Text of Description Heritable condition that affects connective tissue. Connective tissue affects: Heart...
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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
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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.
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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.
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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
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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
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How is the body affected?
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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
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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
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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
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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.
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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
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Skin Stretch marks Appear at sites subject to stress: lower
back, buttocks, shoulders, breasts, thighs, abdomen Increased risk
for abdominal or inguinal hernia
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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
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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
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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
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Treatment There is no cure for Marfan syndrome Treatment is
symptomatic
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Skeleton Annual evaluations Particularly important during
periods of rapid growth Pain clinics Loose joints Orthopedic Braces
Back Ankles Surgery Pectus excavatum
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Eyes Regular examinations Glasses/Contact lenses Surgery
Removal or replacement of lenses Retina reattachment Cataract
surgery
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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
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Dural Ecstasia Identified through MRI Mild cases left alone
Extreme pain Treated with Medication or spinal shunting
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Lungs Surgery to correct pectus abnormalities No smoking!!
Pneumothorax Chest tube Supplemental oxygen Emphysema
Bronchodilater
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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
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Outlook Marfan syndrome is a life long condition With early
identification, life expectancy is similar to that of the average
person 70-80 years.
