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
• 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.
Aortic dilations are a bulge in the wall of the
aorta and can be caused by a dissection of the
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.
Mitral Valve Prolapse
• Mitral valve
when the mitral
valve does not
close properly. The
cusps of the valve
or prolapse into the
• 32 year old male
• 6 feet and 5
• One hundred and
• Married without
• Patient has a father with Marfan
Syndrome (de novo mutation) and a
mother who died of small cell lung
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
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
o Patient first sought care due to pain
from spinal instability.
During X-rays taken to diagnose and confirm
skeletal instability, bilateral protrusio acetabuli
• After further examinations, skin striae and pectus
excavatum were both detected.
• 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.
• The guidelines for Marfan Diagnosis are
outlined by the 2010 Revised Ghent
Nosology. It relies upon seven different
o Rules 5-7 are contingent upon the
presence of family history of the
condition, which is present with this
o Rule 6 says that the systemic score
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
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
• 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.
• 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
• Auscultations can be
used to listen for
sounds that are
related to specific
prolapse and aortic
• Heart auscultations revealed clear signs of both
mitral valve prolapse and aortic regurgitation.
Upon evidence of this, the echocardiograms were
• 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
Parasternal Long Axis
• This is a 2-D echocardiogram in the
parasternal long axis that shows evidence
of a dilation of the aortic root.
• This color doppler shows regurgitation
through a normal aortic valve that results
from dilation of the aortic root.
2-D and M-Mode
• These are a 2-D and M-mode images of a
mitral valve prolapse.
• 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
• 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
o According to Ghent Nosology, I can
now diagnose the patient as having
Treatment- Mitral Valve
• 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
Valve repair: Valve repair preserves the patient
Valve replacement: The valve is replaced by a
• 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.
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.
• 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