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SUDDEN DEATH > SUDDEN DEATH > Flashcards

SUDDEN DEATH Flashcards

1
Q

Describe the process that occurs for DNA to form genes

A

DNA (genes) are transcribed to pre-MRNA

pre-mRNA is spliced to MRNA (introns removed)

mRNA is translated to protein

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2
Q

What terms are used to describe whether the centromere is in the middle of the chromosome or at one end?

A

Metacentric - centromere is in the middle of the chromosome

Acrocentric - centromere is at one end

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3
Q

The ends of chromosomes are called telomeres and don’t contain any genes but instead many repeats of what sequence?

A

TTAGGG

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4
Q

What are base pair variations called when they occur a t a frequency of >1% of the population?

A

Polymorphisms

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5
Q

What are copy number variations?

A

Segmental, duplication- rich regions of the genome where the number of duplicants varies between people

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6
Q

What is penetrance?

A

The likelihood of having a disease if you have a gene mutation

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7
Q

When is FISH used?

A

To light up a specific bit of chromosome if you know which bit you want to look at

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8
Q

What is next generation sequencing used?

A

To look at more than one gene

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9
Q

How does microarray CGH work?

A

DNA strands are separated by hearing

Probes are used

Can show up small deletions, insertions and CNVs

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10
Q

Which trisomy disorders are the only ones which survive to birth?

A

Trisomy 13,18, 21

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11
Q

Which condition is a sex chromosome trisomy?

A

Klinefelter’s

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12
Q

Which condition is a sex chromosome monosomy?

A

Turner’s

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13
Q

Examples of conditions which involve chromosome deletions

A

Prader-Willi syndrome

DiGeorge syndrome

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14
Q

Example of a condition which involves a chromosome duplication?

A

Charcot-Marie-Tooth-Disease

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15
Q

Example of a condition which involves an inversion?

A

Hamophilia

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16
Q

What are mendelian disorders?

A

Diseases which are caused by a change in a single gene

(high penetrance with small environmental contribution)

Can be inherited or a new mutation

Includes autosomal recessive and dominant and X-linked conditions

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17
Q

Are somatic mutations inherited?

A

NO these are mutations which occur as a cell divides

Often give rise to tumours

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18
Q

What is the risk to the child if a parent has an autosomal dominant condition?

A

50%

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19
Q

What is the risk to the child if parents are carriers of an autosomal recessive condition?

A

25%

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20
Q

If a mother is a carrier of an X-linked condition, what is the % chance of her son and daughter being affected?

A

50% chance that the daughter will be a carrier but she won’t be affected

50% chance the son will be affected

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21
Q

What is imprinting?

A

Differences in gene expression depending on whether a gene is maternally or paternally inherited

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22
Q

What is a point mutation?

A

One base pair in a DNA sequence is substituted for an other

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23
Q

Why effect do splicing mutations have?

A

Processed mRNA that is translated into proteins may carry intron sequences or miss exons - this alters amino acid composition

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24
Q

What are nonsense mutations?

A

Mutations in a sequence of DNA that results in a premature stop codon

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25
Q

What is the effect of mutations to tumour suppressor genes?

A

Cancer

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26
Q

What is the effect of mutations to oncogenes?

A

Cancer

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27
Q

What are the 5 different types of shock?

A

Cardiogenic

Neurogenic

Anaphylactic

Septic

Hypovolaemic

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28
Q

What is shock?

A

Inadequate perfusion and thus inadequate oxygen delivery to tissues and eventually organ failure

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29
Q

What is distributive shock an umbrella term for?

A

Septic
Anaphylactic
Neurogenic

(there is sufficient blood but it is in the wrong place)

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30
Q

What are the causes of neurogenic shock?

A

Spinal cord injury

Spinal anaesthesia

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31
Q

What are some of the causes of cariogenic shock?

A

MI/ PE/ tamponade/ valvular heart disease/ CCF

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32
Q

What effect does shock have on BP?

A

Reduced BP

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33
Q

Tachycardia occurs In 4/5 types of shock. Which type of shock causes bradycardia?

A

Neurogenic

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34
Q

Which type of shock may present with a urticarial rash?

A

Anaphylactic

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35
Q

How does skin appear in neurogenic shock?

A

Vasodilated below the lesion

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36
Q

What is the key problem in neurogenic shock?

A

There is loss of sympathetic outflow in the thoracic spine

Thus parasympathetics take over

37
Q

How does sepsis cause shock?

A

Toxins and capillary malfunction

38
Q

How is hypovolaemic shock managed?

A

Fluid and blood replacement

39
Q

How is cardiogenic shock managed?

A

Careful fluid administration

Inotropes e.g dobutamine

Vasopressor drugs e.g noradrenaline

40
Q

How is neurogenic shock managed?

A

Vasopressors

41
Q

How is anaphylactic shock managed?

A

Adrenaline

IV fluids

42
Q

How is septic shock managed?

A

SEPSIS 6

43
Q

What is included within sepsis 6?

A

Give oxygen
Give fluids
Give antibiotics

Take lactate
Take urine output
Take bloods cultures

44
Q

What are some of the key points for high quality CPR?

A

30:2

Centre of the chest

5-6cm depth

100-120 per min

Good recoil - after each compression release all pressure without taking hands off

45
Q

What cardiac rhythms are non-shockable?

A

Asystole

Pulseless electrical activity

46
Q

How is asystole managed?

A

Non-shockable

Adrenaline IV every 3-5 mins

47
Q

How is pulseless electrical activity managed?

