description heritable condition that affects connective tissue. connective tissue affects: heart...
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DescriptionHeritable 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 funAntoine 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 GeneMarfan syndrome develops before you are
born.Mutation on FBN1
Located on chromosome 15Encodes the protein fibrillin
Fibrillin proteinGlycoprotein 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 ProteinReduction of the amount of fibrillin-1 protein
produced by cellsStructure and stability of protein affectedTransport of fibrillin-1 protein impaired
Decreased production and quality of connective tissue
GeneticsAutosomal DominantVariable expression
Caused by over 500 different mutations on FBN1
50% chance of inheritanceUnaffected 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?
SkeletonAffects the long bones: arms, fingers, legs,
toes disproportionately long.Tall, slender and loose jointedLong, narrow faceProtruding 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 backArched palate, crowded teeth, receding
EyesDislocation of lenses
Slightly higher or lower, or shifted to one side
More than half of those affected with marfan syndrome
Retinal DetachmentHoles or tears in the
inner lining of the eyeEarly development of
Glaucoma or cataracts
Heart and blood vesselsAbnormally large mitral
valve leafletsCauses prolapse causing
mitral regurgitationPresent in 75% of cases
Mitral valve regurgitationBackflow of blood into
left atriumHeart murmursBreathlessness,
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 SystemWeakening and stretching of
dura membraneConnective tissue around
vertebraeWear away bone surrounding
spinal cordRadiating pain in the
abdomen, pain/numbness or weakness of the legs, loss of bowel function.
Dural ectasiaIncreased chance of learning
disabilities such as ADHD
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 elasticitySusceptible to asthma,
bronchitis, pneumoniaSwollen aviolies may lead to
spontaneous pneumothoraxSleep apnea
Looseness of the connective tissues in the airways
AssessmentNo specific laboratory testsObservation/Medical historyFamily historyEye examination by an
ophthalmologist, who uses a slit lamp to look for lens dislocation after fully dilating the pupil.
Arm/Leg to trunk size ratioEchocardiogram
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 affected2 systems must show clear
signs specific for Marfan syndrome
TreatmentThere is no cure for Marfan syndromeTreatment is symptomatic
Particularly important during periods of rapid growth
Pain clinicsLoose joints
Removal or replacement of lenses
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 EcstasiaIdentified through MRIMild cases left aloneExtreme pain
Treated with Medication or spinal shunting
LungsSurgery to correct pectus abnormalitiesNo smoking!!Pneumothorax
Chest tubeSupplemental oxygen
Mortality and MorbidityCardiovascular disease
Aortic dissectionChronic aortic regurgitation
Infant mortalityMitral regurgitation combined with tricuspid
prolapse and regurgitationIf untreated the average age of death is 30-40
OutlookMarfan syndrome is a life long conditionWith early identification, life expectancy is
similar to that of the average person 70-80 years.