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Yr3 CLASP > Sudden death > Flashcards

Sudden death Flashcards

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1
Q

In the central dogma, which process is most likely to be affected by a mutation changing the first base in an intron

A

Splicing

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2
Q

What is a motif

A

short DNA sequences that indicate where splicing should happen in the RNA strand, the most important parts are the 2 bases in the intron just before and just after the exon

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3
Q

what type of genetic sequence variant is most likely to cause long QT syndrome

A

A premature stop codon in the exon 2 of a gene

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4
Q

what is the effect of deleting a single base in an exon of the gene

A

Frameshift mutation

changes all the following amino acids as the base pairs change

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5
Q

what is a missense mutation

A

single base pair substitution altering genetic code

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6
Q

what is a nonsense mutation?

A

where a stop codon is encoded for, creating short chains

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7
Q

what is next generation sequencing?

A

high throughput method used to determine portion of nucleotide sequence of a genome

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8
Q

what is the most common arrhythmia associated with long QT

A

torsades de pointes

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9
Q

What advice should you give to reduce risk of sudden infant death

A

put baby on their back to go to sleep

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10
Q

what is a feature of an ECG seen in Ventricular tachycardia?

A

The QRS complexes last longer than 120s

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11
Q

what are clinical signs of sepsis

A 
rapid breathing and HR
shortness of breath
low BP
confusion
feverish and clammy
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12
Q

what drug is used to treat a patient with long QT syndrome

A

Atenolol

Avoid QT prolonging drugs
flecainide, haloperidol, furosemide

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13
Q

What are the reversible causes of cardiac arrest

A

4 H’s

  • hypoxia
  • hypovolaemia
  • hypo/hyperkalaemia
  • hypothermia

4 T’s

  • thrombosis (coronary or pul)
  • Tamponade
  • toxins
  • Tension pneumothorax
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14
Q

Name the non - suspicious and suspicious causes of hypoxia

A

Non suspicious

  • asthma
  • pneumothorax
  • respiratory obstruction (epiglottitis, choking)
  • Respiratory depression (drug related, overdose)
  • Aspiration

Suspicious

  • Respiratory obstruction
  • Drug related - overdose, negligence, poisoning
  • Drowning
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15
Q

Name the non - suspicious and suspicious causes of hypovolaemia

A

Non - suspicious

  • upper GI haemorrhage
  • lower GI haemorrhage
  • Haemoperitoneum - liver/spleen laceration
  • Trauma
  • Abdominal aortic aneurysm

Suspicious

  • trauma
  • stabbings
  • shootings
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16
Q

Name the non - suspicious and suspicious causes of hyper/hypokalaemia?

A

Non - suspicious

  • DKA
  • Alcoholic ketoacidosis
  • Toxins

Suspicious
- toxins

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17
Q

Name some non suspicious and suspicious causes of hypothermia

A

Non - suspicious

  • exposure to cold
  • alcoholic
  • drugs
  • underlying medical disease

Suspicious

  • cold exposure
  • water
  • neglect
  • forced outside
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18
Q

Define shock

A

condition of inadequate perfusion to sustain normal organ perfusion

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19
Q

what are the 5 main classes of shock

A

Hypovolaemic - loss of circulating volume, reduced preload and CO

Cardiogenic - myocardial dysfunction causing reduction in systolic function and CO

Obstructive - physical obstruction to filling of the heart, reduced preload and CO

Distributive - significant reduction in SVR

Cytotoxic - uncoupling of tissue oxygen delivery and mitochondrial oxygen uptake

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20
Q

Give examples of causes for the different types of shock

A

Hypovolaemic
- bleeding (most common), third space losses, severe dehydration

Cardiogenic
- MI, myocarditis, acute valve lesion

Obstructive
- Tamponade, PE, Tension pneumothorax

Distributive
- septic shock, anaphylaxis, neurogenic

Cytotoxic
- CO/CN poisoning

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21
Q

Describe hypovolaemic shock

A

where there is insufficient circulating volume to fill the circuit and maintain BP

Leads to hypoperfusion and hypoxia of end organs

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22
Q

Features of hypovolaemic shock

A

Initially people compensate very well and may just have tachycardia

  • sweaty
  • anxious
  • tachycardia
  • narrowing pulse pressure
  • increasing resp rate
  • hypotension is a late sign in haemorrhage
  • confusion
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23
Q

