patient does not need surgery for the mitral
valve prolapse at present, but must have surgery
for the aortic dissection.
o A tube graft will replace any dissected tissue
and a new mechanical valve will replace the
aortic valve. This will also solve the problem
of aortic dilation.
o After surgery, the patient will have to take
beta blockers indefinitely to prevent clots
from forming on the valve. This will also help
treat the mitral valve prolapse