Transcript Marfan Syndrome - Sacred Heart Academy

MARFAN SYNDROME
By: Alaina
Zsampar
WHAT IS THIS DISEASE?
 Disorder that affects the body’s connective tissues
 1896
 By French Doctor Antoine Marfan
 Observed a five year old girl
 1991
 Cause
 The severity of symptoms depends on the type of
mutation
 Seen in famous figures
 About 1 in 5 to 10,000
CAUSE
 Mutation in Chromosome 15 on FBN1 gene
 Point mutation
 Changes amino acid in Fibrilin-1 protein
 Causes abnormalities and impairs it’s function
 The FBN1 gene
 produces protein fibrilin-1
INHERITANCE
 Autosomal Dominant
 25%new mutations
 Other 75% inherited at birth
 Commonly inherited connective tissue disorders
SYMPTOMS
 Long arms, legs and fingers
 Tall and thin body type
 Curved spine
 Chest sinks in or sticks out
 Flexible joints
 Flat feet
 Crowded teeth
 Stretch marks on the skin
 dural ectasia
NON-VISIBLE SYMPTOMS
 Sudden collapsed lung
 Aortic enlargement
 Severe near-sightedness
 Dislocated lens or retina
 Detached retina
 Early glaucoma and cataracts
DIAGNOSIS
 A complete physical exam
 Echocardiogram
 Electrocardiogram (EKG)
 An eye examination
 CT or MRI
 Genetic testing
TREATMENT
 No specific treatment
 Routine doctors appointments
 Surgery
 Medication
 Low blood pressure drugs
SUMMARY
 Affects the body’s connective tissues
 Mutation on gene FBRN-1 on chromosome 15
 Inherited/ New Mutation
 Causes elongated limbs or severer symptoms
 No set treatment
WORK’S CITED
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