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Marfan Syndrome and

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?.

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Marfan Syndrome and

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  1. Marfan Syndrome and Aortic Dissection

  2. Briefly: What is it?A single gene mutation causing defective production of fibrillin in the extracellular matrices of body systems.

  3. Uh Huh?So what does that mean?

  4. Skeletal?Ophthalmology?Pulmonary?Cardiology?Others?What does it mean to you as a Paramedic?

  5. A child with Marfan Syndrome

  6. 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.

  7. 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

  8. The odds of getting it?Dominant inheritance gene Or New mutation (1:4)Fun Fact! The average person has 8 genetic mutations!

  9. 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!

  10. Skeletal Features (Picture time)~Tall and thin (dolichostenomelia)Longer limbs Shorter thorax, Arm span greater than height Increased metabolism (thin)

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

  12. Skeletal Features~ScoliosisGives the characteristic shorter upper body

  13. Skeletal Features~PidgeonChested (PectusExcavatum)orProtrussion of the sternum (PectusCarinatum)

  14. 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 (sometimesyour only clue) • Dural Ectasia Look for speech disorders caused by misaligned teeth, high palates, and small jaws.

  15. Ophthalmology of MarfansLens Problems!Diagnosed using a slit lamp biomicroscope at optometrist

  16. Eye FeaturesDislocated lens or retinal detachment

  17. Eye FeaturesEarly onset cataracts A person with cataracts will have a blurred center of vision.

  18. Other Eye Features • Flat cornea • Myopia • Early Glaucoma

  19. Pulmonary • Spontaneous pneumothorax! As a paramedic, keep an eye out for sudden chest, back, and arm pain, shortness of breath, and cyanosis Breath sounds?

  20. Cardiology • Aortic enlargement • Aortic aneurysm • Aortic valve regurgitation • Mitral valve prolapse • Murmurs As paramedics, this is what you’llneed to worry about! (that’s why they wanted me to talk about this)

  21. 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? Migrating Tearing/ stabbing pain Pulsating above umbilicus Hypertension (compensation) Acute, severe, constant pain. Feeling of doom Pain/hypertension/mass triad Pain in abdomen, back or flank. Aortic bruits “Never felt this before”

  22. Aneurysm to Rupture

  23. Aortic Dissection/Rupture • Free flowing accumulation of blood in abdomen • 85% survivalwhen diagnosed andtreated.

  24. Misdiagnosis Huge 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.

  25. Aortic Repair or Dacron material Risk of future aneurysm ~ 50%

  26. Mitral valve Prolapse • http://www.youtube.com/watch?v=IBBCu3x_TKo • Complications of infection and sepsis • Complicates aortic repair surgeries

  27. Why Marfans Syndrome? 250 times more likely to experience aortic dissection! Average life expectancy of person with Marfans is 35 – 45 years

  28. Treatment? Stabilize patient ABC’s, giveOxygen Get to a certified emergency department that can handle a trauma surgery. Blood pressure?

  29. Drugs? • Beta Blockers Woman with Marfans syndrome can now become pregnant thanks to beta blockers. Previously, pregnancy put to much stress on the aorta.

  30. 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

  31. 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!

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

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