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2. Cardiovascular System > 34. Genetics and Cardiovascular Disease > Flashcards

34. Genetics and Cardiovascular Disease Flashcards

1
Q

What are the causes for congenital heart disease? (6)

A
  1. chromosomal
  2. microdeletions
  3. single gene
  4. teratogens
  5. multifactorial
  6. other
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2
Q

What are examples of chromosomal conditions? (2)

A
  1. trisomies

2. monosomies

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3
Q

What are examples of microdeletions? (2)

A
  1. 22q11 deletion

2. William’s syndrome

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4
Q

What are examples of single gene congetial heart conditions? (6)

A
  1. Noonan/CFC
  2. Marfan’s
  3. SVAS
  4. Holt-Oram
  5. Fanconi
  6. CHARGE
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5
Q

What are examples of teratogens that cause heart conditions?

A
  1. rubella
  2. alcohol
  3. anti-epileptic drugs
  4. maternal DM
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6
Q

What is an example of “other” causes that cause heart conditions?

A

VACTERL

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7
Q

What is an example of multifactorial cause that lead to heart conditions?

A

Isolated congenital diaphragmatic hernia (CHD)

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8
Q

What kind of gene mutation is Down’s Syndrome?

A

Trisomy 21

95% maternal non-disjunction, 2% translocation and 2% mosaic

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9
Q

What do 15% Down’s Syndrome patients have?

A

atri-ventricular septal defects

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10
Q

Except from AV septal defects, what other condition do Down’s Syndrome patients often have?

A

Duodenal atresia

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11
Q

What is seen on an ultrasound in Down’s Syndrome babies that isn’t seen in healthy babies?

A

Nuchal translucency is bigger than in healthy babies ( collection of fluid under baby’s skin at the back of the neck)

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12
Q

What percent of fetuses with congenital heart disease have abnormal chromosomes?

A

19%; chromosome abnormality more common in foetuses in congenital heart disease

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13
Q

What is seen on an ultrasound that suggests a chromosomal abnormality?

A

cystic hygroma: lymphatic lesion

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14
Q

What percent of newborns with congenital heart disease have abnormal chromosomes?

A

13%

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15
Q

What kind of gene mutation is Turner’s Syndrome?

A
  • 45, X
  • 30% mosaic
  • 5% 45 X/46XY
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16
Q

What is meant by mosaic?

A

Presence of two or more populations of cells with different genotypes in one individual who has developed from a single fertilised egg

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17
Q

What are the features of Turner’s Syndrome? (5)

A
  • coarctation of the aorta
  • short stature
  • gonadal(ovarian) dysgenesis
  • puffy hands
  • infertility
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18
Q

What congenital condition causes neck webbing?

A

Noonan syndrome

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19
Q

What is neck webbing?

A
  • excess nuchal folds

- seen in many congenital conditions

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20
Q

What are common features of Noonan Syndrome? (7)

A
  • pulmonary stenosis
  • short stature
  • neck webbing
  • cryptorchidism (absence of 1 or both testes from scrotum)
  • characteristic face
  • PTPN11 gene (chromosome 12) mutation
  • autosomal dominant
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21
Q

What congenital conditions (syndromes) are associated with neck webbing? (5)

A
  1. Turner’s syndrome
  2. Noonan Syndrome
  3. CFC syndrome
  4. Leopard Syndrome
  5. Costello syndrome
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22
Q

What are features of CNC (cardiofaciocutaneous) syndrome? (3)

A
  • Noonan-like
  • ectodermal problems
  • developmental delay
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23
Q

What are features of Leopard syndrome? (3)

A
  • Noonan-like
  • multiple lentigenes
  • deafness
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24
Q

What are features of Costello syndrome? (5)

A
  • Noonan-like
  • thickened skin folds
  • susceptible to warts
  • cardiomyopathy
  • later cancer risk
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25
Q

What do Noonan, CFC, Leopard, Costello and Turner’s syndrome all have in common? (2)

A
  • All have changes to their genes in the same pathway (which can lead to neck webbing)
  • All can be tested at the same time
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26
Q

Can Noonan, CFC, Costello, Turner’s and Leopard syndromes affect both genders?

