Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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

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

Aortic dissection

A

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

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

What is TAAD?

A

familial thoracic aortic aneurysm and dissection

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

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

What is cystic medial necrosis?

A

media layer of aorta loses smooth muscle fibers and elasticity

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

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

A

cystic medial necrosis

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

What is an aortic aneurysm?

A

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

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

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

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

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

A

Marfan’s syndrome | other connective tissue diseases

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

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

Which screening technique is most preferred for TAAD and why?

A

CT = available, noninvasive and easily tolerated

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

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

What are 2 things used to screen for TAAD?

A

CT | aortic dissection bundle questions

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

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

A

chest pain for any age

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

What is a Type A dissection of TAAD?

A

Progressive enlargement of ascending aorta → aortic dissection/rupture

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

What is a Type B dissection of TAAD?

A

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

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

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

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

A

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

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

What are the 2 loci associated with TAAD?

A

FAA1 and TAAD1

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

What are the 4 genes associated with TAAD?

A

TGFBR1, TGFBR2, MYH11, ACTA2

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

What inheritance pattern does TAAD have?

A

autosomal dominant

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

Which TAAD gene has full penetrance?

A

TAAD1

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

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

A

FAA1 = women

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Which TAAD gene is associated with patent ductus arteriosus?
MYH11
26
What are 2 TAAD physical findings associated with mutations in the ACTA2 gene?
livedo reticularis | iris flocculi
27
What is livedo reticularis?
web-like purplish skin discoloration caused by constriction of deep dermal capillaries
28
What is iris flocculi?
ocular abnormality associated with ACTA2 mutation in TAAD
29
What syndrome is associated with TAAD gene mutation of TGFBR1 or TGFBR2?
Loeys-Dietz syndrome
30
What is variable expressivity with TAAD?
2 affected individuals in a family may have different onset = one has earlier onset and other has later onset
31
What are 2 syndromes associated with familial TAAD?
Marfan's | Loeys-Dietz syndrome
32
Which 2 mutations account for the majority of mutations in TAAD?
TAAD1 and ACTA2
33
What defines hypercholesterolemia?
fasting total blood cholesterol level of >240mg/dL
34
What is TC and LDL-C in hypercholesterolemia?
TC = total serum cholesterol | LDL-C = low-density lipoprotein cholesterol
35
What is the inheritance pattern for hypercholesterolemia? Which is more common?
autosomal dominant (more common) | autosomal recessive
35
What is low-density lipoprotein?
responsible for transporting cholesterol to extrahepatic (outside of liver) tissues
36
What 3 tissues does hypercholesterolemia commonly affect?
skin, tendons, and arteries
37
What is the normal function of the LDL receptor?
sequester and eliminate LDL from blood = controlling TC levels
38
What does LDL do?
carries cholesterol in the blood --> LDL-C = LDL carrying a cholesterol molecule(s)
39
What is allelic variant in FH (familial hypercholesterolemia)?
more than 1,000 different defects on LDLR gene
40
What is atherosclerosis?
thickening of arterial walls due to lipid deposits = wall loses elasticity over time
41
What are the 2 less common forms of hypercholesterolemia?
high TC and high cholesterol
42
What are 2 effects of mutation of LDLR? (absent vs defective)
completely absent = more severe effects on phenotype | defect = still has LDL-C circulating but not as bad as latter
43
How do plaques in FH form?
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
What can cause injury to endothelium blood vessel walls?
infection, inflammation, smoking, and elevated LDL-C
45
What is angina?
inadequate O2 delivery to heart muscles = exertional chest pain, relieved at rest
46
How does atherosclerosis from FH cause angina and myocardia infarction?
