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Cardio > Genetics and CVS disease > Flashcards

Genetics and CVS disease Flashcards

1
Q

What is meant by Copy number variation?

A

Cause of congenital defects (incl. Congenital heart disease)

Can be whole chromosome - monosomy, trisomy

Can be part of a chromosome - 22q11 deletion, Williams

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2
Q

What is meant by single nucleotide variation?

A

Mutation in which single nucleotide is fucked up

Mendelian disorders:

  • Noonan/CFC
  • Marfan
  • SVAS
  • Holt-Oram
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3
Q

What causes Down’s syndrome?

A

Trisomy 21

95% maternal non-disjunction (mat age)
3% translocation
2% mosaic

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4
Q

How is Down’s syndrome relevant to the Cardiovascular system?

A

15% born with Atrial septal defect

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5
Q

How does Down’s syndrome affect the digestive system’s development?

A

8% born with Duodenum atresia

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6
Q

How would an ultrasound scan indicate that a foetus may have Down’s syndrome?

A

Nuchal translucency

This is a translucent area on the back of the neck at 12 weeks - thickness of area measured

Nuchal prenatal screening scan is done to detect abnormalities of the CVS & can indicate risk of Down’s S etc

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7
Q

What is the name given to blocked lymphatic fluid that is trapped, commonly in the head/neck area of a developing foetus?

A

Cystic hygroma

Associated with congenital HD

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8
Q

What percentage of foetuses with congenital heart diseases have abnormal chromosomes?

A

19%

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9
Q

What percentage of new borns with congenital heart diseases have chromosomal abnormalities?

A

13%

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10
Q

What chromosomal abnormality causes Turner’s syndrome?

A

45, X

30% mosaic

5% 45,X/46XY

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11
Q

What are the signs/effects of Turner syndrome?

A

Neck webbing
Short stature
Puffy hands

Coarctation of aorta
Gonadal dysgenesis

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12
Q

Is neck webbing only associated with Turner syndrome?

A

No, the syndromes with webbed necks are:

Turner
Noonan
CFC 
Leopard 
Costello
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13
Q

How would you identify Noonan syndrome?

A

Neck webbing
Short stature
Cryptorchidism (testis don’t drop from abdomen)
Characteristic face

Pulmonary stenosis

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14
Q

How would you identify Cardio-Facio-Cutaneous syndrome? (CFC)

A

Ectodermal problems
Developmental delay

Noonan like:

  • Neck webbing
  • Short stature
  • Cryptorchidism
  • Characteristic face
  • Pulmonary stenosis
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15
Q

How would you identify Leopard syndrome?

A

Noonan like

Also:

  • Multiple lentigenes (brown patches on skin)
  • Deafness
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16
Q

How would you identify Costello syndrome?

A

Noonan like but with:

  • Thickened skin folds
  • Warts
  • Cardiomyopathy
  • Later cancer risk
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17
Q

Leopard, Costello, CFC & Noonan syndromes are all associated with defects in enzymes in what cellular pathway?

A

MAPK pathway

Mitogen activated protein kinase

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18
Q

How would you identify 22q11 deletion syndrome?

A

CATCH22

Cardiac malformation 
Abnormal facies (distinct facial look/expression) 
Thymic hypoplasia 
Cleft palate 
Hypoparathyroidism

22q11 deletion

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19
Q

What functional abnormalities are experienced by people with 22q11 DS?

(assuming any defects at birth are fixed)

A

Renal

Psychiatric

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20
Q

What 2 syndromes make up 22q11 DS?

A

DiGeorge syndrome

Shprintzen syndrome

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21
Q

What factors of 22q11 DS does DIGeorge syndrome account for?

A

Thymic hypoplasia
Hypoparathyroidism
Outflow tract myocardial malformation

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22
Q

What factors of 22q11 ds does Shprintzen syndrome account for?

A

Cleft palate / malformation of palate
Outflow tract myocardial malformation
Facies (face)
Autosomal dominance

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23
Q

How would you identify William’s syndrome?

A 
Aortic stenosis - supravalvular 
Hypercalcaemia 
5th finger clinodactyly - bent pinky 
Facies 
Cocktail party manner
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24
Q

What causes Williams syndrome?

