Transcript Marfan`s Syndrome - faculty at Chemeketa

Marfan Syndrome and
Aortic Dissection
Briefly: What is it?
A single gene mutation causing defective production of
fibrillin in the extracellular matrices of body systems.
Uh Huh?
So what does that mean?
Skeletal?
Ophthalmology?
Pulmonary?
Cardiology?
Others?
What does it mean to you as a
Paramedic?
A child with
Marfan
Syndrome
Case Study!
A 38 y.o. man comes to the ED two hours after
eating in a restaurant with his wife. He c/o
severe abdominal pain, nausea, and just had a
loose BM. He had a couple of cocktails at
dinner. He has a hx of HTN but can’t remember
the name of his medication. On further
questioning he states that the pain started in
his chest but now has moved to his mid-abdomen.
His BP is 160/110, HR is 90, RR is 18. His
abdomen is tender on deep palpation.
Lets Start!
What causes it?
A single gene mutation of the FBN1 gene on
chromosome 15, which encodes a
glycoprotein called fibrillin-1.
Hereditary
~No one race or gender
seems to be affected more
~Estimates of 60,000-200,000 (1:1500-5000) people in the US
alone have Marfan Syndrome
~One of the most common hereditary disorders
~The most common single gene mutation disorder
~ Increasing age of father shown to increase likelihood of Marfan
Syndrome
The odds of getting it?
Dominant inheritance gene
Or
New mutation (1:4)
Fun Fact! The average person
has 8 genetic mutations!
Important!
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Don’t count on seeing all or even some
signs of Marfan Syndrome.
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There are many different levels of
affectedness.
With that said, here’s what to look for!
Skeletal Features (Picture time)
~Tall and thin (dolichostenomelia)
Longer limbs
Shorter thorax,
Arm span greater than height
Increased metabolism (thin)
Skeletal Features
~ Long fingers (arachnodactyly)
Thin “weak looking wrists”
Skeletal Features
~Scoliosis
Gives the characteristic
shorter upper body
Skeletal Features
~Pidgeon Chested (Pectus Excavatum)
or
Protrussion of the sternum (Pectus Carinatum)
Skeletal Features (other)
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Flat Feet
Joint hyper mobility
Malocclusions (misaligned teeth)
Stooped Shoulders
High Palate
Can’t straighten at elbows (deep set sockets)
Hernias (from underdeveloped musculature)
Unexplained stretch marks (sometimes your only clue)
Dural Ectasia
Look for speech disorders caused by misaligned teeth,
high palates, and small jaws.
Ophthalmology of Marfans
Lens Problems!
Diagnosed using a slit lamp biomicroscope at
optometrist
Eye Features
Dislocated lens or retinal detachment
Eye Features
Early onset cataracts
A person with cataracts
will have a blurred center
of vision.
Other Eye Features
Flat cornea
 Myopia
 Early Glaucoma
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Pulmonary
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Spontaneous pneumothorax!
As a paramedic, keep an eye out for
sudden chest, back, and arm pain,
shortness of breath, and cyanosis
Breath sounds?
Cardiology
Aortic enlargement
 Aortic aneurysm
 Aortic valve regurgitation
 Mitral valve prolapse
 Murmurs
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As paramedics, this is what you’ll need to
worry about!
(that’s why they wanted me to talk about this)
Aortic Enlargement and Aneurysm
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Aorta and major arteries have the highest concentration of
elastic connective “stretch” tissues in the body.
Diagnosed with many forms of X-Ray/Contrast Scans
AAA most common type of aortic aneurysm because amount
of protein fibers reduce the farther away from the heart the
aorta is.
S/S?
Pulses?
Tearing/ stabbing pain
Aneurysm to Rupture
Aortic Dissection/Rupture
Free flowing accumulation of blood in
abdomen
 85% survival
when
diagnosed and
treated.
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Misdiagnosis
Huge opportunity for misdiagnosis
Chest pain- MI, Pulmonary Embolism,
Pleurisy…
 Abdominal – Flu, food poisoning, Ulcers…
 Back- Kidney stones, back/spinal injury…
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50% of untreated dissections won’t last 48
hours. 1% survival rate drop per hour.
Aortic Repair
or Dacron
material
Risk of future aneurysm ~ 50%
Mitral valve Prolapse
http://www.youtube.com/watch?v=IBBC
u3x_TKo
 Complications of infection and sepsis
 Complicates aortic repair surgeries
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Why Marfans Syndrome?
250 times
more likely to
experience aortic
dissection!
Average life expectancy of person with Marfans is 35 – 45 years
Treatment?
Stabilize patient
ABC’s, give Oxygen
Get to a certified emergency department
that can handle a trauma surgery.
Blood pressure?
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Beta Blockers
Drugs?
Woman with Marfans syndrome can now become
pregnant thanks to beta blockers. Previously, pregnancy
put to much stress on the aorta.
Famous People?
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Abe Lincoln? Nope! “multiple endocrine neoplasia Type 2B”
Flo Hyman – Professional volleyball player, died during a match against
Japan of aortic dissection.
Arsenio Hall - Comedian
Johnny Appleseed (speculative)
Joey Ramone of “The Ramones”
died of lymphoma
Osama Bin Laden (speculative)
Johnathon Larson – Composer of Rent
Wrap-Up!
Suspect Aortic Dissection for chest,
back, or abdomen pain (of any sort)
 Recognize connective tissue disorders
in people
 Communicate your suspicion
 Get it DIAGNOSED!
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http://www.youtube.com/watch?
v=UnW1abqM3_s