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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
What is the effect of mutations to tumour suppressor genes?
Cancer
26
What is the effect of mutations to oncogenes?
Cancer
27
What are the 5 different types of shock?
Cardiogenic Neurogenic Anaphylactic Septic Hypovolaemic
28
What is shock?
Inadequate perfusion and thus inadequate oxygen delivery to tissues and eventually organ failure
29
What is distributive shock an umbrella term for?
Septic Anaphylactic Neurogenic (there is sufficient blood but it is in the wrong place)
30
What are the causes of neurogenic shock?
Spinal cord injury Spinal anaesthesia
31
What are some of the causes of cariogenic shock?
MI/ PE/ tamponade/ valvular heart disease/ CCF
32
What effect does shock have on BP?
Reduced BP
33
Tachycardia occurs In 4/5 types of shock. Which type of shock causes bradycardia?
Neurogenic
34
Which type of shock may present with a urticarial rash?
Anaphylactic
35
How does skin appear in neurogenic shock?
Vasodilated below the lesion
36
What is the key problem in neurogenic shock?
There is loss of sympathetic outflow in the thoracic spine Thus parasympathetics take over
37
How does sepsis cause shock?
Toxins and capillary malfunction
38
How is hypovolaemic shock managed?
Fluid and blood replacement
39
How is cardiogenic shock managed?
Careful fluid administration Inotropes e.g dobutamine Vasopressor drugs e.g noradrenaline
40
How is neurogenic shock managed?
Vasopressors
41
How is anaphylactic shock managed?
Adrenaline IV fluids
42
How is septic shock managed?
SEPSIS 6
43
What is included within sepsis 6?
Give oxygen Give fluids Give antibiotics Take lactate Take urine output Take bloods cultures
44
What are some of the key points for high quality CPR?
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
What cardiac rhythms are non-shockable?
Asystole Pulseless electrical activity
46
How is asystole managed?
Non-shockable Adrenaline IV every 3-5 mins
47
How is pulseless electrical activity managed?
Non-shockable Adrenaline IV every 3-5 mins
48
Which cardiac rhythms are shockable?
Ventricular tachycardia (pulseless) Ventricular fibrillation
49
How is ventricular tachycardia managed if there is a pulse?
Cardioversion
50
What are the 8 reversible causes of cardiac arrest?
``` Hypoxia Hypovolaemia Hypothermia Hyperkalaemia Thrombosis Toxins Tamponade Tension pneumothorax ```
51
How is heart rate calculated from an ECG?
300/ the number of large squares between R-R
52
What do the different waves/ complexes mean in an ECG?
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
Which cardiac arrhythmia has a classic 'saw tooth' appearance on ECG?
Atrial flutter
54
What are the two types of ventricular tachycardia?
Monomorphic VT Polymorphic VT
55
What is the most common cause of first degree heart block?
Medications
56
What is first degree heart block?
Block in the AV node Prolonged PR Interval
57
What is mobitz type 1 second degree heart block?
Increased PR interval until there is a dropped beat
58
What is mobitz type 2 second degree heart block?
Same PR interval for all conducted bears Some p waves are not conducted
59
What is third degree heart block?
Atrio-ventricular dissociation No correlation between p waves and QRS complexes
60
Most inherited cardiac conditions follow which inheritance pattern?
Autosomal dominance
61
a QT interval greater than what is considered to be prolonged QT syndrome?
>440ms
62
What is the most common cause of long QT syndrome?
Drugs Esp antiarrhythmics
63
What are the two different types of congenital long QT syndrome? Which of these is associated with deafness?
Romano-Ward syndrome Jervell-Lange-Nielsen syndrome (includes deafness)
64
What is the cause of congenital long QT syndrome?
Mutations in LQT1/2 genes which cause defects in potassium channels
65
What can trigger long QT syndrome?
Adrenaline (stress and exercise) Clarithromycin, azithromycin Anaesthetic drugs
66
How does congenital long QT syndrome present?
Syncope Sudden cardiac death
67
How is congenital long QT syndrome managed?
Avoid drugs which prolong the QT interval Avoid strenuous exercise B-blockers ICD
68
What syndrome is an inherited cause of sudden cardiac death in infants?
Short QT syndrome Very rare, mutation in K+ channels
69
What is the cause of Brugada syndrome?
Mutations in the SCN5A gene, causes defects in Na+ channels
70
What are the ECG changes seen in Brugada syndrome?
VF/ VT/ AF ST segment elevation RBBB in V1-V3
71
What are some of the triggers for Brugada syndrome?
Illness Sleep deprivation Excessive alcohol
72
How is Brugada syndrome managed?
Avoid drugs that induce ST segment elevation Avoid anti-arrhythmic drugs and anaesthetic drugs Prompt treatment of fevers/ illness Implant an ICD
73
What triggers Catecholaminergic polymorphic ventricular tachycardia?
Adrenaline | therefore defibrillation which releases adrenaline makes it worse
74
How is CPVT managed?
Avoidance of stress and strenuous exercise B-blockers Can try flecainide
75
What is Wolff-Parkinson- White syndrome?
A cardiac condition which involves abnormal pathways connecting the atria and ventricles
76
How is WPW syndrome managed?
Ablation of accessory pathways
77
What are the ECG signs of WPW syndrome?
Wide QRS complexes Short PR interval Delta waves (slurred upstroke) Inverted T waves
78
Name some of the inherited channelopathies which can cause sudden cardiac death
Congenital Long QT syndrome Short QT syndrome Brugada syndrome CPVT WPW syndrome
79
Name some of the inherited structural cardiac conditions which can cause sudden cardiac death
Hypertrophic cardiomyopathy Dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy
80
What is the leading cause of cardiac death in young athletes?
Hypertrophic cardiomyopathy
81
What mutation causes hypertrophic cardiomyopathy?
Mutations in sarcomeric genes
82
How is hypertrophic cardiomyopathy managed?
Avoidance of competitive sports Implantable ICD
83
What is the second most common cause of sudden cardiac death in the young after hypertrophic cardiomyopathy?
Arrhythmogenic right ventricular cardiomyopathy
84
What is arrhythmogenic right ventricular cardiomyopathy?
Replacement of cardiomyocytes with fatty tissue
85
What mutation causes arrhythmogenic right ventricular cardiomyopathy?
Mutations in genes encoding desmosome
86
How is arrhythmogenic right ventricular cardiomyopathy managed?
Avoidance of competitive sports B-blockers ICD
87
Who must always be informed about sudden infant death?
The procurator fiscal
88
Where is the safest place for a baby to sleep?
On it back in a cot Feet should be at the end of the cot

SUDDEN DEATH (1 decks)

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