Transcript MarFan Overview - Marfan Support and Information

Marfan Syndrome
Introduction &
Overview
What is Marfan
Syndrome?
Connective Tissue Disorder
Malformation of Chromosome 15
• Affects bodily structures:
• Skeleton
• Lungs
• Eyes
• Heart
• Blood vessels
What is Connective
Tissue?
“Cellular Glue”
The material between the cells of
the body that gives tissues form
and strength
Serves to support, bind together,
and protect organs
Skeleton
Affects people in different ways
• very tall
• Slender
• loose jointed
• arms, legs, fingers, and toes may
be disproportionately long
• long, narrow face
• Sternum protruding or indented
• curvature of the spine (scoliosis)
• flat feet
Eyes
Affects people in different ways
• dislocation of one or both lenses
• Retinal detachment - possible serious
complication
• nearsighted (myopic),
• glaucoma (high pressure within the
eye)
• cataracts
Cardiovascular
Affects people in different ways
• problems associated with the heart
and blood vessels
• abnormal valve motion - heart murmur
• left chambers of the heart is defective
• shortness of breath, fatigue and
palpitations
• aortic dilation - sudden death
Nervous system
Affects people in different ways
• dural ectasia - widening of the spinal
fluid sac
• mild discomfort or may lead to radiated
pain in the abdomen or to pain,
• numbness and weakness of the legs
Skin
Affects people in different ways
• stretch marks - without any significant
weight change
• abdominal or inguinal (groin) hernia
Lungs
Affects people in different ways
• Restrictive lung disease
• Spontaneous pneumothorax
• early emphysema, without a history of
smoking
• snoring and sleep apnoea
Regan Lawton
Father Deceased 1997
Left lens removed
Visual requirements
Bifocal Glasses
Inevitable Aortic Dissection
Beta Blockers
Summary
• Surgery
• Better Nutrition
• Beta blockers
• Prevention
• Avoid extensive exercise contact sports and heavy
weights
Marf Man – Anatomy of
a Superhero
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