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Clinical Science > Genetics of Cardiovascular and Hematologic Disease > Flashcards

Genetics of Cardiovascular and Hematologic Disease Flashcards

1
Q

What are the two pathways associated with the coagulation cascade?

A
  • intrinsic pathway
  • extrinsic pathway
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2
Q

The activation of what factor initiates the first step of the common pathway of the coagulation cascade?

A

factor X

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3
Q

What allows you to stop bleeding by forming clots?

A

fibrin

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4
Q

What is a bleeding disorder that has a combined incidence of 1 in 5000 males?

A

hemophilia

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5
Q

Hemophilia is caused by a mutation of what?

A

on the F8 or F9 genes on the X chromosome

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6
Q

Hemophilia A and B are what type of disorders?

A

X-linked recessive disorders

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7
Q

1/3 of hemophilia patients do not have a family history of this disease, so they are what type of mutations?

A

do novo mutations

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8
Q

Who is usually affected in hemophilia?

A

males

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9
Q

Will affected fathers with hemophilia ever pass the disease to their sons?

A

No

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10
Q

Hemophilia A is a disorder due to mutations on which gene?

A

F8 (factor 8)

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11
Q

Hemophilia A has a deficiency with which clotting factor?

A

Factor VIII

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12
Q

What type of hemophilia is considered the “classic” hemophilia and is the most common?

A

Hemophilia A

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13
Q

Which Hemophilia is also named the “Christmas disease”?

A

Hemophilia B

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14
Q

Hemophilia B is associated with mutations on which gene?

A

F9 gene (factor 9)

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15
Q

Hemophilia B has a deficiency with which clotting factor?

A

factor IX

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16
Q

Which hemophilia is considered the “Christmas disease” and is less common than the other?

A

Hemophilia B

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17
Q

Hemophilia A and B are clinically indistinguishable, what does this mean?

A

both will present the same way

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18
Q

Who can manifest mild symptoms of Hemophilia or may have more classic symptoms?

A

female carriers

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19
Q

What are some possible explanations as to why female carriers of hemophilia may manifest mild symptoms or have more classic symptoms?

A
  1. X-chromosome inactivation during embryogenesis
  2. mating between an affected male and carrier female
  3. an abnormal karyotype resulting in loss of all or part of one chromosome (turner syndrome)
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20
Q

Most children with hemophilia become symptomatic by age (1) and are typically diagnosed by age (2)?

A
  1. 2
  2. 6
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21
Q

If there is so trauma or witnessed bleeding at birth, what can be missed with newborns?

A

hemophilia diagnosis

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22
Q

Newborns with what disease can present with:
- intracranial hemorrhage
- seizures
- increased bleeding with circumcision

A

Hemophilia

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23
Q

What are these manifestations associated with:
- excessive bleeding as result of injury or surgical procedure
- excessive bruising
- skin hematomas
- joint hemarthrosis
- knees, ankles, and elbows commonly affected

A

hemophilia

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24
Q

What are these ENT manifestations associated with:
- nose epistaxis (bloody nose)
- bleeding from posterior pharynx after coughing
- hematochezia
- hematuria
- menorrhagia

A

Hemophilia

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25
Q

What is the term for blood in stool?

A

hematochezia

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26
Q

What is the term for blood in urine?

A

hematuria

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27
Q

What is the term for a heavier menstrual cycle?

A

menorrhagia

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28
Q

What can be used to diagnose hemophilia A and B?

A

specific coagulation factor assays and genetic testing

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29
Q

What is a bleeding disorder associated with hemophilia?

A

hemophilia C

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30
Q

Hemophilia C is a disease with a deficiency with what clotting factor?

A

factor XI

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31
Q

What is the inheritance pattern for hemophilia C?

A

autosomal recessive

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32
Q

What is a large glycoprotein with several functions and is involved in platelet adhesion to the sub-endothelium?

A

Von Willebrand factor

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33
Q

What acts as a “bridge” between platelets and the injured sub-endothelium (brings them together)?

A

Von Willebrand factor

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34
Q

What binds to the Von Willebrand factor?

A

receptors in platelets

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35
Q

Von Willebrand factor acts as a carrier for which factor in circulation?

A

factor VIII

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36
Q

Von Willebrand factor increases factor 8’s half-life by?

A

five-fold

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37
Q

Factor VIII levels are low in Von Willebrand factor which results in what?

A

reduced clotting potential

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38
Q

What is the most common inherited bleeding disorder?

