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 (1: ) 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!  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!

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)  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

Pulmonary  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 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  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 triad Acute, severe, constant pain. Tearing/ stabbing pain “Never felt this before” Feeling of doom Migrating

Aneurysm to Rupture

Aortic Dissection/Rupture  Free flowing accumulation of blood in abdomen  85% survival when diagnosed and treated.

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.

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

Mitral valve Prolapse  u3x_TKo u3x_TKo  Complications of infection and sepsis  Complicates aortic repair surgeries

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?

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

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

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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