Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

R9 > Chapter 140 - aneurysms caused by connective tissue abnormalities > Flashcards

Chapter 140 - aneurysms caused by connective tissue abnormalities Flashcards

1
Q

Connective tissue disease that lead to aneurysms

A

1) Marfan syndrome 2) Vascular type of Ehlers-Danlos (EDS IV or VEDS) 3) Loeys-Dietz 4) familial thoracic aortic aneurysm and dissection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Connective tissue disease define

A

1) genetic disease 2) primary target is collagen or elastin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Structural elements of blood vessels

A

TABLE 140.1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

First description of Marfan

A

1896 Antonin-Bernard Marfan 1943 first full description

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Marfan epidemiology

A

1) 2-3/10000 2) autosomal dominant 3) 25% sporadic de novo mutation 4) no gender predisposition

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Cause of death in marfan

A

1) aortic rupture 2) aortic dissection 3) valvular disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Pathogenesis of Marfan

A

1) Fibrillin-1 (FBN1) mutation 2) failure to maintain normal elastic fibers 3) matrix metalloproteinase 2 and 9 4) inflammation and calcification weakens elastic fibers ALSO 2) TGF beta complex cannot bind microfibril 3) excessive TGF beta signalling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Ghent criteria for Marfan 2010 revised

A

BOX 140.1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Criteria for causal FBN1 mutation

A

BOX 140.2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

MASS phenotype

A

1) Mitral valve prolapse 2) myopia 3) mild aortic root dilatation 4) striae 5) mild skeletal changes FBN1 mutation created premature termination codons

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Shprintzen-Goldberg syndrome

A

1) craniosynostosis 2) facial hypoplasia 3) anterior chest deformity 4) arachnodactyly 5) aortic root dilatation 6) developmental delay FBN1 point mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Locus of marfan disease genetic chromosome

A

15q21.1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Homocystinuria

A

Deficiency of cystathionine beta-synthase 1) long bone overgrowth 2) ectopia lentis 3) NO aortic enlargement 4) mental retardation 5) thromboembolism 6) coronary disease 7) elevated homocysteine autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Congenital contractural arachnodactyly

A

1) NO ocular and cardiovascular manifestation FBN2 gene mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Differential for Marfan

A

1) MASS phenotype 2) Shprintzen-Goldberg syndrome 3) Homocystinuria 4) Congenital contractural arachnodactyly 5) Loeys Dietz

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Marfan manifestation

A

1) ocular 2) skeletal 3) cardiovascular

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

When does aortic root dilatation begin in Marfan

A

In utero

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Indication to repair aortic root in Marfan

A

1) children growth > 1cm/yr 2) Z score > 2-3 SD 3) adult > 5cm 4) family history of dissection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Z score define

A

Nomogram defining the number of SD of the patient aortic root diameter from mean diameter of population

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Prevention of aortic root disease in Marfan

A

Avoid burst exertions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Medical treatment of Marfan aortic root growth

A

1) beta-blocker 2) losartan (also reduces TBAD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Target HR in Marfan

A

70 beats/min at rest 100 beats/min with exercise

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Beta blocker effect weaker when these conditions occur

A

1) heavier patient 2) diameter > 4cm already

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Losartan regimen in Marfan

A

maximum 2mg/kg up to 100 mg

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Indication for surgical repair in Marfan

A

1) aortic root > 5cm 2) arch and descending > 5.5-6 cm 3) symptomatic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

First thoracoabdominal aortic repair in marfan

A

Crawford 1980

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Long term mortality and spinal cord injury in marfan vs atherosclerotic disease

A

Lower mortality and lower risk of spinal ischemia in Marfan’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Key long term complicadtion of open aortic repair in Marfan

A

Visceral patch degeneration into aneurysm Repair when 6cm or larger

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

SINE stands for what in terms of endo aortic repair

A

Stent-graft induced new entry tears

30
Q

Rate of new dissection in endo repair of marfan aorta

A

25% mortality is 42% after treatment failure

31
Q

Subtypes of Ehlers-Danlos

A

TABLE 140.2

32
Q

Pathogenesis of type 4 EDS

A

defective type 3 procollagen (COL3A1 gene)

33
Q

Epiedmiology of EDS 4 and genetics

A

1) 1 in 50000-90000 2) autosomal dominant 3) 50% are de novo 4) each family carries a unique mutation in COL3A1 gene

34
Q

EDS4 life expectancy

A

48 (6-73) years

35
Q

Natural history of EDS4

A

1) Age 20 25% had complication 2) Age 40, 89% major complication vascular and GI and reproductive

36
Q

Cause of death in EDS4

A

1) vascular rupture 60% 2) CNS hemorrhage 7% 3) unspecified bleed 12% 4) organ rupture 10% 5) intestinal rupture 8%

37
Q

COL3A1 gene function

A

1) Codes proal(III) = procollagen molecule 2) 3 procollagen molecule form alpha chain triple helix 3) mutation prevents triple helix and are degraded before being secreted extracellularly

38
Q

Diagnostic criteria for EDS4

A

MAJOR 1) thin translucent skin 2) arterial/intestinal/uterine fragility or rupture 3) extensive bruising 4) characteristic facial appearance MINOR 1) acrogeria (taut thin skin) 2) hypermobility of small joints 3) tendon and muscle rupture 4) talipes equinovarus (clubfoot) 5) early onset varicose veins 6) AV carotid-cavernous sinus fistula 7) pneumothorax/pneumohemothorax 8) gingival recession 9) positive family history, sudden death in one or more close relatives

