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Year 1-Cardiovascular System > Genetics and Cardiovascular Disease > Flashcards

Genetics and Cardiovascular Disease Flashcards

1
Q

What is congenital heart disease?

A

Disorders causing cardiac malfunction present at birth

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2
Q

What happens in copy number variation disorders?

A

There is an extra chromosome- like Down’s syndrome
There is a chromosome missing- Turner’s syndrome

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3
Q

What happens in single nucleotide variation?

A

Change in one single base

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4
Q

What are some of the features of CHARGE association?

A

Coloboma
Heart defects
Atresia of the choanae
Retardation of growth
Genital abnormalities
Ear abnormalities

->each begins w CHARGE

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5
Q

What are some of the features of VACTRL association?

A

Vactyrl anomalies
Anorectal atresia
Cardiac defects
Tracheoesophageal fistula
Renal anomalies
Limb abnormalities.

->each begins with VACTRL

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6
Q

How can CHARGE association occur?

A

Copy Number Variation sometimes
Single nucleotide variation in CHD7

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7
Q

How can the VACTRL association change occur?

A

Change in Fanconi gene

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8
Q

Which foetal environmental factors can result in the development of congenital HD?

A

Rubella, alcohol, anti-epileptic drugs, maternal diabetes mellitus

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9
Q

Why does down’s Syndrome occur?

A

Trisomy 21- extra chromosome

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10
Q

Which congenital heart issues may those with Down’s Syndrome experience?

A

Atrio-ventricular septal defects

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11
Q

Which congenital heart issues may those with Turner’s Syndrome experience?

A

Coarctation of aorta (narrowing)

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12
Q

What can measuring nuchal folds (skin behind the neck) help with?

A

Helps with diagnosing genetic conditions like Down’s Syndrome.

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13
Q

What are some of the symptoms of 22q11 deletion syndrome?

A

C ardiac malformation
A bnormal facies
T hymic hypoplasia
C left palate
H ypoparathyroidism
22 q11 deletion

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14
Q

What % of 22q11 deletion syndrome are familial?

A

25%

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15
Q

William’s syndrome can increase risks of which cardiac issue?

A

Aortic stenosis

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16
Q

What causes the cardiac problems in those with William’s Syndrome?

A

Deletion of Elastin on chromosome 7

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17
Q

What is the cause of the physiological/learning factors of William’s Syndrome?

A

Deletion of adjacent or contiguous genes, including LIM kinase

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18
Q

What is teratogens?

A

Foetal alcohol syndrome

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19
Q

List four of the cardiovascular connective tissue disorders.

A

-Marfan
-Loeys-Dietz
-Ehlers Danlos
-FTAA

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20
Q

List four Familial Arrhythmias.

A
  • Long QT
  • Brugada
  • CPVT
  • ARVC
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21
Q

List two Familial Cardiomyopathy.

A

HCM
DCM

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22
Q

What happens in vascular ehlers donlos?

A

Arteries, valves and tendons are much more likely to rupture.

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23
Q

What type of genetic disorder is Marfan’s Syndrome?

A

Autosomal dominant

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24
Q

Which gene becomes mutated in those with Marfan’s Syndrome?

A

Fibrillin 1 gene

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25
Q

Which chromosome is fibrillin 1 gene?

A

Chromosome 15

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26
Q

What are some of the features of Marfan’s syndrome?

A

-Tall stature
-Long fingers
-Lens subluxation
-Mild aortic root dilatation

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27
Q

What may happen to the CVS which is indicative of Marfan’s syndrome?

A

Aortic dilatation/dissection

28
Q

What may happen to the eyes which is indicative of Marfan’s syndrome?

A

Ectopia lentis

29
Q

Which six things are looked at to help get a systematic score in those with suspected Marfan’s Disease?

A

l Skeletal
l Skin
l Respiratory
l Dural ectasia
l Mitral valve prolapse
l Myopia

30
Q

What is the name of the diagnosis classification for Marfan’s Syndrome?

A

Ghent 2010

31
Q

Which investigation should be carried out if you suspect Marfan’s Syndrome and what should you be doing?

