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PASG 60100 Genetics > Ch. 16. 17. 19 > Flashcards

Ch. 16. 17. 19 Flashcards

1
Q

Thoracic aortic aneurysm

A

widening/bulging of upper portion of the aorta at the descending thoracic aorta, ascending aorta or aortic arch

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2
Q

Aortic dissection

A

longitudinal tear between layers of the aorta = may worsen due to high pressure flow inside aorta

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3
Q

What is TAAD?

A

familial thoracic aortic aneurysm and dissection

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4
Q

In aortic dissection, where does the tear begin?

A

intima layer → media layer → blood fills tears = exacerbates divide → tear goes down the vessel (towards or away from the heart)

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5
Q

What is cystic medial necrosis?

A

media layer of aorta loses smooth muscle fibers and elasticity

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6
Q

What is the pathological basis for weakening of the aortic wall in familial TAAD?

A

cystic medial necrosis

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7
Q

What is an aortic aneurysm?

A

abnormal dilation of aorta at the level of ascending aorta or sinuses of Valsalva (descending aorta)

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8
Q

What are the 3 primary manifestations of TAAD

A

Dilation of aorta at level of ascending aorta or at level of sinuses of Valsalva (descending aorta) |
Dissection of the ascending aorta | both

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9
Q

How is diagnosis of TAAD confirmed?

A

measuring dimensions of the aorta at level of sinuses of Valsalva AND measuring ascending aorta via CT, MRI or transesophageal echocardiography

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10
Q

When diagnosing for TAAD, what are some differential diagnoses to consider?

A

Marfan’s syndrome | other connective tissue diseases

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11
Q

What is a proband?

A

individual on pedigree who’s disease forms the center of the investigation = person around whom a pedigree is drawn

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12
Q

Which screening technique is most preferred for TAAD and why?

A

CT = available, noninvasive and easily tolerated

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13
Q

How does CT give an accurate result for TAAD?

A

measures from center of intraluminal flow to each side of aortic wall = accurate true diameter

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14
Q

What are 2 things used to screen for TAAD?

A

CT | aortic dissection bundle questions

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15
Q

What symptom of TAAD must a clinician strongly consider using the Aortic Dissection Bundle Questions?

A

chest pain for any age

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16
Q

What is a Type A dissection of TAAD?

A

Progressive enlargement of ascending aorta → aortic dissection/rupture

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17
Q

What is a Type B dissection of TAAD?

A

enlargement at aortic arch or distal to the arch and propagate distally

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18
Q

What are 4 clinical features of aortic aneurysms?

A

anterior chest pain | posterior chest pain | both | referred pain to left/bilateral shoulder(s)

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19
Q

What are the 4 Ps regarding signs and symptoms of dissections?

A

pallor | paresthesias (pins and needles) | pulselessness | paralysis

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20
Q

What are the 2 loci associated with TAAD?

A

FAA1 and TAAD1

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21
Q

What are the 4 genes associated with TAAD?

A

TGFBR1, TGFBR2, MYH11, ACTA2

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22
Q

What inheritance pattern does TAAD have?

A

autosomal dominant

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23
Q

Which TAAD gene has full penetrance?

A

TAAD1

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24
Q

Which TAAD gene has decreased penetrance? Which gender is it most common under?

A

FAA1 = women

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25
Q

Which TAAD gene is associated with patent ductus arteriosus?

A

MYH11

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26
Q

What are 2 TAAD physical findings associated with mutations in the ACTA2 gene?

A

livedo reticularis | iris flocculi

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27
Q

What is livedo reticularis?

A

web-like purplish skin discoloration caused by constriction of deep dermal capillaries

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28
Q

What is iris flocculi?

A

ocular abnormality associated with ACTA2 mutation in TAAD

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29
Q

What syndrome is associated with TAAD gene mutation of TGFBR1 or TGFBR2?

A

Loeys-Dietz syndrome

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30
Q

What is variable expressivity with TAAD?

A

2 affected individuals in a family may have different onset = one has earlier onset and other has later onset

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31
Q

What are 2 syndromes associated with familial TAAD?

