Marfan Syndrome presentation
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PRESENTATION OUTLINE
Marfan syndrome also known as MFS and Arachnodactyly, effects the connective tissues in the body. It occurs mostly in the circulatory system, making it a possibly for this disorder to effect the heart, lungs, blood vessels, bones joints, skin, and eyes. 1 /5,000 children are affected by this disorder. I
Connective tissue is what holds and supports other tissues and organs
Eye on the left is a normal eye eye on right is a Marfan syndrome eye which has a dis placed lens
Eye on the left is a normal eye eye on right is a Marfan syndrome eye which has a dis placed lens
SYMPTOMS (FEATURES)
- Long arms & fingers
- Chest cavity
- Short torso
- Long legs & toes
- Tall
- Thin
- Curved spine (scoliosis)
Most common symptoms are the feature of being very tall with long arms and fingers
Cardiac problems may occur
Cardiac problems may occur
SYMPTOMS ( HEALTH)
- Lens retinal detachment cataract
- Aortic aneurysm
- Weak heart valves
- Possible lung collaspion
Aortic aneurysm : ballooning of the aorta due to weak wall
Dissecting aortic aneurysm with exsanguination : death due to saver blood loss from a tear in the line ig of aorta resulting in extension of the tear through wall of aorta due to high pressure causeing shock and death without immediate surgery
Dissecting aortic aneurysm with exsanguination : death due to saver blood loss from a tear in the line ig of aorta resulting in extension of the tear through wall of aorta due to high pressure causeing shock and death without immediate surgery
CHROMOSOME/GENE EFFECTED
Chromosome number 15 is mutated. The gene changed is the gene that makes the protein FBN1
FBN1 stands for fibrillin
The gene is called fibriiliin 1
FBN1 is responsible for structural component of calcium-binding microfibrilsq
The gene is called fibriiliin 1
FBN1 is responsible for structural component of calcium-binding microfibrilsq
MUTATION AFFECTING THE GENE
- Cysteine amino acid substitutions in the 26 to 32 region of the Fibrillin 1 gene due to missense mutation.
With the missense mutations in the FBN 1 gene the amino acid cysteine substitutes certain amino acids in the normal protein structure creating an abnormal protein that is weaker to carry out then the normal function of fibrillin which makes connective tissue in the body including blood vessels weak
Missense : mutation that creates an abnormal protein that is weaker then the normal protein
Missense : mutation that creates an abnormal protein that is weaker then the normal protein
Disorder is autosomal dominate. Inherited by one of the parents. Both genders can be effected. Any child who's parent has marfan syndrome could be a candidate.
Prenatal tests are Amniocentesis and Chorionic villi sampling
Gel electrophoresis
Punnet square
Family pedigree
Long term prognosis
The overall prognosis and our look for the child is to have regular doctor visits and check ups
As the child gets older he or she should have regular heart check up or surgeries if needed
As the child gets older he or she should have regular heart check up or surgeries if needed
TREATMENT OR CURE
- Medication to reduce strain in aorta
- Brace for curved spine (scoliosis)
- Possible surgeries ...
- Eye glasses or surgery
Unfortunately there are no cures just treatments such as
Taking medication for aorta dilation and possible surgery for major heart condition due to the disorder
Brace for curved spine
Glasses or surgery for the eyes
Can cause a collapse lung and would need surgery
Treatment usually includes medications to keep your blood pressure low to reduce the strain on your aorta
Taking medication for aorta dilation and possible surgery for major heart condition due to the disorder
Brace for curved spine
Glasses or surgery for the eyes
Can cause a collapse lung and would need surgery
Treatment usually includes medications to keep your blood pressure low to reduce the strain on your aorta
Current status of research for Marfan syndrome is preventative surgery, regular heart monitoring, and regular check ups.
Currently not close to any cures
* No laws against genetic testing in Indiana
* people view religious rights differently
* Tension between spouse and family members
Tensions with the church's
Not giving the child a say in weather they want to know if they have a genetic disorder or not
Not giving the child a say in weather they want to know if they have a genetic disorder or not
Untitled Slide
Ultimately the decision is up to the Smiths but even with a 50% chance it is not as severe as other disorders
Photo by Nanagyei