A

Deletion of several continuous genes on the long arm of chromosome 7 including elastin and LIM kinase

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25
Q

What is the risk and effects of consuming alcohol when pregnant?

A

Foetal alcohol syndrome - 3-5 units per week

Effects:
IUGR < 10th centile 
Head < 10th centile 
ADHD 
Face

(IUGR = intrauterine growth restriction)

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26
Q

One of the JAMTHREADS drugs for treatment is teratogenic

Which one is it?

A

Epilepsy

Antiepileptics are teratogenic

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27
Q

Contraction of what can cause german measles?

A

Rubella

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28
Q

What JAMTHREADS illness is teratogenic in itself?

A

Diabetes

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29
Q

Which parent is more generally likely to pass on a simple congenital heart disease?

A

Mother

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30
Q

VSD is associated with deficiency of what necessary vitamin thing?

A

Folate

31
Q

What are the cardiovascular connective tissue diseases?

A

Marfan
Loeys-Dietz
Ehlers Danlos
FTAA

32
Q

What are the different Familial arrhrythmias?

A

Long QT
Brugada
CPVT
ARVC

33
Q

What are the different familial cardiomyopathy diseases?

A

Hypertrophic cardiomyopathy

Dilated cardiomyopathy

ARVC

34
Q

Mutation of what gene causes Marfan’s syndrome?

A

Fibrillin 1 gene

Chromosome 15q21

35
Q

What system is used to diagnose Marfan’s syndrome?

A

GHENT criteria 2010

Must have 2 positive findings

36
Q

Describe the GHENT criteria

A

Aortic dilation/dissection
Ectopia lentis
Fibrillin 1 mutation
1 unequivocally affected relative

Systemic score - must have 7 or more of:

  • Skeletal
  • Skin
  • Respiratory
  • Dural ectasia (dilation of dural sac around spinal cord)
  • Mitral valve prolapse
  • Myopia (short sightedness)
37
Q

Why is ECHO useful for diagnosing Marfan’s

A

ECHO is mandatory

Measure diameter of aortic root at sinus of Valsalva, showing extent of dilation

Identify mitral valve prolapse

38
Q

Why could a blood test be useful for diagnosing Marfan’s?

A

Genome sequencing (or other) can identify Fibrillin 1 gene mutations

This is identifiable in 70-90% of people with Marfan’s

39
Q

Why is an X ray a useful imaging technique for diagnosing Marfan’s syndrome?

A

Pelvic Xray will identify Protrusio acetabulae (skeletal feature)

CXR (or CT) can identify Apical blebs (Respiratory feature)

40
Q

Why are MRI’s useful for diagnosing Marfan’s?

A

Lumbar MRI will identify Dural ectasia

Cardiac MRI will identify aortic dilation/dissection

41
Q

Even if a father and son both have Marfan’s syndrome, they might show different symptoms & signs

Why is this?

A

Different symptoms present at different times

42
Q

Summarise the treatment for Marfan’s syndrome

A

Prophylactic:

Antihypertensives - Beta blockers, ARBs, ANG2 type 2 receptor blockers, calcium channel blockers

Aortic root surgery - if sinus of Valsalva > 5.5cm or 5% growth per year

Advice to avoid contact sports and heavy exertion

Annual review - ECHO

43
Q

What findings on an ultrasound scan of a foetus would indicate an increased risk of congenital heart disease?

A

Nuchal translucency thickness

Cystic hygroma

44
Q

Mutations involving what gene & chromosome give rise to Noonan syndrome and Noonan-like syndromes?

A

PTPN11

On chromosome 12

45
Q

What type of trait is Noonan syndrome?

A

Autosomal dominant

pretty much all of the syndromes in this lecture are autosomal dominant

46
Q

What is CPVT?

A

Catecholaminergic polymorphic ventricular tachycardia

It is one of the familial arrhythmias

47
Q

What is ARVC?

A

Arrhythmogenic right ventricular cardiomyopathy

One of the familial arrhythmias (although it has a cardiomyopathy aspect as well)

48
Q

What would be a typical signs on presentation of someone that has Marfan’s?

A

Tall with long arms

Hypermobile/flexible

Stretch marks on lower back

Pectus carinatum

History of myopia, lung problems

Family history of Cardio disease and tallness and all that shite

49
Q

What are the main features of Loeys-Dietz syndrome?