A

Von Willebrand disease

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39
Q

What gene is associated with Von Willebrand disease?

A

VWF gene

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40
Q

Most people with Von Willebrand disease are what?

A

asymptomatic

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41
Q

What is the inheritance pattern associated with Von Willebrand Disease?

A

mostly autosomal dominant with variable penetrance

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42
Q

What can follow an autosomal recessive pattern but is less common and causes more severe symptoms in this form?

A

Von Willebrand Disease

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43
Q

How many types of Von Willebrand disease classifications are there?

A

3:
- type 1, 2 and 3

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44
Q

What is the defect associated with type 1 Von Willebrand disease?

A

quantitative defect; not enough VWF

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45
Q

What is the defect associated with type 2 Von Willebrand disease?

A

qualitative disease; dysfunctional VWF

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46
Q

What is the defect associated with type 3 Von Willebrand disease?

A

profound quantitative defect; total or near absence of VWF

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47
Q

What is the inheritance of type 1 Von Willebrand disease?

A

autosomal dominant

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48
Q

What is the inheritance of type 2 Von Willebrand disease?

A

autosomal dominant (common)
autosomal recessive (uncommon)

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49
Q

What is the inheritance of type 3 Von Willebrand disease?

A

autosomal recessive

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50
Q

What type of Von Willebrand disease is associated with barely any bleeding and is the most mild?

A

type 1

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51
Q

What type of Von Willebrand disease is associated with moderate to severe bleeding?

A

type 2

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52
Q

What type of Von Willebrand disease is associated with severe bleeding and is clinically similar to hemophilia A?

A

type 3

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53
Q

What are some clinical bleeding symptoms associated with type 1 Von Willebrand disease?

A
  • epistaxis
  • postoperative bleeding
  • gastrointestinal bleeding
  • ecchymosis and hematomas (brusing)
  • joint bleeding
  • menorrhagia, hematuria, postpartum bleeding
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54
Q

Sickle cell anemia is more common with ancestry connected to?

A

sub-Saharan Africa (african americans)

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55
Q

Sickle cell anemia is associated with mutations on what gene?

A

HBB gene for hemoglobin

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56
Q

Sickle cell anemia is what type of substitution at the 6th codon?

A

single substitution

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57
Q

The single substitution on the 6th codon in sickle cell anemia results in what?

A

sickled hemoglobin

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58
Q

Who requires newborn screening for sickle cell anemia?

A

all states

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59
Q

Normal hemoglobin in adults is comprised of what?

A
  • two alpha polypeptide chains
  • two beta polypeptide chains
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60
Q

Within each chain of hemoglobin, what is there?

A

a heme group which contains iron

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61
Q

Hemoglobin is responsible for what?

A

oxygen transport

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62
Q

When you lose hemoglobin, what else do you lose?

A

iron

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63
Q

If an older individual is suddenly anemic, what should you check for?

A

colorectal cancer; they’re suddenly losing hemoglobin and iron

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64
Q

Normal hemoglobin is very (1) and (2), but HgbS (sickle) is not

A
  1. pliable
  2. deformable
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65
Q

How do sickled cells flow?

A

they do not flow freely and lead to pain and vaso-occlusive infarction of organs

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66
Q

Sickled cells get what?

A

stuck places

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67
Q

How is sickle cell anemia inherited?

A

autosomal recessive pattern

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68
Q

Heterozygous individuals are carriers of sickle cell anemia and are referred to as having what?

A

the sickle cell trait

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69
Q

What has been found to provide a 60% protection against malaria?
- most of the benefit occurs before age 16
- higher frequency of carries are in malaria regions

A

Sickle cell anemia

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70
Q

Mice that were genetically engineered to be sickle cell carriers were protected against what?

A

cerebral malaria

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71
Q

The protective effect of the sickle cell train occurs why?

A

because sickled hemoglobin is a strong inducer of heme-oxygenase 1 (HO-1)

72
Q

What produces the gas carbon dioxide which protects host from cerebral malaria without interfering with malaria parasites in RBCs?

A

Heme-oxygenase

73
Q

What can lead to severe neurologic complications such as:
- neurocognitive impairments
- coma
- death

A

cerebral malaria

74
Q

Manifestations of sickle cell anemia occur due to what?