A

ECHOto measure diameter of sinus of Valsalva

32
Q

What other tests can be carried out to confirm a diagnosis of Marfan’s Syndrome?

A

Xray
MRI
Genetic testing

33
Q

What can cause excess signalling which can lead to cell proliferation and Marfan’s?

A

Excess TGF beta causes excess TGF beta signalling

34
Q

What is the TGF beta antagonist?

A

Losartan

35
Q

What is the aim of management of Marfan’s Syndrome?

A

Reducing growth in aortic diameter
Controlling BP

36
Q

What is the intervention when the risk of aortic rupture if too high?

A

Surgical intervention

37
Q

As the aim of management is to prevent the aorta becoming any wider, how is this recorded?

A

Annual ECHO

38
Q

How much growth does there need to be in the Sinus of Valsalva for surgery to be undertaken?

A

5.5.cm or 5% per year
2mm in adults

39
Q

Which drug might help reduce the growth of the Marfan aorta?

A

Beta blockers
Angiotensin II receptor blockers

40
Q

What are the options for aortic surgery?

A

Replace the aorta with a Dacron graft
Replace the aortic valve w a mechanical valve
Replace aortic root

41
Q

What is one of the disadvantages of a mechanical valve?

A

Patient needs to take anticoagulants for life

42
Q

What is the disadvantage of a aortic root replacement?

A

Although no anticoagulant is required, patient may need further surgery in the future.

43
Q

What are some of the features of QT syndorme?

A

Prolonged ECG QT interval
Ventricular tachycardia
Syncope

44
Q

What is the name of the autosomal dominant form of QT syndrome?

A

Romano-ward syndrome

45
Q

What is the name of the autosomal recessive form of QT syndrome?

A

Jervell Lange-Neilsen

46
Q

What can changes in the potassium channel lead to?

A

Delayed repolarisation of cardiac muscle cells

47
Q

Changes to which gene can cause Long QT 1?

A

KCNQ1

48
Q

Changes to which gene can cause Long QT 2?

A

KCNQ2

49
Q

In those with Long QT 1, what can precipitate arrhythmia?

A

Diving/swimming into cold water

50
Q

In those with Long QT 2, what can precipitate arrhythmia?

A

Loud sudden noise

51
Q

Long QT 1 responds well to which treatment?

A

Beta blockers

52
Q

What are some of the features of Brugada syndrome?

A

Ventricular arrhythmia- causing syncope or sudden death
Abnormal PR interval
Abnormal LV function

53
Q

How can you diagnose Brugada syndrome?

A

By carrying out a Ajmaline challenge test.

54
Q

What is Ajmaline?

A

Sodium channel blocker

55
Q

What are some of the management options for Brugada syndrome?

A

Avoiding fever, excess alcohol and overeating.

56
Q

What can be given to those who have had an arrhythmia and also have Brugada syndrome?

A

ICD- implantable cardiac defibrillator

57
Q

What is ARVC?

A

RV does not function correctly and gets infiltration by fat and fibrosis.

58
Q

What is the most commonly inherited cardiac disease?

A

Hypertrophic Cardiomyopathy

59
Q

What happens in Hypertrophic Cardiomyopathy?

A

Heart muscle is thickened and enlarged

60
Q

What is the most common genetic cause of Hypertrophic Cardiomyopathy?

A

Mutation of MYBPC3

61
Q

What can hypertrophic cardiomyopathy cause?

A

Obstruction to blood flow
Arrhythmia

62
Q

What is the largest gene in the genome?

A

Titin

63
Q

What can occur due to truncating variants in titan?

A

Dilated cardiomyopathy

64
Q

Which sequencing allows us to look at titan?

A

Next generation sequencing

65
Q

What is the main advantage of next generation sequencing?

A

Allows us to do sequencing on a much bigger scale.

66
Q

What are the five categories that gene variants can be classified by?

A

Pathogenic
Likely pathogenic
Uncertain
Likely benign
Benign

Year 1-Cardiovascular System (41 decks)

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