A

Marfan’s like signs

Arterial weakening / dissection
Tortuosity
Bifid uvula / cleft palate
Hypertelorism - increased distance between the eyes

skin and skeletal findings

50
Q

What mutation causes loeys-dietz?

A

Chromosome 3p22 or 9q33

51
Q

What chromosomal mutations are associated with Familial thoracic aortic aneurysms?

A 
11q 
5q 
3p22
16p13
10q22-24

Bicuspid aortic valve
FTAA

52
Q

What features characterise the MASS phenotype?

A 
myopia
mitral valve prolapse
mild aortic dilatation (<2sd)
striae
minor skeletal involvement
May be fibrillinopathy
53
Q

What arrhythmia is associated with ion chanellopathy and why is it relevant to Sudden Unexpected Death?

A

Autopsy of people with SUD showed that 35% had ion channelopathy

The majority of these is Long QT syndrome

54
Q

Some study that was done studied the relatives of people who had Sudden unexpected death

What did this investigation show?

A

40-53% of SUD patient’s 1st degree relatives had an identifiable inherited heart disease

basically indicates that inherited heart diseases put patient at risk of Sudden unexpected death

55
Q

What is Romano-ward syndrome?

A

Form of Long QT syndrome

Key feature is that only the conduction properties of the heart are affected whereas other long QT syndromes have effects elsewhere in the body

56
Q

What are the risks posed to someone with Romano-Ward syndrome?

A

Syncope
Seizures
Sudden Death

57
Q

What features of an ECG would indicate Romano-Ward syndrome?

A

Long QT interval

Repolarisation anomalies (T/U waves)

Paroxysmal polymorphic VT (Torsades de Pointes)

58
Q

What is Jervell Lange-Neilsen syndrome?

A

Almost identical to Romano-Ward syndrome

Form of Long QT syndrome with risks of Syncope, seizures and sudden death

+ sensorineural deafness !

59
Q

What are the main features of Brugada syndrome?

A

Sudden cardiac death or VT/VF and Type 1 Brugada ECG

prolonged PR interval

enlarged LV / poor LV function

60
Q

What group of people is Brugada syndrome most common in?

A

Young men, especially of far eastern origin

61
Q

What is the test done to diagnose Brugada syndrome?

A

Ajmaline challenge

62
Q

What mutation most commonly causes Brugada syndrome?

A

SCN5A

63
Q

What is the management route for Brugada syndrome?

A 
Avoid Fever 
Avoid excess alcohol 
Avoid overeating 
(- Vagal effects)

ICD

64
Q

What is AVC?

A

Atrioventricular canal defect

ASD + VSD + Improperly formed Mitral and/or Tricuspid valves

65
Q

How is Atrioventricular canal investigated?

A

ECHO / CMRI (RV dyskinesia)

ECG - epsilon waves , T wave inversion

SAECG - late potentials

Family history / investigation of pathogenic gene variant

66
Q

What histological abnormality is present in Atrioventricular canal patients?

A

Fatty infiltration of Right Ventricle

67
Q

What is the prevalence of Hypertrophic cardiomyopathy?

A

1/500

68
Q

What HCM patients are most at risk of sudden cardiac death?

A

SCD most common in those diagnoses <14 years old

Or in those who are symptomatic

69
Q

What are the modifiers for the prognosis of a patients with HCM?

A

Lifestyle - sport etc

Other genes - eg ACE polymorphism

70
Q

Which allelic form of HCM is most common?

A

Monoallelic

Most common is Myosin binding protein gene mutation (MYBPC3)

71
Q

What histological feature is present in H(O)CM?

A

Myofibrillar disarray

72
Q

What are the steps in investigating / diagnosing Dilated cardiomyopathy?

A

ECHO

Exclude other conditions

Family history - look for history of SCD or cardiomyopathy evidence

Genetic testing

73
Q

What genetic testing for what genes may be done to investigate Dilated cardiomyopathy?

A 
Titin
LMNA
SCN5A
Dystrophin
Sarcomere genes
74
Q

What is the difference between whole genome sequencing and whole exome sequencing?

A

Exome sequencing only involves the parts of genes that code for proteins

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