Compensatory mechanisms in hypovolaemia

A

Baroreceptor reflexes - stretch sensitive receptors in carotid sinus and aortic arch, decreased stretch = enhanced symp. output

Sympathetic mediated neurohormonal response - release of adrenergic vasoconstrictors (adrenaline and noradrenaline), redirection of fluids, leads to lactic acidosis driving chemoreceptors, circulating vasodilators also increase

Capillary absorption of interstitial fluid - reduced capillary pressure, net inward filtration

Renal and hypothalamo - pituitary adrenal response - renin release enhancing vasoconstriction and secretion of aldosterone/vasopressin

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24
Q

what are the 3 ways that the heart can increase its cardiac output

A

Increase HR
increase SV (inotropy)
Increase both

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25
In the Frank starling relationship, if the heart is failing what will happen to the curve
It will shift down
26
What does inotropy do to the frank starling curve?
shifts the curve up
27
what is cardiogenic shock
where the heart as a pump cannot meet circulatory demands
28
What are clinical signs of cardiogenic shock?
Poor forward flow - hypotension, shock, fatigue, syncope Back pressure - pulmonary oedema, elevated JVP, hepatic congestion
29
what is inotropy
A measure of the contractile state for any given preload Positive inotropy is an increase in force of cardiac contraction
30
How is positive inotropy achieved
The sympathetic nervous system Can be replicated with drugs - Dopaminergic stimulation using dobutamine, adrenaline
31
What is obstructive shock
Involves a physical obstruction to either the heart or great vessels, mainly affects the cardiac filling rather than cardiac ejection
32
Treatment of obstructive shock
Remove underlying cause: PE - anticoagulation +/- thrombolysis Cardiac tamponade - pericardial drainage Tension pneumothorax - decompression and chest drain
33
what is distributive shock?
The circuit is too big | caused by excessive vasodilation resulting in inadequate oxygen delivery and perfusion to organs
34
What are the 3 subtypes of distributive shock?
Septic - bacterial endotoxin mediated capillary dysfunction Anaphylactic shock - mast cell release of vasodilators Neurogenic shock - loss of thoracic sympathetic outflow following spinal injury
35
what do a rise in lactate levels suggest?
a marker of tissue hypoperfusion and shock
36
What are the 2 shockable cardiac arrest rhythms
Ventricular fibrillation | Pulseless Ventricular tachycardia
37
what are the 2 non - shockable cardiac arrest rhythms
Pulseless electrical activity | Asystole
38
what two categories can you split inherited cardiac conditions into?
Channelopathies | carddiomyopathies
39
Give some examples of channelopathies
``` Congenital long QT syndrome Brugada Catecholaminergic polymorphic ventricular tachycardia short QT familial Wolf parkinsons white Familial AF ```
40
Give some examples of cardiomyopathies
Hypertrophic cardiomyopathy Dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy
41
what is a channelopathy and a cardiomyopathy
Channelopathy - problem in the conduction system, usually associated with proteins, ion current imbalances Cardiomyopathy - problem with the heart muscle, can be caused by scarring
42
what are after depolarisations
Abnormal depolarisation of cardiac myocytes that interrupt the cardiac action potentials and can lead to triggered activity, occur in phase 2, 3, 4
43
What are early after depolarisations? | What can they result in?
Abnormal depolarisations which occur in phase 2 or 3 caused by an increase in frequency of AP Torsades de pointes
44
what arrhythmia is commonly seen in long QT syndrome
Torsades de pointes
45
what are delayed after depolarisations
These are depolarisations that begin during phase 4 after repolarisation has completed but before another action potential would normally occur.
46
what can cause delayed after depolarisations
elevated calcium concentrations | seen in digoxin toxicity
47
where is calcium ions stored and released from?
sarcoplasmic reticulum
48
what is a classic feature of delayed after depolarisations and what condition is it usually seen in?
Bidirectional ventricular tachy Catecholaminergic polymorphic ventricular tachycardia
49
what is the commonest (autosomal dominant) long QT syndrome?
Romano ward syndrome
50
Physiology of LQT syndrome
``` Defect in a channel protein Reduced or dysfunctional ionic current Prolonged cardiac repolarisation QT interval prolongation Polymorphic ventricular tachycardia (torsades) ```
51
what can trigger sudden cardiac death in someone with long QT
Exercise Emotional stress Sleep
52
what are some examples of QT prolonging drugs
