Connective Tissue Disorders

Question 1

In general, if aortic root dimension is with normal range for body surface area the risk of aortic dissection is considered to be very low. What is the one condition that is an exception to this statement?

A. Familial arterial tortuosity syndrome
B. Familial thoracic aortic aneurysm and dissection
C. Loeys-Dietz syndrome
D. Marfan syndrome

Answer 1

C. Loeys-Dietz syndrome

also other phenotypes associated with TGFBR1 and TGFBR2 mutations–can dissect in the absence of much if any dilatation

Question 2

Most connective tissue disorders are inherited in an autosomal dominant fashion. Name a condition that has another pattern of inheritance.

Answer 2

arterial tortuosity syndrome (autosomal recessive)

Question 3

Lumbosacral dural ectasia is almost never seen in the absence of a systemic disorder. Name 2 connective tissue disorders where it is seen.

Answer 3

1. Marfan syndrome

2. Loeys dietz syndrome

Question 4

In a case of Marfan syndrome what is the longest that an individual go between echos?

Answer 4

If aortic root dimensions are normal, most is 1 year

Question 5

What proportion of Marfan syndrome is due to a fresh gene mutation?

Answer 5

1/3

Question 6

Define lumbosacral dural ectasia

Answer 6

=stretching of the dural sac in the lumbosacral area.

• results in bone erosion and nerve entrapment
• presents with low back pain, leg weakness or numbness.
• Usually diagnosed based on imaging
• Seen in Marfan syndrome and Loeys-Dietz
• Rarely seen as an isolated phenomena

Question 7

Define protrusion acetabuli

Answer 7

=acetabular protrusion

• medial displacement of the acetabulum and femoral head so that they are abnormally deep and project more into the pelvis than is normal
• results in accelerated bone erosion
• presents with pain commonly, diagnosed by characteristic appearance on xrays
• most common cause is osteoarthritis, associated with Marfan syndrome, OI

Question 8

Name the 5 characteristic facial features in Marfan syndrome. How many do you need to have to get a point on Ghent criteria?

Answer 8

• Need 3/5
  1. Long, narrow face
  2. deep set eyes (enophthalomos)
  3. downslanting palpebral fissures
  4. malar hypoplasia
  5. micro/retrognathia

Question 9

What percentage of individuals with Marfan syndrome have ectopia lentis?

Answer 9

=60%

Question 10

What are the long-term ocular risks/sequelae of Marfan syndrome?

Answer 10

1. Increased risk of retinal detachment
2. glaucoma
3. early cataracts

Question 11

True or false: to count as a true wrist sign the thumb needs to cover only half of the pinkie finger nail bed.

Answer 11

False! Needs to cover all.