A

Marfan’s | Loeys-Dietz syndrome

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32
Q

Which 2 mutations account for the majority of mutations in TAAD?

A

TAAD1 and ACTA2

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33
Q

What defines hypercholesterolemia?

A

fasting total blood cholesterol level of >240mg/dL

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34
Q

What is TC and LDL-C in hypercholesterolemia?

A

TC = total serum cholesterol | LDL-C = low-density lipoprotein cholesterol

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35
Q

What is the inheritance pattern for hypercholesterolemia? Which is more common?

A

autosomal dominant (more common) | autosomal recessive

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35
Q

What is low-density lipoprotein?

A

responsible for transporting cholesterol to extrahepatic (outside of liver) tissues

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36
Q

What 3 tissues does hypercholesterolemia commonly affect?

A

skin, tendons, and arteries

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37
Q

What is the normal function of the LDL receptor?

A

sequester and eliminate LDL from blood = controlling TC levels

38
Q

What does LDL do?

A

carries cholesterol in the blood –> LDL-C = LDL carrying a cholesterol molecule(s)

39
Q

What is allelic variant in FH (familial hypercholesterolemia)?

A

more than 1,000 different defects on LDLR gene

40
Q

What is atherosclerosis?

A

thickening of arterial walls due to lipid deposits = wall loses elasticity over time

41
Q

What are the 2 less common forms of hypercholesterolemia?

A

high TC and high cholesterol

42
Q

What are 2 effects of mutation of LDLR? (absent vs defective)

A

completely absent = more severe effects on phenotype | defect = still has LDL-C circulating but not as bad as latter

43
Q

How do plaques in FH form?

A

injury to intima layer of vessel = oxidizes passing LDL-C = recruits monocytes at injury site –> monocytes phagocytize oxidized LDL-C –> foamy lipid-laden macrophages (foam cells) = plaques

44
Q

What can cause injury to endothelium blood vessel walls?

A

infection, inflammation, smoking, and elevated LDL-C

45
Q

What is angina?

A

inadequate O2 delivery to heart muscles = exertional chest pain, relieved at rest

46
Q

How does atherosclerosis from FH cause angina and myocardia infarction?

A

70% plaque buildup in vessel = angina |

47
Q

How does atherosclerosis from FH cause angina and myocardia infarction?

A

70% plaque buildup in vessel = angina | >70% plaque buildup in vessel = complete blockage = no O2 delivery to heart = MI

48
Q

What are the 4 symptoms associated with FH?

A

atherosclerosis | xanthomas | xanthelasmata | arcus corneus

49
Q

What is xanthomas?

A

abnormal growths in the tendons due to cholesterol deposit accumulation at tendons

50
Q

What is TC and LDL-C in hypercholesterolemia?

A

TC = total serum cholesterol | LDL-C = low-density lipoprotein cholesterol

50
Q

What is xanthelasmata?

A

cholesterol deposits under skin or eyelids = yellow discoloration

51
Q

What is arcus corneus?

A

corneal disease due to cholesterol deposits at peripheral border of cornea

52
Q

What are the 5 genes mutated involved in FH?

A

LDLR ; APOB ; LDLRAP1 ; PSCK9 : I gene

53
Q

What effect does mutation in APOB have on FH?

A

familial defective apolipoprotein B-100 = LDL-C can’t bind LDL-C to surface receptors

54
Q

What effect does mutation in LDLRAP1 have on FH?

A

receptors can’t transport sequestered LDL-C across membrane

55
Q

Which FH gene mutation is autosomal recessive?

A

LDLRAP1

56
Q

What kind of mutation does the PSCK9 mutated gene have in FH? What happens?

A

gain of function | PSCK9 breaks down LDL receptors at a HIGHER rate than normal

57
Q

What kind of mutation does the mutated I gene have in FH? What happens?

A

loss of function | decreased activity of PCSK9 = decrease LDL receptor degradation = LDL-C can be uptaken into cell

58
Q

What are the 4 screening methods for FH?

A

family history | pedigree | fasting lipid profile | cascade screening (family tracing)

59
Q

What is the target goal for TC levels in FH?

A

100 mg/dL

60
Q

What is Marfan’s Syndrome?