amiodarone erythromycin haloperidol
53
what are the main arrythmias associated with brugada syndrome
polymorphic VT VF AF
54
what are ECG findings in brugadas
ST elevation RBBB in V1 - V3 often intermittent ECG findings and so can use provocative testing using flecainide (sodium blocker)
55
what inheritance pattern does brugada follow
``` Autosomal dominant (mainly men) ```
56
Brugada syndrome VF triggers
rest or sleep fever excessive alcohol, large meals
57
What drugs should be avoided in brugada
``` Anti - arrhythmics - sodium channel blockers Psychotropics Analgesics Anaesthetics ```
58
what is catecholaminergic polymorphic ventricular tachycardia
sensitivity of cardiac muscle to adrenaline which can be triggered by emotional stress or exercise
59
what will an ECG look like in someone with CPVT
normal at rest Can cause bidirectional tachycardia and polymorphic VT
60
Treatment in CPVT
``` beta blockers lifestyle changes (avoid competitive sports, stress) ICD implantation (who have had cardiac arrest) ```
61
what will be seen on an ECG in wolff parkinson white syndrome
Short PR interval Delta waves AF (maybe)
62
what causes Hypertrophic cardiomyopathy
mutation in sarcomeric genes
63
investigations for hypertrophic cardiomyopathy
doppler echo | 48hr ambulatory ECG
64
what is dilated cardiomyopathy
a type of heart muscle disease that causes the heart chambers to thin and stretch, growing larger
65
treatment of dilated cardiomyopathy
lower BP | flecainide - rhythm control drug
66
what is arrhythmogenic right ventricular cardiomyopathy
it is where cardiomyocytes is replaced by fibro fatty tissue
67
what inheritance pattern is arrhythmic right ventricular cardiomyopathy
Autosomal dominant - for desmosomal proteins Autosomal recessive - for nondesmosomal proteins
68
Treatment of arrhythmogenic right ventricular cardiomyopathy
Avoidance of competitive sports Beta blockers ICD implantation Amiodarone if not beta blockers
69
Diagnosis of inherited cardiac conditions
Clinical testing genetic testing family screening
70
what is the only known treatment for ventricular fibrillation, how does it work?
Defibrillation Resets all the cardiac myocytes to enable normal electrical activation to recommence Causes all cardiac myocytes to fully depolarise
71
what is a polymorphism
a variant that is prevalent in the general population. Often used to imply benign
72
how do you classify a variant
``` Class 1: definitely benign Class 2: probably benign Class 3: Variant of uncertain significance Class 4: Probably pathogenic Class 5: Definitely pathogenic ```
73
When would you use FISH
for translocation mutations
74
When would you use microarray CGH
To detect any missing or duplicated pieces of chromosome This is first line chromosome test
75
what is PCR used for
allows you to select one small piece of the human genome and amplify it
76
what is NGS
a high throughput method used to determine a portion of the nucleotide sequence of an individual genome
77
what pattern of inheritance causes dissecting aortic aneurysm
autosomal dominant
78
what is an aortic dissection
a condition in which a tear occurs into he inner layer of the aorta, blood rushes through the tear causing the inner/middle layers of the aorta to split
79
what is marfans syndrome caused by
fillibrin mutation | A disorder of the body's connective tissues
80
what is classed as a stillbirth
When a baby dies after 24 weeks of pregnancy and before or during birth
81
what is classed as a miscarriage
Loss of a baby before 24 weeks of pregnancy
82
Risk factors for stillbirths
``` Congenital abnormalities Cord prolapse maternal infections extremes of ages multiple pregnancies Medical complications - pre eclampsia ect. ```
83
What is some advice you should give to women to prevent the likelihood of a stillbirth
Sleep on side in third trimester Quitting smoking Staying healthy weight Avoid alcohol and drugs Take folic acid until end of first trimester Report any leaking fluid/discharge in pregnancy
84
In what instances should immediate delivery of baby be strongly advised?
Sepsis Eclampsia Placental abruption Membrane rupture
85
what is SUDI?
All infant deaths which happen suddenly for which there is no apparent reason, are unexpected
86
At what age do SUDI's mainly occur?
2 - 6 months
87
Risk factors for SUDI
``` Acute illness (URTI/otitis media) Preterm birth before 37 weeks Congenital anomaly Multiple birth Previous unexplained infant death Small for gestational age Male Sleeping prone or on side Co - sleeping sleeping with pillows Substance misuse in parents ```
88
What are the 5 stages of grief
``` Denial Anger Depression Bargaining Acceptance ```

Yr3 CLASP (2 decks)

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