Marfan Syndrome(MFS)

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

mandible

EyesDislocation of lenses

Slightly higher or lower, or shifted to one side

More than half of those affected with marfan syndrome

NearsightednessExtremely common

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

SkinStretch 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 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

SkeletonAnnual evaluations

Particularly important during periods of rapid growth

Pain clinicsLoose joints

Orthopedic BracesBackAnkles

SurgeryPectus excavatum

EyesRegular

examinationsGlasses/Contact

lensesSurgery

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 EcstasiaIdentified through MRIMild cases left aloneExtreme pain

Treated with Medication or spinal shunting

LungsSurgery to correct pectus abnormalitiesNo smoking!!Pneumothorax

Chest tubeSupplemental oxygen

EmphysemaBronchodilater

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

years

OutlookMarfan syndrome is a life long conditionWith 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/Marfan-Syndrome--Aortic-Dissection-and-the-EMS-Provider/1$1705

Any questions?