A

hemolysis and vasoocclusion

75
Q

What are these manifestations in infants and children associated with:
- failure to thrive
- anemia
- splenomegaly (enlarged spleen)
- multiple infections
- swelling of extremities from vasoocclusion

A

Sickle cell anemia

76
Q

What are these manifestations associated with?
- chronic anemia from RBC destruction
- jaundice and scleral icterus
- aplastic crisis

A

sickle cell anemia

77
Q

What results in tissue ischemia?

A

chronic anemia

78
Q

What is due to the cessation of RBC production and is often results from acute infection (shut down factory for RBC production)?

A

Aplastic crisis

79
Q

What is the biggest complaint associated with sickle cell anemia?

A

chest pain

80
Q

Acute chest syndrome is associated with?

A

sickle cell anemia

81
Q

What are these associated with:
- fever
- chest pain
- tachypnea
- wheezing
- cough
- changes on chest imaging

A

acute chest syndrome of sickle cell anemia

82
Q

What are these manifestations associated with:
- severe abdominal pain
- stroke
- renal necrosis
- leg ulcers
- priapism (sustained erection)
- vision loss due to infarction

A

sickle cell anemia

83
Q

What type of testing is used for sickle cell anemia?

A
  • prenatal testing through amniocentesis
  • hemoglobin electrophoresis
84
Q

What is high cholesterol known as?

A

hypercholesterolemia, dyslipidemia, or hyperlipidemia

85
Q

What can uncontrolled high cholesterol lead to?

A
  • atherosclerosis
  • myocardial infarction
  • sudden cardiac death
86
Q

To reduce the risk of heart disease, we regularly monitor lipid panels, which includes what?

A
  • total cholesterol
  • triglycerides
  • high-density lipoprotein (good)
  • low-density lipoprotein (bad)
87
Q

The majority of dyslipidemia is?

A

polygenic in origin (polygenic high cholesterol)

88
Q

What disease is a strictly inherited form of high cholesterol and is less common than polygenic cases?

A

familial hypercholesterolemia

89
Q

Familial hypercholesterolemia is due to mutations on which gene specifically?

A

LDLR

90
Q

What is the inheritance pattern of familial hypercholesterolemia?

A

Either AD or AR depending on the variant

91
Q

What acts as a carrier for cholesterol, which is needed for many metabolic functions?

A

LDL

92
Q

Cells require LDL for use through their what?

A

LDL receptors

93
Q

What do normal LDL receptors do?

A

remove LDL from circulation and “give” it to the cell

94
Q

What encodes for a protein on the LDL receptor?

A

LDLR gene

95
Q

In familial hypercholesterolemia, what is wrong with the LDL receptors?

A

they are either defective or completely absent
- if completely absent, the disease will be very serious

96
Q

If the LDLR gene is defective, what can happen to LDL levels?

A

they can be 2-8 times higher than normal

97
Q

What disease poses a very high risk of coronary heart disease from atherosclerosis (can result in angina and MI)?

A

familial hypercholesterolemia

98
Q

What medications are used to reduce atherosclerosis in familial hypercholesterolemia?

A

cholesterol medication “statins”

99
Q

What is tendon xanthomas associated with?

A

familial hypercholesterolemia

100
Q

What are cholesterol deposits in tendons called?

A

tendon xanthomas

101
Q

What is xanthelasma associated with?

A

familial hypercholesterolemia

102
Q

What are yellow, cholesterol build-up growths that appear around the eyes called?

A

xanthelasma

103
Q

Atherosclerosis, tendon xanthomas, and xanthelasma are all associated with what?

A

familial hypercholesterolemia

104
Q

It is recommended that individuals should be screened for familial hypercholesterolemia if?

A
  • family member presents with FH
  • plasma total cholesterol level in adult is greater than 310 in an adult or 230 in a child
  • premature CHD or sudden cardiac death
  • tendon xanthomas
105
Q

What is a disorder of the connective tissue of multiple systems such as:
- eyes
- aorta
- skin
- long bones

A

marfan syndrome

106
Q

What is one of the most common disorders of connective tissue?

A

Marfan syndrome

107
Q

Marfan syndrome has no predilection of what?

A

race, ethnicity, or gender

108
Q

What is the gene associated with Marfan syndrome?

A

FBN1 (fibrillin-1 gene)

109
Q

What is the inheritance pattern of Marfan syndrome?

A

autosomal dominant

110
Q

75% of Marfan syndrome cases are ______

A

inherited

111
Q

25% of Marfan syndrome cases are due to what?

A

do novo mutations

112
Q

What varies between affected individuals with Marfan syndrome?