A

All of them can EXCEPT Turner’s (which is only females)

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27
Q

What pathway do Noonan, Leopard, CFC, Turner’s and Costello syndromes all have in common?

A

MAPK (Mitogen activated protein kinase) pathway

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28
Q

What are the features of 22q11 deletion syndrome? (CATCH 22)

A 
C=cardiac malformation
A= abnormal faces 
T= thymic hypoplasia (underdeveloped thymus) 
C= cleft palate 
H= hypoparathyroidism 
22=22q11 deletion
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29
Q

What 2 systems are generally affected by the 22q11 deletion syndrome?

A
  1. renal

2. psychiatric

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30
Q

22q11 deletion syndrome is a mixture of which two other syndromes?

A
  1. DiGeorge syndrome

2. Shprintzen Syndrome

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31
Q

What are the features of DiGeorge Syndrome? (4)

A
  1. thymic hypoplasia
  2. hypoparathyroidism
  3. outflow tract cardiac malformation
  4. usually sporadic (irregular)
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32
Q

What are the features of Shprintzen Syndrome? (4)

A
  1. cleft palate/ palatal insufficiency
  2. outflow tract cardiac malformation
  3. characteristic face
  4. autosomal dominant
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33
Q

What is common in 22q11 deletion syndrome?

A
  • speech delay/ palatal dysfunction common
  • variable disorder (can appear differently from patient to patient)
  • low frequency (~1-2%) in unselected congenital heart disease
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34
Q

When to test for 22q11 deletion syndrome?

A

If patient has 2 or more features present (continue to look for additional clinical features)

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35
Q

Is 22q11 deletion syndrome familial?

A

Not necessarily, only ~25% is familial

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36
Q

What psychiatric effect does 22q11 deletion syndrome have?

A

22% of adult patients with 22q11 deletion have schizophrenia, 13% are bipolar and 2.5% have depression

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37
Q

What facial features are common in 22q11 deletion syndrome?

A
  • small mouth
  • floppy ears
  • assymetric “crying” face
  • long fingers and face (which become longer with age)
  • bulbous nasal tips
  • long nose
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38
Q

Why is 22q11 deletion a genomic condition?

A
  • on the region of 22, part of the gene sequence is skipped (deletion) and keeps recurring along the DNA strand
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39
Q

What are features of William’s Syndrome?

A
  1. aortic stenosis (supravalvar)
  2. hypercalcaemia
  3. 5th finger clinodactyly
  4. characteristic face
  5. cocktail party manner
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40
Q

What genetic mutations occur in William’s syndrome?

A
  • deletion of elastin on chromosome 7

- deletion of contiguous (next to each other) genes (LIM kinase)

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41
Q

How many units of alcohol per week can cause foetal alcohol syndrome?

A

3-5 units per week

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42
Q

What does foetal alcohol syndrome cause?

A
  1. intra-uterine growth restriction, growth retardation (IUGR)< 10th centile
  2. head<10th centile
  3. face
  4. ADHD
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43
Q

What are the most common teratogens?

A
  1. foetal alcohol syndrome
  2. antiepileptic drugs
  3. rubella
  4. maternal diabetes (mellitus in the mother)
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44
Q

Define teratogen.

A

Agent that causes malformation of the embryo

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45
Q

What pathway is affected by teratogens such as alcohol or antiepileptic drugs?

A

methylation system/ pathway (which produces an irregular gene pattern)

46
Q

What anti-epileptic drugs can cause foetal anticonvulsant syndromes? (3)

A
  1. valproate
  2. phenytoin
  3. carbamazepine
47
Q

What are the features of foetal anticonvulsant syndromes? (3)

A
  1. characteristic faces
  2. malformation patterns
  3. developmental delay
48
Q

What are the most common congenital heart disease that child is more likely to get if mother has it? (7)

A
  1. aortic stenosis
  2. patent ductus arteriosus
  3. cardiac anomaly
  4. atrial septal defect
  5. ventricular septal defect
  6. pulmonary stenosis
  7. tetralogy of Fallot
49
Q

What is ventricular septal defect associated with?

