Mod 6-5 Marfan's Syndrome Flashcards
What is Marfan’s syndrome?
An autosomal (non-sex chromosomes) dominant disorder of connective tissue.
What is the purpose of connective tissue?
To hold the body together and provide framework for growth and development.
What are the functions of connective tissue?
- Support and connect internal organs
- Form bones and the walls of blood vessels
- Attach muscle to bone
There are over ___ disorders in which connective tissue is defective each with its own symptoms and varied clinical manifestations.
200
What is the definition of Marfan’s syndrome?
A hereditory disorder of connective tissue characterized by abnormal length of extremities, congenital abnormalities of the cardiovascular system and other deformities.
What is connective tissue composed of?
Millions of long fibers
What makes connective tissue either soft and pliable (skin) or strong and hard (bone)?
The density of fibers and the presence or absence of certain chemicals
What fraction of patients with Marfan’s syndrome have a parent that is also affected?
3/4ths
Because connective tissue is flawed, what happens as a result?
There is an impaired structural integrity in a variety of organs and systems.
What organs and organ systems are affected by Marfan’s syndrome?
- Cardiovascular
- Skeletal
- Ocular
- Lungs
- Skin
Most patients with Marfan’s syndrome are ___-sighted which is also known as _____.
near; myopic
What exactly happens to the eye in those with Marfan’s syndrome?
The muscles (formed of connective tissue) that normally hold the lens of the eye in place weakens and allows the lens to move out of normal position.
When does lens dislocaiton occur with Marfan’s syndrome?
Can be present at birth or may develop during childhood or adolescence.
What can happen as a result of lens dislocation?
- Vision will be disrupted to the point that loss of vision is possible or retinal detachment is possible.
- Early cataracts and glaudoma
List Marfan syndrome skeletal abnormalities.
- arachynodactyly (fingers are long, slender and curved)
- spinal abnormalities
- chest deformities
What cardiovascular abnormality is possible with Marfan syndrome?
Dissecting aneurysm (wall of an artery rips)
What is the typical stature of someone with Marfan’s syndrome?
- Tall, slender and loose jointed
- Arms, legs, fingers and toes may be disproportionately long in relation to the rest of their body
What type of abnormalities are common in Marfan’s Syndrome?
Spinal abnormalities
What percentage of patients with Marfan’s syndrome will have either scoliosis or thoracic kyphosis?
More than 60%
What does pain in the sacral area indicate?
A widening of the spinal canal called dural ectasia.
What is dural ectasia?
Widening of the spinal canal. The dura (outer membrane) of the spinal canal weakens with age and begins to stretch and balloon outward.
*Similar to meningocele in spina bifida
What are the two chest deformities associated with Marfan’s syndrome?
- Pectus carinatum
- Pectus excavatum
Of the two types of chest deformities assocated with Marfan’s syndrome, which is more serious?
Pectus excavatum, can interfere with breathing
What must be done with chest deformities if they interfere with respiration?
Surgical repair
What percentage of patients with Marfan’s syndrome have abnormalities of heart and blood vessels?
60-90%
Abnormalities of the heart and vessels seem to particularly affect what part of the heart in patients with Marfan syndrome?
The valve between the left chambers of the heart and teh aorta.
*Floppyness of the valve, weak connective tissue that results in abnormal valve motion when teh heart beats possibly leading to heart murmur
If the heart weakness is a major one, a heart _______ may be present and associated with what?
murmur; SOB, fatigue and fast or irregular heart beat.
What is the MAJOR problem for those with Marfan’s?
High risk of aneurysm which may lead to aortic dissection or aortic rupture.
*Due to faultyconnective tissue wall of aorta may be weakened producing an aortic dilatation or aneurysm.
Where does an aneurysmal dilation often occur?
At the root of the aorta just where it exits the heart.
If an aneurysm is large, 6 cm, it may what?
Rupture rather than dissect causing sudden death.
What is the mortality rate of dissection for those without treatment?
50% by the end of one week
What is a common characterisitc of teh aortic aneurysm that is seen on a chest radiograph (Marfan’s syndrome)?
Widened mediastinal area
What must be considered when adjusting radiographic technical factors with Marfan’s patients?
- Lack of subcutaneous fat and low muscle tone is destructive (decrease technique)
- Pneumothorax is destructive (decrease technique)
- Aortic aneurysm (additive, increase technique)
What body habitus may someone with Marfan’s syndrome have?
True asthenic patient
