Description
 Heritable condition that
affects connective tissue.
 Connective tissue affects:
 Heart
 Lungs
 Blood vessels
 Nervous system
 Skin
 Skeleton
 Eyes
 Not related to sex, race, ethnic
groups.
 1 in 5,000 people in the US have this
disorder
History is fun
 Antoine Marfan (1858-1942) It
was in the course of his clinical
studies in 1896 that Marfan
described the main features of a
syndrome that later was given his
name. Marfan's patient was a five
year old girl, who was thin, and
had long limbs and abnormally
long fingers and toes.
It starts with the Fibrillin Gene
 Marfan syndrome develops before you are born.
 Mutation on FBN1
 Located on chromosome 15
 Encodes the protein fibrillin
 Fibrillin protein
 Glycoprotein essential for the formation of elastic fibers
found in connective tissue.
 Connect with other Fibrillin proteins to make
microfibrils, which become connective tissue.
Defective Fibrillin-1 Protein
 Reduction of the amount of fibrillin-1 protein
produced by cells
 Structure and stability of protein affected
 Transport of fibrillin-1 protein impaired
Decreased production and quality of connective tissue
Genetics
 Autosomal Dominant
 Variable expression
Caused by over 500 different
mutations on FBN1
 50% chance of inheritance
 Unaffected couples have a 1 in
10,000 chance of having a child
with Marfan syndrome
 25% caused by spontaneous
mutation of gene
How is the body affected?
Skeleton
 Affects the long bones: arms, fingers, legs, toes
disproportionately long.
 Tall, slender and loose jointed
 Long, narrow face
 Protruding or indented sternum
 Pigeon Chest (pectus caranatum)
 Funnel Chest (pectus excavatum)
 May impair cardiac and respiratory function
 Curvature of the spine
 Scoliosis - side to side curvature
 Lordosis - inner curvature of lower back
 Kyphosis – outward curvature on the spine of
upper back
 Arched palate, crowded teeth, receding
mandible
Eyes
 Dislocation of lenses
 Slightly higher or lower,
or shifted to one side
 More than half of those
affected with marfan
syndrome
 Nearsightedness
 Extremely common
 Retinal Detachment
 Holes or tears in the
inner lining of the eye
 Early development of
Glaucoma or cataracts
Heart and blood vessels
 Abnormally large mitral
valve leaflets
 Causes prolapse causing
mitral regurgitation
 Present in 75% of cases
 Mitral valve regurgitation
 Backflow of blood into
left atrium
 Heart murmurs
 Breathlessness,
exhaustion, irregular
pulse
Heart and blood vessels cont.
 Stretched aortic valve leaflets
 Aortic regurgitation
 Leak from aorta into left ventricle
 Left ventricle must compensate,
left ventricular hypertrophy
 Chest pain, heart failure
 Aortic dissection
 Faulty connective tissue weakens
and stretches the wall of the aorta.
 Tears in inner and middle aortic
layers
 Life threatening – sudden onset of
chest pain, pain in back, or
abdomen
 Sweaty, vomiting, faint, weak pulse.
Nervous System
 Weakening and stretching of
dura membrane
 Connective tissue around
vertebrae
 Wear away bone surrounding
spinal cord
 Radiating pain in the abdomen,
pain/numbness or weakness of
the legs, loss of bowel function.
 Dural ectasia
 Increased chance of learning
disabilities such as ADHD
Skin
 Stretch marks
 Appear at sites subject to stress: lower back, buttocks,
shoulders, breasts, thighs, abdomen
 Increased risk for abdominal or inguinal hernia
Lungs
 Restrictive lung disease, primarily




due to pectus abnormalities or
scoliosis, occurs in 70 percent of
people with MFS.
Diminished alveoli elasticity
Susceptible to asthma,
bronchitis, pneumonia
Swollen aviolies may lead to
spontaneous pneumothorax
Sleep apnea
 Looseness of the connective
tissues in the airways
Assessment
 No specific laboratory tests
 Observation/Medical history
 Family history
 Eye examination by an
ophthalmologist, who uses a slit
lamp to look for lens dislocation
after fully dilating the pupil.
 Arm/Leg to trunk size ratio
 Echocardiogram
Assessment cont.
 If patient has a family history
must have at least 2 of the body
systems known to be affected
to be diagnosed
 If patient has no family history
must have three body systems
affected
 2 systems must show clear
signs specific for Marfan
syndrome
Treatment
 There is no cure for Marfan syndrome
 Treatment is symptomatic
Skeleton
 Annual evaluations
 Particularly important during
periods of rapid growth
 Pain clinics
 Loose joints
 Orthopedic Braces
 Back
 Ankles
 Surgery
 Pectus excavatum
Eyes
 Regular examinations
 Glasses/Contact
lenses
 Surgery
 Removal or
replacement of
lenses
 Retina reattachment
 Cataract surgery
Heart
 Regular echocardiograms
 Medical bracelets
 Go to the hospital on first sign of chest
pain
 Reduce stress on aorta
 Enlargement of the aorta

Aortic dissection
 Aortic dilation
 Aortic valve regurgitation
 Mitral valve regurgitation
 Drugs to lower blood pressure and
decrease the forcefulness of the heartbeat
are often recommended.
 Beta blockers
 Calcium-channel blockers
 Physical activity kept minimal
Dural Ecstasia
 Identified through MRI
 Mild cases left alone
 Extreme pain
 Treated with Medication or spinal shunting
Lungs
 Surgery to correct pectus abnormalities
 No smoking!!
 Pneumothorax
 Chest tube
 Supplemental oxygen
 Emphysema
 Bronchodilater
Mortality and Morbidity
 Cardiovascular disease
 Aortic dissection
 Chronic aortic regurgitation
 Infant mortality
 Mitral regurgitation combined with tricuspid prolapse
and regurgitation
 If untreated the average age of death is 30-40 years
Outlook
 Marfan syndrome is a life long condition
 With early identification, life expectancy is similar to
that of the average person 70-80 years.
Sources
 http://www.mayoclinic.com/health/marfan-syndrome/
 http://www.americanheart.org/presenter.jhtml?identifier=4672
 http://www.marfan.org/
 http://www.medicinenet.com/marfan_syndrome/
 http://en.wikipedia.org/wiki/Marfan_syndrome
 http://emedicine.medscape.com/article/946315-overview
 http://www.emsresponder.com/print/Emergency--Medical-Services/MarfanSyndrome--Aortic-Dissection-and-the-EMS-Provider/1$1705
Any questions?