A

expression

113
Q

What is the function of the FBN1 gene?

A

encodes for glycoprotein fibrillin

114
Q

What is the principal component of microfibril which is part of the structure of collagen?

A

microfibril

115
Q

What does collagen provide?

A
  • elasticity
  • stability
  • strength
116
Q

Where in the body are microfibrils particularly abundant?

A
  • aorta
  • periosteum
  • alveolar walls
  • skin
117
Q

Patients with Marfan’s have abnormally functioning fibrillin, so their connective tissues will become overly _____

A

elastic

118
Q

What is the main cause of morbidity and morality in Marfan syndrome?

A

aortic dissection

119
Q

What manifests as aortic aneurysms, aortic regurgitation, and aortic dissection?

A

Marfan syndrome

120
Q

Dilation of the aorta in Marfan pts is found in who?

A
  • 50% children
  • 60-80% adults
  • progressively worsens with time/age
121
Q

Because aortic dissections in pts with Marfan syndrome has such a high fatality rate, what should be done at diagnosis and at regular intervals?

A

echocardiograms (cardiac ultrasounds)

122
Q

What are these skeletal abnormalities associated with:
- excessive linear bone growth with joint laxity (tall with long arms)
- arachnodactyly (spider fingers)
- dolichostenomelia (arm span>body height)

A

Marfan syndrome

123
Q

What is dolichostenomelia?

A

arm span>body height

124
Q

Positive thumb sign and positive wrist sign is associated with?

A

Marfan syndrome

125
Q

What is pectus carinatum?

A

pigeon chest (chest sticks out)

126
Q

What is pectus carinatum associated with?

A

Marfan syndrome

127
Q

What is pectus excavatum?

A

funnel chest (chest folds inwards)

128
Q

What is pectus excavatum associated with?

A

Marfan syndrome

129
Q

What is hindfoot valgus?

A

“too many toes” sign; ankle and foot curves inward allowing you to see many toes on the lateral side of the legs

130
Q

What is hindfoot valgus associated with?

A

Marfan syndrome

131
Q

What is pes planus?

A

flat foot

132
Q

What is pes planus associated with?

A

Marfan syndrome

133
Q

What are these spine abnormalities associated with:
- paradoxical reduced joint mobility of elbows and digits
- scoliosis
- kyphosis

A

Marfan syndrome

134
Q

What are these eye abnormalities associated with:
- dislocated lens (ectopia lentis)
- myopia (nearsightedness)

A

Marfan syndrome

135
Q

What are these manifestations associated with:
- spontaneous pneumothorax
- skin striae (stretch marks)
- recurrent incisional hernias

A

Marfan syndrome

136
Q

How is Marfan syndrome diagnosed?

A
  • Ghent criteria and family history
  • genetic testing to confirm diagnosis
137
Q

What can occur in any portion of the aorta and is defined as having >50% increase in the expected diameter for that portion of the aorta?

A

aortic aneurysm (widened aorta)

138
Q

What percentage of aortic aneurysms are sporadic?

A

80%

139
Q

What are the risk factors associated with aortic aneurysms?

A
  • hypertension
  • smoking
  • hypercholesterolemia
140
Q

What percentage of aortic aneurysms are related to genetics and can be related to Marfan syndrome familial thoracic aortic aneurysm?

A

20%

141
Q

What is the inheritance pattern of familial thoracic aortic aneurysms (familial TAA)?

A

autosomal dominant with variable expression

142
Q

In familial TAA, how many genes are are linked and identified on 4 separate chromosomes?

A

4

143
Q

In familial TAA, what part of the aorta is involved 80% of the time?

A

ascending aorta

144
Q

What is the average age of onset of aneurysm dissection in pts with Marfan syndrome?

A

38 years

145
Q

What is the average age of onset of aneurysm dissection in pts with familial TAA?

A

56 years

146
Q

What is the average age of onset of aneurysm dissection in pts with sporadic aneurysm?

A

64 years

147
Q

What is the mortality rate of aortic dissection?

A

1-2% per hour (same as in the 1950s, haven’t been able to figure this out)

148
Q

Aneurysms that produce symptoms are usually large and dangerous, so pts can present with what symptoms?

A
  • chest pain
  • upper band and/or left shoulder pain
  • hypertension, shock if severe
149
Q

Most patients that have aortic aneurysms are ________

A

asymptomatic until they begin to dissect

150
Q

What are the four “P’s” associated with aortic aneurysms/dissections?

A
  1. Pallor (pt appears pale)
  2. Pulseless (blood not perfusing well)
  3. Paresthesia (lack sensation in extremities)
  4. Paralysis (unable to move one or several extremities)
151
Q

What should you ask yourself if a pt presents with symptoms that may be related to aortic aneurysms?

A
  1. does the pt’s family have a history of aortic dissection?
  2. does the patient have Marfan syndrome?
  3. do physical findings suggest the patient may have undiagnosed Marfan syndrome?
152
Q

What tests are available for diagnosis of familial TAA?

A
  • genetic testing
  • screening of all first-degree relatives in FTAA
153
Q

What should be known prior to pregnancy due to high-risk of dissection and rupture in pregnant women?

A

if the pregnant mother has familial TAA

154
Q

Cardiomyopathies are a heterogenous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually exhibits inappropriate ___________ and are due to ____________

A
  1. ventricular hypertrophy or dilation
  2. variety of causes that frequently are genetic
155
Q

What are the leading cause of sudden cardiac death in athletes, even young athletes?

A

hereditary cardiomyopathies

156
Q

What helps detect cardiomyopathy abnormalities?

A

sports physicals

157
Q

What should you pay attention to in pts with hereditary cardiomyopathy?

A
  • murmurs
  • pay attention to symptomatology and family history of sudden cardiac death
158
Q

What are the different types of cardiomyopathies?

A
  • dilated cardiomyopathy
  • hypertrophic cardiomyopathy
  • arrhythmogenic cardiomyopathy
  • restrictive cardiomyopathy
159
Q

What is the dilation of at least one of the ventricles of the heart which results in impaired contraction of one or both ventricles?

A

dilated cardiomyopathy

160
Q

What occurs when the ventricular myocardium of the left ventricle becomes thickened and doesn’t fill all the way?

A

hypertrophic cardiomyopathy

161
Q

What occurs when the ventricular myocardium of the right ventricle is replaced with fibrofatty scare tissue so the nodes are affected and will have abnormal heart rhythms?

A

arrhythmogenic cardiomyopathy

162
Q

What is the stiffening and rigidity of both ventricles due to the replacement of normal myocardium by scar tissue but there is NO hypertrophy of the ventricle?

A

restrictive cardiomyopathy

163
Q

Left ventricular abnormality is associated with what?

A

hypertrophic cardiomyopathy

164
Q

Hypertrophic cardiomyopathy is associated with genetic mutations of what?

A

sarcomere genes

165
Q

Hypertrophic cardiomyopathy has what type of inheritance pattern?

A

usually autosomal dominant but de novo mutations can occur

166
Q

Right ventricular abnormality is associated with what?

A

arrhythmogenic right ventricular dysplasia/cardiomyopathy

167
Q

Eight genes are known to be associated with what can can affect desmosome (aid in cell adhesion)?

A

arrhythmogenic right ventricular dysplasia/cardiomyopathy

168
Q

Arrhythmogenic right ventricular dysplasia/cardiomyopathy has what type of inheritance pattern?

A

usually autosomal dominant

169
Q

What are the two most common forms of hereditary cardiomyopathies?

A
  • hypertrophic cardiomyopathy
  • arrhythmogenic right ventricular dysplasia/cardiomyopathy
170
Q

Dyspnea on exertion is associated with what?

A

hypertrophic cardiomyopathy

171
Q

Arrhythmias (abnormal heart rhythms) are clinical manifestations of what?

A

arrhythmogenic right ventricular dysplasia/cardiomyopathy

172
Q

What are these clinical manifestations associated with:
- chest pain
- palpitations
- syncope (passing out when they exert themselves)

A
  • hypertrophic cardiomyopathy
  • arrhythmogenic right ventricular dysplasia/cardiomyopathy
173
Q

Hereditary cardiomyopathy has multiple genes involved, particularly those that affect?

A

sarcomere function

174
Q

Hypertrophic cardiomyopathy has what type of inheritance pattern?

A

autosomal dominant

175
Q

Dilated cardiomyopathy is inherited in what manner?

A

AD or AR

176
Q

Hereditary cardiomyopathy can have what type of penetrance?

A

incomplete penetrance

177
Q

What should you consider in a young person or athlete with syncope especially during sports/exertion or pronounced chest pain with exertion?

A

hereditary cardiomyopathy

Clinical Science (18 decks)

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