39
Q

Testing for EDS4

A

Direct molecular genetic analysis of COL3A1 gene from serum sample

40
Q

Most often type of dissections in EDS4

A

Medium sized vessels unlike MFS where it’s mostly in aorta

41
Q

Differentiating between EDS4 and LDS in terms of arterial tortuosity syndrome

A

Surgery well tolerated in LDS but not in EDS4

42
Q

Anesthesia considerations in treating EDS4

A

1) cross match adequate blood 2) avoid IM injections 3) ensure adequate peripheral access 4) avoid art line and CVC 5) gentle intubation maneuvers

43
Q

Rate of true aneurysms in EDS4

A

14%

44
Q

Complication rate and mortality in EDS4 from access site

A

67% complication, 12% mortality

45
Q

Suture techniques for bleeds in EDS4

A

1) vessel ligation with umbilical tape when possible 2) pledgetted tensionless reconstruction 3) circumferentially reinforced

46
Q

Signs that EDS4 patient has inoperable tissue fragility

A

1) identified < 20 years old 2) multiple asymptomatic dissection/aneurysms noted

47
Q

Nonvascular complications in EDS4

A

GI perforation 25% - sigmoid most common - ostomy first

48
Q

Rate of recurrent bowel perf in EDS4

A

17% in 26 years

49
Q

Non-surgical treatment of EDS4

A

1) celiprolol (controversial) 2) BP control 3) lifestyle modifications 4) Factor VII transfusion

50
Q

Hopkins 1994-2009 recommendation in EDS4

A

1) liberal use of adjunctive technique to reduce operative trauma 2) padded surgical clamps 3) permissive hypotension (SBP 70-80) during clamp and anastamosis testing

51
Q

Unique iliac aneurysms in EDS4

A

1) spares aortic bifurcation 2) bell-bottom CIA

52
Q

Role of endo in EDS4

A

1) generally do not use 2) access site problem needs open repair 3) embolization of aortic branch and medium vessel and carotid-cavernous sinus fistula can work

53
Q

Maternal mortality in 2 weeks post partum in EDS4

A

15%

54
Q

Loeys Dietz Syndrome classic symptoms

A

1) aortic syndrome with aneurysm and vascular tortuosity 98% 2) craniaofacial abn (bifid uvula, cleft palate) 90% 3) hypertelorism (90%) 4) craniosynostosis (premature closure of skull) 48% 5) malar hypoplasia (flat midface) 60% 6) blue sclerae 40%

55
Q

Gene mutation in LDS

A

1) Heterozygous mutation 2) TGF beta receptor 1 and 2 (TGFBR1, TGFBR2) 3) SMAD3 4) TGF-B2 receptor

56
Q

Subtypes of LDS

A

TYPE 1: severe craniofacial and aortic aneurysm TYPE 2: less severe craniofacial (bifid uvula or high palate) and aneurysm TYPE 3: aortic aneurysm with early-onset osteoarthritis TYPE 4: aortic aneurysm, cerebral aneurysm, arterial tortuosity

57
Q

Cardinal manifestation of LDS aorta

A

1) aortic root dilatation 2) rupture and dissect at lower diameters than MFS and EDS4

58
Q

Systemic features in LDS

A

BOX 140.4

59
Q

Onset of disease in different LDS subtypes

A

More craniofacial abn = more aggressive aortic path = earlier surgery TYPE 1: first surgery 16.9 years old; death 22.6 years old TYPE 2: first surgery 26.9 years old; death 31.8 years old TYPE 3 and 4 later onset

60
Q

Difference in eye manifestation of LDS from MFS

A

Lens dislocation (ectopia lentis) only in MFS

61
Q

Size and growth of aortic aneurysm indicating repair in LDS

A

4 cm growth > 0.5 cm/year

62
Q

Medical treatment of LDS

A

beta blocker, losartan (for TGF beta activity) and lifestyle modification no clear evidence

63
Q

How to avoid kinking in visceral aortic repair to the branches

A

360 degrees wrapping of the branch graft minimize patch inclusion from the vessel wall to prevent patch degeneration and patch aneurysm

64
Q

Familial thoracic aortic aneurysm and dissection definition

A

1) not MFS, EDS4, LDS 2) 11-19% of all still have first degree relative 3) audosomal dominant with variable penetrance and expression

65
Q

TAAD1 locus 5q13-14 key points

A

1) autosomal dominant 2) women less affected 3) ascending aorta involvement

66
Q

Pathogenesis of familial TAAD

A

1) medial degeneration 2) disarray of SMC and accumulation of proteoglycan

67
Q

ACTA2 mutation alpha-actin mutation

A

1) 14% of familial TAAD 2) low penetrance and does not change with age (different from other TAAD types)

68
Q

Familial TAAD age onset of aneurysm vs sporadic aneurysms

A

58.2 years vs 65.7 years otherwise normal

69
Q

Aneurysm frequency and types in familial TAAD

A

1) thoracic 66% 2) AAA 25% 3) cerebral 8-10%

70
Q

Ascending and descending aorta in familial TAAD, aneurysm vs dissection frequency

A

Ascending aneurysm 82%; dissection 18% Descending aneurysm, dissection 50/50%

71
Q

Size for repair of familial TAAD aneurysms

A

Same as others 6 thoracic 5.5 abdominal growth is faster 0.21 vs 0.16cm/yr

R9 (200 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions