Cardiac disease and sudden death

Question 1

what is the prevalence of LQTS

Answer 1

1 in 2000

Question 2

what is the prevalence of HCM

Answer 2

1 in 500

Question 3

what is the prevalence of familial hypercholesterolaemia

Answer 3

1 in 500

Question 4

familial hypercholesterolaemia has mutations in what

Answer 4

LDLR
APOB
PCSK9

Question 5

what is the best genetic test for multifactorial heart disease

Answer 5

blood cholesterol

Question 6

what is sudden cardiac death

Answer 6

non-traumatic, non-violent, unexpected death that results from sudden cardiac arrest within 6 hours of previously witnessed normal health

Question 7

bilateral diagonal earlobe creases and arcus senilis are signs of what

Answer 7

hyperlipidaemia

Question 8

how does fat appear under the microscope

Answer 8

clear

Question 9

blue bag when chest is open implies what

Answer 9

pericardium filled with blood

Question 10

channelopathies are related to an imbalance in what

Answer 10

ion current

Question 11

what is LQTS

Answer 11

inherited cardiac condition associated with delayed repolarisation of the ventricles

Question 12

what can LQTS lead to

Answer 12

polymorphic VT (torsades de pointes)

Question 13

what causes LQTS to go to TdP

Answer 13

adrenergic stimulation

Question 14

what causes LQTS

Answer 14

defects in the alpha subunit of the slow delayed rectifier potassium channel

Question 15

what is the inheritance of LQTS

Answer 15

AD or AR

Question 16

AD LQTS is associated with _______

name 3 of these types

Answer 16

extracardiac features

• Anderson-Tawil syndrome
• Timothy syndrome
• Romano Ward

Question 17

AR LQTS is associated with ______

name this type

Answer 17

deafness

- Jervell and Lange-Neillson syndrome

Question 18

what score is used to determine likelihood of having it

Answer 18

Schwartz score

Question 19

what risk management strategies can someone with LQTS take

Answer 19

avoid prescription of drugs which prolong QT interval
avoid sudden surges of exercise (LQTS1)
avoid loud noise e.g. alarm clock (LQTS2)
avoid becoming unwell

Question 20

name some drugs that prolong QT and so should be avoided

Answer 20

• erythromycin / clarithromycin
• amiodarone, sotalol, class 1a antiarrhythmic drugs
• tricyclic antidepressants, selective serotonin reuptake inhibitors (especially citalopram)

Question 21

how is LQTS treated

Answer 21

avoid risks 
beta blockers (although sotalol may worsen)
ICD in severe

Question 22

brugada syndrome is a problem with

Answer 22

sodium channels

Question 23

what is the inheritance of brugada syndrome

Answer 23

AD

Question 24

brugada syndrome is more common in men/women

Answer 24

men

Question 25

what arrhythmias are seen in brugada syndrome

Answer 25

AF is common | risk of VF/VT

Question 26

what gene mutations are assoc with brugada syndrome

Answer 26

SCN5A (cardiac sodium channel) | CACN1AC (cardiac calcium channel)

Question 27

brugada syndrome ECG changes may only be seen with provocative testing with

Answer 27

flecainide or ajmaline

Question 28

what are some triggers for VF in brugada syndrome

Answer 28

rest or sleep fever excess alcohol or large meals

Question 29

the genotype and family history doesnt influence prognosis. what does this mean

Answer 29

family member dying of it doesnt make it more likely than another family member will die from it

Question 30

what are some risk management strategies with brugada syndrome

Answer 30

avoid drugs that might increase ST elevation early paracetamol in fever avoid excess alcohol or food

Question 31

what is the management of brugada syndrome

Answer 31

ICD

Question 32

what is a condition that is very rare with a very high risk of arrhythmia and people with it usually die in early childhood

Answer 32

short QT syndrome

Question 33

short QT syndrome is due to mutation in what channels

Answer 33

K+

Question 34

what is CPVT

Answer 34

catecholaminergic polymorphic ventricular tachycardia | - adrenergic induced bidirectional and polymorphic VTs and SVTs

Question 35

what is the inheritance of CPVT

Answer 35

AD

Question 36

CPVT is a problem with what

Answer 36

ranitidine receptor

Question 37

what arrhythmias are seen in CPVT

Answer 37

polymorphic VT | SVTs

Question 38

what is the prevalence of CPVT

Answer 38

1 in 10,000

Question 39

what would an ECG/echo of CPVT look like

Answer 39

normal

Question 40

what is the treatment of CPVT

Answer 40

high dose BB and ICD | sometimes treat with flecainide

Question 41

what triggers the arrhythmias in CPVT

Answer 41

emotional stress, physical activity

Question 42

people with CPVT should avoid

Answer 42

competitive sports

Question 43

what causes WPW

Answer 43

accessory pathway from atria to ventricles bypassing the AV node leading to atrioventricular re-entry tachycardia (AVRT)

Question 44

what can AF progress to in WPW and why

Answer 44

VF - no slowing down of conduction through accessory pathway

Question 45

how is WPW diagnosed

Answer 45

on treadmill to see if they can still conduct at maximum HR

Question 46

how does HCM present

Answer 46

HF or sudden death

Question 47

when should you consider an ICD in HCM

Answer 47

risk of sudden death > 4%

Question 48

people with HCM should avoid

Answer 48

competitive sport

Question 49

where does the problem lie with HCM

Answer 49

output difficulty due to huge mass of muscle

Question 50

the mutation is in what genes in HCM

Answer 50

sarcomeric

Question 51

DCM is more common in males/females

Answer 51

males

Question 52

what is the inheritance of HCM

Answer 52

AD

Question 53

what is the inheritance of DCM

Answer 53

AD

Question 54

what happens in DCM

Answer 54

slowly over time the heart muscles dilate and scar leading to rhythm problem

Question 55

what is ARVC

Answer 55

arrhythmogenic right ventricular cardiomyopathy | - fibro-fatty replacement of cardio myocytes

Question 56

what is the inheritance of ARVC

Answer 56

AD but can be AR

Question 57

is ARVC easy or difficult to treat

Answer 57

difficult

Question 58

how is ARVC treated

Answer 58

ICD and BB (sotalol)

Question 59

people with ARVC should avoid

Answer 59

competitive sports

Question 60

what kind of screening is important with inherited cardiac conditions

Answer 60

familial (cascade) screening

Question 61

where do the 2 leads of an ICD go

Answer 61

one to right ventricle | one to right atrium

Question 62

what is the risk of death when taking out leads of an ICD

Answer 62

1 in 100

Question 63

what are some complications of an ICD

Answer 63

endocarditis, perforation, haemothorax, pneumothorax, embolism, leads can break or move or deliver shock when not required

Question 64

what is an after depolarisation

Answer 64

abnormal depolarisation of cardiac myocytes

Question 65

EADs cause

Answer 65

TdP

Question 66

what is automaticity

Answer 66

SA node fires generating a heart beat without any external stimulus