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Y3 CLASP > Sudden Death > Flashcards

Sudden Death Flashcards

1
Q

What is penetrance?

A

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

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2
Q

Are Mendelian disorders high or low penetrance?

A

High

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3
Q

What is a promoter region?

A

Base sequence which starts transcription

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4
Q

What is a stop codon? What will an error cause?

A

Sequence of bases which stops transcription.
Premature stop - smaller mutant protein
Late stop - larger mutant protein

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5
Q

What is splicing?

A

Removal of introns from mRNA

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6
Q

What is the effect of a deletion or insertion mutation?

A

Frameshift mutation

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7
Q

How is Next Generation Sequencing done?

A

gDNA
Parallel sequencing - broken into pieces then sequenced
Alignment - lined up against reference
Sequence

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8
Q

What is coverage in NGS?

A

Number of times one part of a gene is sequenced

98% coverage is good

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9
Q

What can genetic changes found in NGS be?

A

Disease-causing mutation
Polymorphism (3 million in genome)
Variant of Unknown Significance

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10
Q

How do you calculate QR interval?

A

QT interval/square root R-R interval

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11
Q

What does long-QT increase the risk of?

A

Torsades de pointes

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12
Q

Name signs of hypovolaemic shock

What is the management?

A

Tachycardia
Skin cool and pale
Mx - fluid and blood replacement

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13
Q

Name signs of cardiogenic shock

What is the management?

A

Swollen, oedematous skin

Mx - careful fluid management, inotropes (dobutamine), vasopressors (adrenaline)

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14
Q

Name signs of septic shock

What is the management?

A

Skin flushed and warm then cool and pale
Pyrexia
Mx - SEPSIS 6, vasopressor (NA) if unresponsive to fluid

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15
Q

Name signs of anaphylactic shock

What is the management?

A

Urticarial rash

Mx - adrenaline, IV fluids

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16
Q

Name signs of neurogenic shock

What is the management?

A

Skin vasodilatated below lesion

Mx - vasopressors

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17
Q

Name reversible causes of cardiac arrest

A 
Hypoxia
Hypothermia
Hypovolaemia
Hyperkalaemia/metabolic
Thrombosis (PE)
Tamponade
Tension pneumothorax
Toxins
18
Q

In which rhythms can defibrillation be used?

What is the management?

A

VF
Pulseless VT
Shock, CPR 2 mins, 2nd shock, CPR 2 mins, 3rd shock, CPR 2 mins AND adrenaline 1mg, amiodarome 300mg IV

19
Q

Which rhythms are non-shockable?

What is the management?

A

Asystole
Pulseless electrical activity
CPR with 1mg adrenaline IV every 3-5 mins

20
Q

What are mechanisms of congenital long-QT syndrome?

A

Isolated LQT Roman-Ward Syndrome - most common

K+ channel mutation

21
Q

How is LQTS diagnosed?

A

QT>/480ms in repeated ECGS
OR LQTS risk score >3
OR pathogenic mutation

22
Q

What is the management of Long QT Syndrome?

A 
B-blockers
Avoid QT-prolonging drugs
Correct electrolyte abnormalities
Avoid genotype-specific triggers
- LQTS1 - strenuous swimming
- LQTS2 - loud noises
23
Q

List QT-prolonging drugs

A

Clarythromycin, azithromycin, erythromycin
Anaesthetic drugs
Tricyclic antidepressants
Neuroleptics

24
Q

How is short QT syndrome diagnosed?

What is the pathogenesis?

A

QT interval <300ms
K+ channel mutation
Young children - very malignant

25
Q

What are ECG features of Brugada syndrome?

A

ST elevation and RBBB in V1-3

26
Q

What are people with Brugada syndrome at risk of?

A

AF
Polymorphic VT
VF

27
Q

What are triggers of decompensation in Brugada syndrome?

A

Sleep
Fever
Excess alcohol
Large meals

28
Q

How is Brugada syndrome managed?

A

Avoid drugs causing ST elevation - Na blockers, anaesthetics
Hospital admission if fever
High risk ECG - ICD

29
Q

What is the pathogenesis in Brugada syndrome?

A

Often AD mutation in Na channel

Inefficient depolarisation predisposes to arrhythmias

30
Q

What is the mutation in Catecholaminergic Polymorphic VT? (CPVT)

A

Ryanodine receptor mutation - RyR2

AD

31
Q

What are features of catecholaminergic polymorphic VT?

A 
Normal resting ECG
Adrenaline trigger (emotional stress, strenuous exercise, competitive sport) --> bidirectional VT
32
Q

What is the management of CPVT?

A

B-blocker. avoidance of triggers

In VT - anaesthetise and defibrillate

33
Q

What is the pathogenesis of Wolf-Parkinson-White syndrome? (WPW)

A

Accessory pathway –> ventricular re-excitiation

AV re-entrant tachycardia - SVT, AF

34
Q

What are ECG signs of WPW?

A

Delta sign

35
Q

What is the gene mutation in Hypertrophic Cardiomyopathy? (HOCM)

A

Mutation in sarcomeric genes

36
Q

What are ECG features of LVH?

A

> 7 big boxes positive deflection in V5 plus negative deflection in V2

37
Q

How do people with HOCM present?

A

Sudden death
Heart failure
AF

38
Q

What is the management of HOCM?

A

Hx cardiac arrest or VT - ICD
FHx SCD, LV>3cm, unexplained recent syncope - ICD
5y risk SCD >5% - ICD
Avoid competitive sports

39
Q

What is the gene mutation in arrhythmogenic right ventricular cardiomyopathy? (ARVC)

A

AD mutation in desmosomal genes

Structural problem with RV –> replacement myocytes with fibrofatty tissue –> scar –> re-entrant tachycardia

40
Q

What increases risk in ARVC?

A

FHx SCD
Severity RV and LV function
Frequent non-sustained VT
Younger age

41
Q

How is ARVC managed?

A

Avoid competitive sports
B-blockers - sotalol
Hx poorly tolerated VD/cardiac death - ICD

42
Q

What are complications of an ICD?

A 
Endocarditis
Perforation
Haemothorax
Pneumothorax
Thrombolic event
Vascular complications
Lead - fractures, extraction complications, dislodgement

Y3 CLASP (2 decks)

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