A

folate deficiency (low folic acid intake)

50
Q

What are common genetic cardiac connective tissue disease? (4)

A
  1. Marfan’s
  2. Loeys- Dietz
  3. Ehlers Danlos
  4. FTAA (familial thoracic aortic aneurysm)
51
Q

What are common genetic cardiac familial arrhythmias? (4)

A
  1. long QT
  2. Brugada syndrome (dangerous heart rhythms)
  3. CPVT
  4. ARVC
52
Q

What are common genetic cardiac familial cardiomyopathies? (2)

A
  1. hypertrophic cardiomyopathy

2. dilated cardiomyopathy

53
Q

What type of gene mutation is Marfan’s? (2)

A
  • Fibrillin 1 gene on chromosome 15q21 affected
  • TGFBR2 and 1 gene on chromosome 3p22 (9q33) affected
  • autosomal dominant
54
Q

What systems and tissue type does Marfan’s affect?

A

Multisystem (many systems); affects connective tissue

55
Q

What effect does Marfan’s have on the cardiovascular system? (2)

A
  1. aortic dilatation

2. aortic dissection

56
Q

What effect does Marfan’s hae on the eyes? (1)

A
  1. ectopia lentis (malposition of the eye’s lens, lens flip out of place)
57
Q

What effect does Marfan’s have on the other body systems? (6)

A
  1. skeletal
  2. skin
  3. respiratory
  4. dural ectasia
  5. mitral valve prolapse
  6. myopia (short-sighted)
58
Q

What mutation is most commonly associated with Marfan’s?

A

Fibrillin 1 mutation

59
Q

What family history can give an indication of Marfan’s?

A

unequivocally affected relative (e.g. father)

60
Q

According to Ghent 2010 guidelines, what 5 things must be true to diagnose a patient with Marfan’s? (5)

A
  1. cardiovascular (effect)
  2. eyes (effect)
  3. family history
  4. Fibrillin 1 mutation
  5. Systemic score >=7
61
Q

What skeletal features in the Systemic Score consideration are present in Marfan’s? (6)

A
  1. ULSR and SHR (tall, thin and arm span>height)
  2. Scoliosis/kyphosis
  3. pectus deformity
  4. thumb and wrist
  5. foot/ankle
  6. reduced elbow expansion <170 degrees
62
Q

What other features in the Systemic Score consideration are present in Marfan’s? (6)

A
  1. Myopia> 3 dioptres (short sighted)
  2. MVP
  3. pneumothoraz
  4. dura
  5. striae
  6. face
  7. protrusio acetabuli (hip)
63
Q

What investigations should be done for suspected Marfan’s?

A
  1. echocardiography
  2. MRI of lumbar spine
  3. Pelvic X ray
  4. chest x ray
64
Q

Why is echo used for Marfan’s?

A
  • mandatory
  • assessing aortic root diameter at sinus of Valsalva
  • reason for murmur can be clarified
65
Q

Why is MRI of lumbar spine used for Marfan’s?

A
  • may show dural ectasia (from Ghent’s diagnosis criteria)
66
Q

Why is pelvic x ray used for Marfan’s?

A
  • to check for protrusio acetabuli
67
Q

Why is chest x ray used for Marfan’s?

A
  • apical blebs might be seen
68
Q

What are the most common Marfan’s features appearing from childhood into adulthood but NOT all at once? (9)

A
  1. tall stature
  2. pes plenus (arches of feet collapse)
  3. pectus deformity
  4. scoliosis
  5. face/palate
  6. myopia
  7. ectopia lentis
  8. aortic
  9. striae (stretch marks)
69
Q

What signalling pathway is treated in Marfan’s syndrome?

A

TGFBeta pathway (excess TGFBeta present in Marfan’s)

70
Q

What happens to levels of TGFBeta and Fibrillin in Marfan’s?

