Thoracic Aorta Flashcards
What are the structural elements of blood vessels?
type I collagen
type III collage
elastin, firbillin
type IV collagen, laminin
type V, VI vollagen
proteoglycans
What is the mutation of
Marfans?
Ehlers-danlos IV?
Loeys-dietz?
Familial Thoracic Aortic Aneurysm?
FBN1
COL3A1
TGFBR1 TGFBR2
MYH11, TGFBR2
What are the three systems involved in Marfans?
cardiovascular, ocular, skeletal
What are clinical manifestations of Marfans?
skeletal
pectus
dispropotionate limbs
scoliosis
elevated palate
ocular
ectopia lentis
CV
aneurysm
MVP
DCM
In what setting should you stent marfans?
what are the consequences?
only in acute rupture
25% will have new dissection
40% primary graft failure (mort 42%)
What is the transmission pattern of EDS IV
Autosomal dominant
50% new mutations
What are feature of EDS IV?
Joint hypermobility, skin hypermobility, tissue fragility affecting the skin, joints, rupture blood vessels, internal organs
At what diameter do vessels rupture in EDS?
no particular diameter
can be normal
What is the complication rate associated with EDS and angiography?
67%
12% mortalityvg
What aneurysm pattern is unique to EDS?
iliac aneurysms that spare the bifurcation
What are the features of LDS?
type I severe craniofacial defects and aortic aneurysm
type II less severe craniofacial and aortic aneurysm (usually only bifid uvula or high palate)
hypertelorism (wide set eyes)
What are the leading causes of death in LDS?
thoracic dissection followed by abdominal dissection and cerebral haemorrhage
What is the pathogenesis of the Marfans mutation?
fragmented elastin with microfibrils that are susceptible to enzymatic digestion
What is the pathogenesis of the EDS mutation?
type III collagen formed incorrectly and never excreted from the cell.
what is the pathogenesis of the LD mutation?
similar to marfans
lower elastin contents with elastin fragmented and in disarray.