70% plaque buildup in vessel = angina |
47
How does atherosclerosis from FH cause angina and myocardia infarction?
70% plaque buildup in vessel = angina | >70% plaque buildup in vessel = complete blockage = no O2 delivery to heart = MI
48
What are the 4 symptoms associated with FH?
atherosclerosis | xanthomas | xanthelasmata | arcus corneus
49
What is xanthomas?
abnormal growths in the tendons due to cholesterol deposit accumulation at tendons
50
What is TC and LDL-C in hypercholesterolemia?
TC = total serum cholesterol | LDL-C = low-density lipoprotein cholesterol
50
What is xanthelasmata?
cholesterol deposits under skin or eyelids = yellow discoloration
51
What is arcus corneus?
corneal disease due to cholesterol deposits at peripheral border of cornea
52
What are the 5 genes mutated involved in FH?
LDLR ; APOB ; LDLRAP1 ; PSCK9 : I gene
53
What effect does mutation in APOB have on FH?
familial defective apolipoprotein B-100 = LDL-C can’t bind LDL-C to surface receptors
54
What effect does mutation in LDLRAP1 have on FH?
receptors can't transport sequestered LDL-C across membrane
55
Which FH gene mutation is autosomal recessive?
LDLRAP1
56
What kind of mutation does the PSCK9 mutated gene have in FH? What happens?
gain of function | PSCK9 breaks down LDL receptors at a HIGHER rate than normal
57
What kind of mutation does the mutated I gene have in FH? What happens?
loss of function | decreased activity of PCSK9 = decrease LDL receptor degradation = LDL-C can be uptaken into cell
58
What are the 4 screening methods for FH?
family history | pedigree | fasting lipid profile | cascade screening (family tracing)
59
What is the target goal for TC levels in FH?
100 mg/dL
60
What is Marfan's Syndrome?
Connective tissue disorder that affects many organs such as eyes, aorta, skin. Characterized by long bones
61
What is the genetic cause of Marfan's Syndrome?
de novo or inherited mutation in FBN1 gene on chromosome 15
62
What inheritance pattern does Marfan's Syndrome follow?
autosomal dominant
63
What is the percent of Marfan Syndrome cases occurs due to de novo mutation?
25%
64
What is the typical body type of those with Marfan's Syndrome?
tall thin stature with long thin arms and legs
65
What are 5 skeletal atypicalities of Marfan's Syndrome?
arachnodactyly | dolichostenomelia | overcrowded teeth | scoliosis | chest deformities (pectus excavatum or pectus carinatum)
66
What is arachnodactyly?
long slender spiderlike fingers and toes comparison to soles and palms
67
What is dolichostenomelia?
arm span exceeding body height
68
What is pectus excavatum?
chest concaves in
69
What is pectus carinatum?
chest protrudes forward (ie: pigeon's chest)
70
What are 2 ocular defects due to Marfan's Syndrome?
myopia | ectopia lentis
71
What are 2 cardiac abnormalities due to Marfan's Syndrome?
Valve defects (mitral and aortic = most common) | Valvular insufficiency
72
What are 4 symptoms of valvular insufficiency with Marfan's Syndrome?
SOB | fatigue | palpitations | murmurs
73
What are 5 other associated findings with Marfan's Syndrome?
spontaneous pneumothroax | hernias | bullae development in lungs | skin stretch marks | high risk pregnancies
74
What are the 2 things the clinical diagnosis of Marfan Syndrome is made based on?
family history and 4 physical examination findings
75
What 4 physical examination findings does the clinical diagnosis of Marfan's Syndrome is made based on?
dura ectasia | ectopia lentis | aortic dilation/dissection at level of sinuses of Valsalva | 4 of 8 specified skeletal features
76
What is ectopia lentis?
displaced lens
77
What is dura ectasia?
stretching of dural sac in lumbosacral spine
78
What is the normal function of FBN1 gene?
normal protein fibrillin-1 which regulates growth/repair of tissues AND combines with other structural proteins to form microfibrils
79
What are microfibrils?
integral fibers that give strength and flexibility to all connective, load-bearing tissues
80
What is dominant negative mutation?
mutated allele disrupts the function of a normal allele in the same cell
81
How is a mutated FBN1 gene a dominant negative mutation?
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
What is the penetrance % of Marfan's Syndrome?
100%
83
What is genetic heterogeneity?
different gene mutations lead to same/similar phenotype
84
How does Marfan's Syndrome exhibit genetic heterogeneity and variable expressivity?
specific FBN1 mutations are scattered across gene --> combination of mutations will vary in expressivity
85
What is a genocopy?
similar phenotype expression but different genotypes (and different disease)
86
What are the 4 current surveillance recommendations for Marfan syndrome?
family and medical history | annual echocardiograms | molecular genetic testing | linkage analysis
87
What is Fredrickson classification in hyperlipidemia?
Method of determining the phenotype to select the appropriate pharmacotherapeutic agents.
88
What is the relationship between LDL-C and coronary artery disease?
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
For TAAD associated with TGFBR2 mutations what congenital condition can be involved?
bicuspid aortic valve
90
What screening technique is used for any initial screening for TAAD?
CT
91

PASG 60100 Genetics (16 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions