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B2. Cardiovascular System > Genetics of Cardiovascular Disease > Flashcards

Genetics of Cardiovascular Disease Flashcards

1
Q

What are some causes of congenital heart disease?

A

Copy number variation (CNV)

Single nucleotide variation (SNV)

Multifactorial

Teratogens

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2
Q

What does CNV stand for?

A

Copy number variation

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3
Q

What does SNV stand for?

A

Single nucleotide variation

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4
Q

What are examples of copy number variations?

A

Whole chromosome (trisomy, monosomy)

Part of a chromosome (22q11 deletion, Williams)

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5
Q

What is an example of single nucleotide variation?

A

Mendelian disorder (Noonan/CFC, Marfan)

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6
Q

What are examples of teratogens?

A

Rebella

Alcohol

Anti-epileptic drugs

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7
Q

What causes down syndrome?

A

Trisomy 21 (usually due to maternal non-dysjunction)

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8
Q

What percentage of people with down syndrome have atrioventricular septal defects?

A

15%

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9
Q

How does the risk that a pregnancy has down syndrome increase?

A

With maternal age

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10
Q

What does CHD stand for?

A

Coronary heart disease

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11
Q

What causes Turner’s syndrome?

A

45, X (only affects females)

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12
Q

What are some characteristics of Turner’s syndrome?

A

Coarctation of aorta

Short stature

Gonadal dysgenesis

Puffy hands

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13
Q

What is neck webbing?

A

Excess nuchal folds

An indicator of prenatal cardiac difficulties

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14
Q

What is neck webbing an indicator of?

A

Prenatal cardiac difficulties

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15
Q

What genetic diseases is neck webbing present in?

A

Turner’s syndrome

Noonan syndrome

CFC syndrome

Leopard syndrome

Costello syndrome

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16
Q

What are characteristics of Noonan syndrome?

A

Pulmonary stenosis

Short stature

Neck webbing

Cryptochidism

Characteristic face

PTPN 11 gene (chromosome 12)

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17
Q

What does MAPK pathway stand for?

A

Mitogen activated protein kinase pathway

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18
Q

What is the MAPK pathway?

A

Chain of proteins in the cell that communicates a signal from a receptor on the surface of the cell to the DNA in the nucleus

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19
Q

What are characteristics of 22q11 deletion syndrome?

A

Cardiac malformations

Abnormal facies

Thymic hypolasia

Cleft palate

Hypoparathyroidism

22q11 deletion

Encompasses both DiGeorge and Velocardiofacial syndrome

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20
Q

What is 22q11 deletion syndrome a combination of?

A

DiGeorge and Velocardiofacial syndrome

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21
Q

What are characteristics of DiGeorge syndrome?

A

Thymic hypoplasia

Hypoparthyroidism

Outflow tract cardiac malformation

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22
Q

What are characteristics of Velocardiofacial syndrome?

A

Cleft palate

Outflow tract cardiac malformation

Characteristic face

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23
Q

What kind of inheritance does Velocardiofacial syndrome show?

A

Autosomal dominant

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24
Q

What are characteristics of Williams syndrome?

A

Aortic stenosis

Hypercalcaemia

5th finger clinodactyly

Characteristic face

Cocktail party manner

Delection of elastin on chromosome 7

Deletion of contiguous genes

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25
What causes Williams syndrome?
Deletion of elastin on chromosome 7 and contiguous genes
26
What is foetal alcohol syndrome?
Diagnostic term to describe the impacts on the braina dn body of people prenatally exposed to alcohol during pregnancy
27
What is a diagnostic term used to describe the impacts on the braina dn body of people prenatally exposed to alcohol during pregnancy?
Foetal alcohol syndrome
28
What model does multifactorial inheritance use?
Threshold model
29
What are some examples of simple congenital heart diseases?
Lesion Aortic stenosis Patent ductus arteriosus Coarctation Atrial septal defect Ventricular septal defect Pulmonary stenosis Tetralogy of Fallot
30
What is ventricular septal defect associated with?
Folate deficiency
31
What is folate deficiency associated with?
Ventricular septal defect
32
What is folate?
Vitamin B12
33
What are different categories of cardiac genetic disease?
Cardiovascular connective tissue disease Familial arrhythmias Familial cardiomyopathy
34
What are examples of cardiovascular connective tissues diseases that are genetic?
Marfan Loeys-Dietz Ehlers Danlos FTAA
35
What are examples of familial arrhythmias?
Long QT Brugda CPVT
36
What are examples of familial cardiomyopathy?
Hypertrophic cardiomyopathy (HCM) Dilated cardiomyopathy (DCM)
37
What does HCM stand for?
Hypertrophic cardiomyopathy
38
What does DCM stand for?
Dilated cardiomyopathy
39
What kind of inheritance does Marfan syndrome show?
Autosomal dominant
40
What causes Marfan syndrome?
Fibrillin 1 gene which is located chromosome 15q21
41
What does diagnosis of Marfan require?
2 positive findings of the following: Aortic dilation/dissection (cardiovascular) Ectopia lentis (eyes) Systemic score more than or equal to 7 (includes skeletal, skin, respiratory, dural ectasia, mitral valve prolapse and myopia) Family history Fibrillin 1 mutation
42
What do people with Marfan syndrome generally look like?
Tall and thin
43
When should you do a genetic test for Marfan syndrome?
In a suspected case when a positive result would change the diagnosis (such as case with only a single major feature)
44
Explain the biochemistry of Marfan syndrome?
1) TGF beta and fibrillin are both secreted into the extracellular matrix and interact in vitro 2) Incorporation of fibrillin into microfibrils results in the proteolytic release of TGF beta 3) TGF beta signalling affects cell proliferation, differentiation and apoptosis
45
What does TGF beta stand for?
Transforming growth factor beta
46
What is proteolytic?
Breakdown of proteins into smaller polypeptides or amino acids
47
What does the management of Marfan syndrome involve?
Annual clinical reviews which includes: Echocardiogram Beta blockers Angiotensin II receptor blockers Prophylactic aortic surgery if sinus or Valsalva exceeds 5.5cm or 5% frowth per year Monitor aortic root frequently in pregnancy if diameter exceeds 4cm
48
What are examples of Marfan like syndromes?
Loeys'diets syndrome Familial thoracic aortic aneurysm MASS phenotype
49
What are characteristics of Loeys-diets syndrome?
Arterial dissection Tortuosity Hypertelorism Skin and skeletal findings
50
What are characteristics of MASS phenotype?
Myopia Mitral valve prolapse Mild aortic dilation Striae Minor skeletal involvement
51
What is sudden unexpected death syndrome?
Sudden arrhythmic death of adults or children, usually during sleep
52
What age group usually die from sudden unexpected death syndrome?
Beteen 1 year and 40 years
53
What are the typical causes of sudden unexpected death syndrome?
Arrthymic Inherited heart disease Ion channelopathy (most are long QT syndrome)
54
What is long QT syndrome?
Condition that affects repolarisation of the heart after a beat
55
56
What are symptoms of long QT syndrome?
Syncope Seizure Sudden death
57
What are exacerbating factors for long QT syndrome?
Emotion Exercise Drugs
58
What does the ECG for long QT syndrome show?
Prolonged QT interval Repolarisation anomalies (T/U waves)
59
What are some mutations that suggest precipitants of arrhythmia?
KCNQ1 KCNH2 SCN5A
60
What is the precipitant of arrhythmia for KCNQ1 mutation?
Exercise
61
What is the precipitant of arrhythmia for KCNH2 mutation?
Noise/arousal
62
What is the precipitant of arrhythmia for SCN5A mutation?
Sleep/bradycardia
63
What is Brugada syndrome?
Condition that disrupts normal rhythm of the heart
64
What are the different types of Brugada syndrome?
Type 1 Type 2 Type 3
65
What is seen in Brugada syndrome?
Prolonged PR interval Enlarge left ventricle
66
Who usually suffers from Brugada syndrome?
Young men, especially of far Eastern origin
67
What mutation if Brugada syndrome due to?
SCN5A and 11 other genes
68
What is the management of Brugada syndrome?
Avoid fever, excess alcohol and overeatin Implantable cardioverter defibrillator (ICD)
69
What does AVC stand for?
Atrioventricular canal defect
70
What is atrioventricular canal defect?
Hole between the chambers of the heart
71
What is atrioventricular canal defect diagnosed by?
Echocardiogram or MRI
72
What does the ECG for atrioventricular canal defect show?
Epsilon waves T wave inversion
73
What does histology for atrioventricular canal defect show?
Fatty infiltration of right ventricle
74
What is hypertrophic cardiomyopathy?
Heart muscles (myocardium) becomes abnormally thick
75
What is it called when the heart muscles (myocardium) becomes abnormally thick?
Hypertrophic cardiomyopathy
76
What is the prevalence of hypertrophic cardiomyopathy?
1/500
77
What is the presentation of hypertrophic cardiomyopathy?
Variable
78
What is the mortality of hypertrophic cardiomyopathy?
6% per year diagnosed in childhood 2. 5% per year diagnosed in adult life 0. 5% per year diagnosed in screening
79
What is dilated cardiomyopathy?
Heart becomes enlarged and cannot pump blood effectively
80
What is it called when the heart becomes enlarged and cannot pump blood effectively?
Dilated cardiomyopathy
81
What should be done before diagnosing dilated cardiomyopathy?
Exclude: Ischaemic heart disease (angiography) Hypertension Skeletal muscle disease (neurology/genetic evaluation) Alcohol abuse (history and biochemical evidence) Exposure to cardiotoxic (history) Haemochromatosis
82
What may genetic testing for dilated cardiomyopathy include?
Titin LMNA SCN5A Dystrophin Sarcomere genes
83
What is the largest gene in the genome?
Titan with 363 exons and 38138 amino acids
84
What are different kinds of genetic sequencing?
Sanger sequencing Next generation sequencing (can read many genes at once)
85
What is the difference between Sanger and next generation sequencing?
Next generation sequencing can read many genes at once
86
What is genomics?
Branch of molecular biology concerned with the structure, function evolution and mapping of genomes
87
What is the branch of molecular biology converned with the structure, function, evolution and mapping of genomes?
Genomics
88
What is genetic cardiology conditions diagnosed by?
Cardiac phenotype and genetic history Family history

B2. Cardiovascular System (41 decks)

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