A

TGDBeta= increases

Fibrillin 1 = decreases (deficiency)

71
Q

What are Marfan like syndromes? (4)

A
  1. Loeys- Dietz Syndrome
  2. Marfan Syndrome type 2 (non-ocular)
  3. Familial Thoracic Aortic Aneurysm
  4. MASS phenotype
72
Q

What are features of Loeys-Dietz syndrome which is Marfan-like? (5)

A
  • arterial dissection
  • turtuosity (misshapen aorta)
  • bifid uvula/cleft palate
  • hypertelorism (increased distance between eyes)
  • skin and skeletal findings
73
Q

What are features of MASS pheonotype which is Marfan- like? (5)

A
  • myopia (short sighted)
  • mitral valve prolapse
  • mild aortic dilatation
  • striae
  • minor skeletal involvement
74
Q

What are the management options for Marfan’s? (5)

A
  1. echo
  2. beta blockers
  3. angiotensin II receptor blocker (ARBs)
  4. prophylactic aortic surgery if sinus of valsalva exceeds 5.5cm or 5% growth per year (2mm in adults)
  5. monitor aortic root frequently in pregnancy if diameter exceeds 4cm
75
Q

Marfan’s patient who are on aortic root surgery should be put on what medication?

A

Warfarin (anticoagulants)

76
Q

What is sudden unexpected death syndrome caused by?

A
  • undiagnosed arrhythmia syndrome
  • 1/3 show no post mortem cause
  • most patients had familial predisposition to arrhythmias
77
Q

Which genetic cardiac disorders have ion channelopathies as their site of lesion? (5)

A
  1. long QT syndrome (LQT)
  2. Brugada syndrome
  3. CPVT
  4. progressive cardiac conduction defect (PCCD)
  5. short QT syndrome (SQT)
78
Q

Which genetic cardiac disorder has sarcomere as its site of lesion?

A

Hypertrophic cardiomyopathy

79
Q

Which genetic cardiac disorder has cell junction as its site of lesion?

A

Arrhythmic right ventricular cardiomyopathy (ARVC)

80
Q

Which genetic cardiac disorder has cytoskeleton as its site of lesion?

A

dilated cardiomyopathy

81
Q

What happens during long QT syndrome?

A
  • Romano-Ward syndrome
  • myocytes take longer to recover which predispose patient to fainting and arrhythmias
  • repolarisation anomaly
82
Q

What are the typical features of long QT syndrome?

A
  • patient has seizure-like symptoms
  • syncope common
  • sudden death can arise
  • patient should always have ECG to confirm patient doesn’t have arrthymias
  • emotion, exercise and drugs can make it worse
83
Q

What is the T-wave pattern on ECG and mutation associated with arrhythmia caused by exercise e.g. swimming?

A
  • normal/broad T wave pattern on ECG

- KCNQ1 utation

84
Q

What is the T-wave pattern on ECG and mutation associated with arrhythmia caused by noise/arousal e.g. ringing telephone?

A
  • notched T wave pattern on ECG

- KCNH2 mutation

85
Q

What is the T-wave pattern on ECG and mutation associated with arrhythmia caused by sleep/bradycardia?

A
  • biphasic T wave pattern on ECG

- SCN5A

86
Q

What genes are screened for in long QT syndrome? (5)

A
  1. KCNQ1
  2. KCNH2
  3. SCN5A
  4. KCNE1
  5. KCNE2
87
Q

What are common indicators of a long QT syndrome? (7)

A
  1. abnormal ECG
  2. arrhythmia
  3. family history
  4. sudden death
  5. seizures
  6. syncope
  7. unknown/other
88
Q

Why is genotyping useful?

A
  • improves prognosis (outcome)

- lifestyle changes can be made if needed (antihistamines , extreme sports etc)

89
Q

What is the treatment for long QT syndrome types 1,2,3 and 6? (2)

A
  • beta blockers

- nicorandil (used for angina usually)

90
Q

What is the treatment for long QT syndrome type 3? (3)

A
  1. mexilitene
  2. lidocaine
  3. ICD; implantable cardioverter defibrillator
91
Q

With which genetic mutation is the Brugada syndrome associated with?