A

Connective tissue disorder that affects many organs such as eyes, aorta, skin. Characterized by long bones

61
Q

What is the genetic cause of Marfan’s Syndrome?

A

de novo or inherited mutation in FBN1 gene on chromosome 15

62
Q

What inheritance pattern does Marfan’s Syndrome follow?

A

autosomal dominant

63
Q

What is the percent of Marfan Syndrome cases occurs due to de novo mutation?

A

25%

64
Q

What is the typical body type of those with Marfan’s Syndrome?

A

tall thin stature with long thin arms and legs

65
Q

What are 5 skeletal atypicalities of Marfan’s Syndrome?

A

arachnodactyly | dolichostenomelia | overcrowded teeth | scoliosis | chest deformities (pectus excavatum or pectus carinatum)

66
Q

What is arachnodactyly?

A

long slender spiderlike fingers and toes comparison to soles and palms

67
Q

What is dolichostenomelia?

A

arm span exceeding body height

68
Q

What is pectus excavatum?

A

chest concaves in

69
Q

What is pectus carinatum?

A

chest protrudes forward (ie: pigeon’s chest)

70
Q

What are 2 ocular defects due to Marfan’s Syndrome?

A

myopia | ectopia lentis

71
Q

What are 2 cardiac abnormalities due to Marfan’s Syndrome?

A

Valve defects (mitral and aortic = most common) | Valvular insufficiency

72
Q

What are 4 symptoms of valvular insufficiency with Marfan’s Syndrome?

A

SOB | fatigue | palpitations | murmurs

73
Q

What are 5 other associated findings with Marfan’s Syndrome?

A

spontaneous pneumothroax | hernias | bullae development in lungs | skin stretch marks | high risk pregnancies

74
Q

What are the 2 things the clinical diagnosis of Marfan Syndrome is made based on?

A

family history and 4 physical examination findings

75
Q

What 4 physical examination findings does the clinical diagnosis of Marfan’s Syndrome is made based on?

A

dura ectasia | ectopia lentis | aortic dilation/dissection at level of sinuses of Valsalva | 4 of 8 specified skeletal features

76
Q

What is ectopia lentis?

A

displaced lens

77
Q

What is dura ectasia?

A

stretching of dural sac in lumbosacral spine

78
Q

What is the normal function of FBN1 gene?

A

normal protein fibrillin-1 which regulates growth/repair of tissues AND combines with other structural proteins to form microfibrils

79
Q

What are microfibrils?

A

integral fibers that give strength and flexibility to all connective, load-bearing tissues

80
Q

What is dominant negative mutation?

A

mutated allele disrupts the function of a normal allele in the same cell

81
Q

How is a mutated FBN1 gene a dominant negative mutation?

A

mutated FBN1 gene inhibits production of normal fibrilin-1 protein = blocks formation of normal microfibrils —-> mutated protein in scaffold = loses integrity and strength of entire structure

82
Q

What is the penetrance % of Marfan’s Syndrome?

A

100%

83
Q

What is genetic heterogeneity?

A

different gene mutations lead to same/similar phenotype

84
Q

How does Marfan’s Syndrome exhibit genetic heterogeneity and variable expressivity?

A

specific FBN1 mutations are scattered across gene –> combination of mutations will vary in expressivity

85
Q

What is a genocopy?

A

similar phenotype expression but different genotypes (and different disease)

86
Q

What are the 4 current surveillance recommendations for Marfan syndrome?

A

family and medical history | annual echocardiograms | molecular genetic testing | linkage analysis

87
Q

What is Fredrickson classification in hyperlipidemia?

A

Method of determining the phenotype to select the appropriate pharmacotherapeutic agents.

88
Q

What is the relationship between LDL-C and coronary artery disease?

A

reduction of one disease in adults is directly proportional to a reduction of the other disease.

ie: 5% reduction in LDL-C is equivalent to a 5% reduction in coronary events.

89
Q

For TAAD associated with TGFBR2 mutations what congenital condition can be involved?

A

bicuspid aortic valve

90
Q

What screening technique is used for any initial screening for TAAD?

A

CT

91
Q
A

PASG 60100 Genetics (16 decks)

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