A

Non-shockable

Adrenaline IV every 3-5 mins

48
Q

Which cardiac rhythms are shockable?

A

Ventricular tachycardia (pulseless)

Ventricular fibrillation

49
Q

How is ventricular tachycardia managed if there is a pulse?

A

Cardioversion

50
Q

What are the 8 reversible causes of cardiac arrest?

A 
Hypoxia 
Hypovolaemia 
Hypothermia 
Hyperkalaemia 
Thrombosis 
Toxins
Tamponade 
Tension pneumothorax
51
Q

How is heart rate calculated from an ECG?

A

300/ the number of large squares between R-R

52
Q

What do the different waves/ complexes mean in an ECG?

A

P wave = atrial depolarisation (contraction)

QRS complex = ventricular depolarisation (contraction)

T wave = ventricular repolarisation (relaxation)

NB atrial repolarisation is hidden by the QRS complex

53
Q

Which cardiac arrhythmia has a classic ‘saw tooth’ appearance on ECG?

A

Atrial flutter

54
Q

What are the two types of ventricular tachycardia?

A

Monomorphic VT

Polymorphic VT

55
Q

What is the most common cause of first degree heart block?

A

Medications

56
Q

What is first degree heart block?

A

Block in the AV node

Prolonged PR Interval

57
Q

What is mobitz type 1 second degree heart block?

A

Increased PR interval until there is a dropped beat

58
Q

What is mobitz type 2 second degree heart block?

A

Same PR interval for all conducted bears

Some p waves are not conducted

59
Q

What is third degree heart block?

A

Atrio-ventricular dissociation

No correlation between p waves and QRS complexes

60
Q

Most inherited cardiac conditions follow which inheritance pattern?

A

Autosomal dominance

61
Q

a QT interval greater than what is considered to be prolonged QT syndrome?

A

> 440ms

62
Q

What is the most common cause of long QT syndrome?

A

Drugs

Esp antiarrhythmics

63
Q

What are the two different types of congenital long QT syndrome? Which of these is associated with deafness?

A

Romano-Ward syndrome

Jervell-Lange-Nielsen syndrome (includes deafness)

64
Q

What is the cause of congenital long QT syndrome?

A

Mutations in LQT1/2 genes which cause defects in potassium channels

65
Q

What can trigger long QT syndrome?

A

Adrenaline (stress and exercise)

Clarithromycin, azithromycin

Anaesthetic drugs

66
Q

How does congenital long QT syndrome present?

A

Syncope

Sudden cardiac death

67
Q

How is congenital long QT syndrome managed?

A

Avoid drugs which prolong the QT interval

Avoid strenuous exercise

B-blockers

ICD

68
Q

What syndrome is an inherited cause of sudden cardiac death in infants?

A

Short QT syndrome

Very rare, mutation in K+ channels

69
Q

What is the cause of Brugada syndrome?

A

Mutations in the SCN5A gene, causes defects in Na+ channels

70
Q

What are the ECG changes seen in Brugada syndrome?

A

VF/ VT/ AF

ST segment elevation

RBBB in V1-V3

71
Q

What are some of the triggers for Brugada syndrome?

A

Illness

Sleep deprivation

Excessive alcohol

72
Q

How is Brugada syndrome managed?

A

Avoid drugs that induce ST segment elevation

Avoid anti-arrhythmic drugs and anaesthetic drugs

Prompt treatment of fevers/ illness

Implant an ICD

73
Q

What triggers Catecholaminergic polymorphic ventricular tachycardia?

A

Adrenaline

therefore defibrillation which releases adrenaline makes it worse

74
Q

How is CPVT managed?

A

Avoidance of stress and strenuous exercise

B-blockers

Can try flecainide

75
Q

What is Wolff-Parkinson- White syndrome?

A

A cardiac condition which involves abnormal pathways connecting the atria and ventricles

76
Q

How is WPW syndrome managed?

A

Ablation of accessory pathways

77
Q

What are the ECG signs of WPW syndrome?

A

Wide QRS complexes

Short PR interval

Delta waves (slurred upstroke)

Inverted T waves

78
Q

Name some of the inherited channelopathies which can cause sudden cardiac death

A

Congenital Long QT syndrome

Short QT syndrome

Brugada syndrome

CPVT

WPW syndrome

79
Q

Name some of the inherited structural cardiac conditions which can cause sudden cardiac death

A

Hypertrophic cardiomyopathy

Dilated cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy

80
Q

What is the leading cause of cardiac death in young athletes?

A

Hypertrophic cardiomyopathy

81
Q

What mutation causes hypertrophic cardiomyopathy?

A

Mutations in sarcomeric genes

82
Q

How is hypertrophic cardiomyopathy managed?

A

Avoidance of competitive sports

Implantable ICD

83
Q

What is the second most common cause of sudden cardiac death in the young after hypertrophic cardiomyopathy?

A

Arrhythmogenic right ventricular cardiomyopathy

84
Q

What is arrhythmogenic right ventricular cardiomyopathy?

A

Replacement of cardiomyocytes with fatty tissue

85
Q

What mutation causes arrhythmogenic right ventricular cardiomyopathy?

A

Mutations in genes encoding desmosome

86
Q

How is arrhythmogenic right ventricular cardiomyopathy managed?

A

Avoidance of competitive sports

B-blockers

ICD

87
Q

Who must always be informed about sudden infant death?

A

The procurator fiscal

88
Q

Where is the safest place for a baby to sleep?

A

On it back in a cot

Feet should be at the end of the cot

SUDDEN DEATH (1 decks)

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