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Marfan Syndrome and Aortic Dissection

Marfan Syndrome and

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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?. - PowerPoint PPT Presentation

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Page 1: Marfan  Syndrome and

Marfan Syndrome andAortic Dissection

Page 2: Marfan  Syndrome and

Briefly: What is it?

A single gene mutation causing defective production of fibrillin in the extracellular matrices of body systems.

Page 3: Marfan  Syndrome and

Uh Huh?

So what does that mean?

Page 4: Marfan  Syndrome and

Skeletal?Ophthalmology?Pulmonary?Cardiology?Others?

What does it mean to you as a Paramedic?

Page 5: Marfan  Syndrome and

A child with Marfan Syndrome

Page 6: Marfan  Syndrome and

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.

Page 7: Marfan  Syndrome and

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

Page 8: Marfan  Syndrome and

The odds of getting it?

Dominant inheritance gene

Or

New mutation (1:4)

Fun Fact! The average person has 8 genetic mutations!

Page 9: Marfan  Syndrome and

Important!

Don’t count on seeing all or even some signs of Marfan Syndrome.

There are many different levels of affectedness.

With that said, here’s what to look for!

Page 10: Marfan  Syndrome and

Skeletal Features (Picture time)~Tall and thin (dolichostenomelia)

Longer limbs Shorter thorax, Arm span greater than height Increased metabolism (thin)

Page 11: Marfan  Syndrome and

Skeletal Features ~ Long fingers (arachnodactyly) Thin “weak looking wrists”

Page 12: Marfan  Syndrome and

Skeletal Features~ScoliosisGives the characteristic shorter upper body

Page 13: Marfan  Syndrome and

Skeletal Features~Pidgeon Chested (Pectus Excavatum)orProtrussion of the sternum (Pectus Carinatum)

Page 14: Marfan  Syndrome and

Skeletal Features (other) 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.

Page 15: Marfan  Syndrome and

Ophthalmology of Marfans

Lens Problems!Diagnosed using a slit lamp biomicroscope at optometrist

Page 16: Marfan  Syndrome and

Eye FeaturesDislocated lens or retinal detachment

Page 17: Marfan  Syndrome and

Eye Features

Early onset cataracts

A person with cataracts will have a blurred center of vision.

Page 18: Marfan  Syndrome and

Other Eye Features Flat cornea Myopia Early Glaucoma

Page 19: Marfan  Syndrome and

Pulmonary Spontaneous pneumothorax!

As a paramedic, keep an eye out for sudden chest, back, and arm pain, shortness of breath, and cyanosis

Breath sounds?

Page 20: Marfan  Syndrome and

Cardiology Aortic enlargement Aortic aneurysm Aortic valve regurgitation Mitral valve prolapse Murmurs

As paramedics, this is what you’ll need to worry about!

(that’s why they wanted me to talk about this)

Page 21: Marfan  Syndrome and

Aortic Enlargement and Aneurysm

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?

Pulsating above umbilicus

Aortic bruits

Pain in abdomen, back or flank.

Hypertension (compensation)Pain/hypertension/mass

triadAcute, s

evere, c

onstant

pain.

Tearing/ stabbing pain

“Never felt this before”

Feeling of doom

Migrating

Page 22: Marfan  Syndrome and

Aneurysm to Rupture

Page 23: Marfan  Syndrome and

Aortic Dissection/Rupture

Free flowing accumulation of blood in abdomen

85% survivalwhen diagnosed andtreated.

Page 24: Marfan  Syndrome and

MisdiagnosisHuge opportunity for misdiagnosis

Chest pain- MI, Pulmonary Embolism, Pleurisy…

Abdominal – Flu, food poisoning, Ulcers… Back- Kidney stones, back/spinal injury…

50% of untreated dissections won’t last 48 hours. 1% survival rate drop per hour.

Page 25: Marfan  Syndrome and

Aortic Repair

Risk of future aneurysm ~ 50%

or Dacron material

Page 26: Marfan  Syndrome and

Mitral valve Prolapse http://

www.youtube.com/watch?v=IBBCu3x_TKo

Complications of infection and sepsis Complicates aortic repair surgeries

Page 27: Marfan  Syndrome and

Why Marfans Syndrome?

250 times more likely to

experience aortic dissection!

Average life expectancy of person with Marfans is 35 – 45 years

Page 28: Marfan  Syndrome and

Treatment?Stabilize patientABC’s, give OxygenGet to a certified emergency department

that can handle a trauma surgery.

Blood pressure?

Page 29: Marfan  Syndrome and

Drugs? Beta Blockers

Woman with Marfans syndrome can now become pregnant thanks to beta blockers. Previously, pregnancy

put to much stress on the aorta.

Page 30: Marfan  Syndrome and

Famous People? 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

Page 31: Marfan  Syndrome and

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!

Page 32: Marfan  Syndrome and

http://www.youtube.com/watch?v=UnW1abqM3_s