Mod 6-5 Marfan's Syndrome

Question 1

What is Marfan’s syndrome?

Answer 1

An autosomal (non-sex chromosomes) dominant disorder of connective tissue.

Question 2

What is the purpose of connective tissue?

Answer 2

To hold the body together and provide framework for growth and development.

Question 3

What are the functions of connective tissue?

Answer 3

• Support and connect internal organs
• Form bones and the walls of blood vessels
• Attach muscle to bone

Question 4

There are over ___ disorders in which connective tissue is defective each with its own symptoms and varied clinical manifestations.

Answer 4

200

Question 5

What is the definition of Marfan’s syndrome?

Answer 5

A hereditory disorder of connective tissue characterized by abnormal length of extremities, congenital abnormalities of the cardiovascular system and other deformities.

Question 6

What is connective tissue composed of?

Answer 6

Millions of long fibers

Question 7

What makes connective tissue either soft and pliable (skin) or strong and hard (bone)?

Answer 7

The density of fibers and the presence or absence of certain chemicals

Question 8

What fraction of patients with Marfan’s syndrome have a parent that is also affected?

Answer 8

3/4ths

Question 9

Because connective tissue is flawed, what happens as a result?

Answer 9

There is an impaired structural integrity in a variety of organs and systems.

Question 10

What organs and organ systems are affected by Marfan’s syndrome?

Answer 10

• Cardiovascular
• Skeletal
• Ocular
• Lungs
• Skin

Question 11

Most patients with Marfan’s syndrome are ___-sighted which is also known as _____.

Answer 11

near; myopic

Question 12

What exactly happens to the eye in those with Marfan’s syndrome?

Answer 12

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.

Question 13

When does lens dislocaiton occur with Marfan’s syndrome?

Answer 13

Can be present at birth or may develop during childhood or adolescence.

Question 14

What can happen as a result of lens dislocation?

Answer 14

• Vision will be disrupted to the point that loss of vision is possible or retinal detachment is possible.
• Early cataracts and glaudoma

Question 15

List Marfan syndrome skeletal abnormalities.

Answer 15

• arachynodactyly (fingers are long, slender and curved)
• spinal abnormalities
• chest deformities

Question 16

What cardiovascular abnormality is possible with Marfan syndrome?

Answer 16

Dissecting aneurysm (wall of an artery rips)

Question 17

What is the typical stature of someone with Marfan’s syndrome?

Answer 17

• Tall, slender and loose jointed
• Arms, legs, fingers and toes may be disproportionately long in relation to the rest of their body

Question 18

What type of abnormalities are common in Marfan’s Syndrome?

Answer 18

Spinal abnormalities

Question 19

What percentage of patients with Marfan’s syndrome will have either scoliosis or thoracic kyphosis?

Answer 19

More than 60%

Question 20

What does pain in the sacral area indicate?

Answer 20

A widening of the spinal canal called dural ectasia.

Question 21

What is dural ectasia?

Answer 21

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

Question 22

What are the two chest deformities associated with Marfan’s syndrome?

Answer 22

• Pectus carinatum
• Pectus excavatum

Question 23

Of the two types of chest deformities assocated with Marfan’s syndrome, which is more serious?

Answer 23

Pectus excavatum, can interfere with breathing

Question 24

What must be done with chest deformities if they interfere with respiration?

Answer 24

Surgical repair

Question 25

What percentage of patients with Marfan's syndrome have abnormalities of heart and blood vessels?

Answer 25

60-90%

Question 26

Abnormalities of the heart and vessels seem to particularly affect what part of the heart in patients with Marfan syndrome?

Answer 26

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

Question 27

If the heart weakness is a major one, a heart _______ may be present and associated with what?

Answer 27

murmur; SOB, fatigue and fast or irregular heart beat.

Question 28

What is the MAJOR problem for those with Marfan's?

Answer 28

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.

Question 29

Where does an aneurysmal dilation often occur?

Answer 29

At the root of the aorta just where it exits the heart.

Question 30

If an aneurysm is large, 6 cm, it may what?

Answer 30

Rupture rather than dissect causing sudden death.

Question 31

What is the mortality rate of dissection for those without treatment?

Answer 31

50% by the end of one week

Question 32

What is a common characterisitc of teh aortic aneurysm that is seen on a chest radiograph (Marfan's syndrome)?

Answer 32

Widened mediastinal area

Question 33

What must be considered when adjusting radiographic technical factors with Marfan's patients?

Answer 33

* Lack of subcutaneous fat and low muscle tone is destructive (decrease technique) * Pneumothorax is destructive (decrease technique) * Aortic aneurysm (additive, increase technique)

Question 34

What body habitus may someone with Marfan's syndrome have?

Answer 34

True asthenic patient