A

SCN5A mutation

92
Q

What is the prevalence and presentation of hypertrophic cardiomyopathy?

A
  • prevalence is 1/500

- presentation is variable, sudden death more common if diagnosed <14 years or symptomatic

93
Q

What are modifiers for hypertrophic cardiomyopathy? (2)

A
  • lifestyle (e.g. sports)

- other genes (e.g. ACE polymorphism)

94
Q

What are the most common MONOALLELIC genotypes for hypertrophic cardiomyopathy? (4)

A
  • MYH7 (beta cardiac myosin)
  • MYBPC3 (myosin binding protein-MOST COMMON)
  • TNNT2 (cardiac troponin)
  • TNNI3 (cardiac troponin)
95
Q

What are the most coomon DIALLELIC genotypes for hypertrophic cardiomyopathy? (2)

A
  • MYH7

- MYBPC3/TNNT2

96
Q

What is ARVC: arrhythmogenic right ventricular cardiomyopathy?

A
  • effort induced polymoprhic tachycardia
  • right ventricular cardiomyopathy (dilated)
  • disordered cell junctions (cells lose communication)
  • T wave inversion V2-3 on resting ECG
97
Q

What type of gene mutation is ARVC: arrhythmogenic right ventricular cardiomyopathy?

A

Autosomal dominant >12 genes (cell junction genes)

98
Q

What are the most common cell junction genes which are altered in ARVC: arrhythmogenic right ventricular cardiomyopathy? (8)

A
  1. PKP2
  2. DSG2
  3. DSP
  4. Desmocillin 2
  5. Plakoglobin
  6. TMEM43
  7. TGFB3
  8. RYR2
99
Q

What must there be evidence of to suspect dilated cardiomyopathy? (3)

A
  1. syncope or pre-syncope
  2. tachy or brady arrhythmia
  3. evidence of any arrhythmia on ECG
100
Q

What is the differential diagnosis in dilated cardiomyopathy? (6)

A
  • ischaemic heart disease
  • hypertension
  • skeletal muscle diseas e
  • alcohol abuse
  • exposure to cardiotoxic drugs
  • haemochromatosis
  • mitochondrial disorder
101
Q

What investigation can exclude ischaemic heart disease from dilated cardiomyopathy?

A

angiography

102
Q

What investigation can exclude skeletal muscle disease from dilated cardiomyopathy? (2)

A
  • neurology/genetics evaluation

- CPK (creatine phosphokinase)

103
Q

What investigation can exclude alcohol abuse from dilated cardiomyopathy? (2)

A
  • patient’s history

- biochemical evidence

104
Q

What investigation can exclude exposure to cardiotoxic drugs from dilated cardiomyopathy?

A

-patient history

105
Q

What investigation can exclude haemochromatosis from dilated cardiomyopathy? (2)

A
  • ferritin test (iron storage protein)

- genotyping

106
Q

When should you consider mitochondrial disease in a patient suspected of dilated cardiomyopathy? (5)

A

If patient has:

  • diabetes
  • deadness
  • renitis pigmentosa
  • skeletal muscle disease
  • growth retardation or cognitive disorder (mental health disorder and development)
107
Q

What feature of family history should indicate likeliness of dilated cardiomyopathy in a patient? (2)

A
  • family history of cardiomyopathy

- sudden cardiac death of a family member

108
Q

What genetic testing may be required in dilated cardiomyopathy patient? (4)

A
  1. LMNA gene
  2. SCN5A
  3. dystrophin
  4. sarcomere genes
109
Q

What are the steps for cascade screening for patient’s with suspected cardiac disease?

A
  1. do a 3 generation family history
  2. arrange ECGs for first degree relatives
  3. compare ECG results
110
Q

What type of screening is undertaken for patient’s relatives to test for cardiac disease?

A

cascade screening

111
Q

Why is genetic screening important?

A
  • prevention of avoidable morbidity and mortality
112
Q

What steps should be taken when genetically screening a patient for cardiac disease? (3)

A
  • Identify cardiac phenotype and genetic testing
  • look at family history
  • assess relatives

2. Cardiovascular System (42 decks)

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