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Cardiovascular Arrhythmias > Genetics of Arrhythmias > Flashcards

Genetics of Arrhythmias Flashcards

1
Q

what is a channelopathy?

A

a pathology within the cardiac ion channels - affect sNa usually

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2
Q

give some examples of channelopathies, 7

A
  • Congenital long QT syndrome
  • Catecholaminergic polymorphic ventricular tachycardia
  • Short QT syndrome
  • Brugada syndrome
  • Progressive familial conduction disease
  • familial AF
  • Familial WPW
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3
Q

give some examples of cardiomyopathies, 3

A
  • Hypertrophic cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
  • dilated Cardiomyopathy
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4
Q

how do you make the diagnosis for arrhythmogenic inherited caridac conditions?

A
  • DNA retention for genetic post-mortem

- clinical and genetic testing of family members

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5
Q

it is not just the patient that needs to be treated - you need to_____ the whole family and may give ________ treatment

A

it is not just the patient that needs to be treated - you need to screen the whole family and may give prophylactic treatment

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6
Q

cascade screeening Produces a greater rate of case identification than _______ _______ screening

A

Produces a greater rate of case identification than general population screening

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7
Q

Once a diagnosis is confirmed in an individual, testing is extended to ___ degree and ____ degree relatives.

A

Once a diagnosis is confirmed in an individual, testing is extended to first degree and second degree relatives.

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8
Q

Polymorphic VT (Torsades de pointes) triggered by _______ stimulation is an example of a congenital ______

A

Polymorphic VT (Torsades de pointes) triggered by adrenergic stimulation is an example of a congenital LQTS

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9
Q

what do people with congenital LQTS present with (uncommonly though)

A
  • syncope 5%

- SCD in untreated LQTS 0.33-0.9%

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10
Q

there are ____ subtypes of LQTS

A

13

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11
Q

give an example of an autosomal dominant isolated LQT

A

romano-ward syndrome

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12
Q

give an example of an autosomal dominant LQT with extra cardiac features?

A

Anderson-Tawil Syndrome, Timothy syndrome

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13
Q

give an example of an autosomal recessive LQT with associated deafness

A

: Jervell and Lange-Nielsen syndrome

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14
Q

in LQTS there is a mutation causing a slower flow of ions such as ___- out of the heart

A

K

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15
Q

QT prolongation triggers _______ VT

A

polymorphic

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16
Q

LQTS diagnosed with either

  • QT >____ ms in repeated 12 lead ECG or
  • LQTS risk score >___
A

QTS diagnosed with either
QT >480 ms in repeated 12 lead ECG or
LQTS risk score >3

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17
Q

look at the schwarz score for the diagnosis of lQTS

A

LQTS is diagnosed in the presence of a confirmed pathogenic LQTS mutation, irrespective of QT duration

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18
Q

LQTS __ is the most common type of LQTS, what does the ECG show?

A

LQTS 1

ECG shows high T wave

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19
Q

what risk factors increased risk of SCD in LQTS?

A
  • age dependent
  • gender- more common in males (preadolescent) and females (adults)
  • increased QT duration
  • prior syncope and response to b blockers
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20
Q

what are the 2 broad management areas in LQTS?

A

risk stratification

treatment

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21
Q

how are the risks of LQTS avoided?

A
  • avoid QT prolonging drugs
  • correct electrolyte imbalances
  • avoid genotype specific triggers for arrhythmias
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22
Q

what is a genotype specific trigger in LQTS 1?

A

strenuous swimming

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23
Q

what is a genotype specific trigger in LQTS 2?

A

loud noises

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24
Q

what is a new oral therapy for LQTS?

A

long term oral K improves repolarisation with HERG mutations

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25
Q

what are the arrhythmias risks associated with brugada?

A

polymorphic VT and VF

AF

26
Q

if you see a young person with AF, this about _____syndrome

A

brugada

27
Q

what are the ECG features of brugada?

A

ST elevation and RBBB in V1-3

28
Q

ECG findings for brugada may be ____, change over time

A

ECG findings for brugada may be intermittent, change over time

29
Q

Diagnostic ECG changes for brugada may seen only with provocative testing with ______ or _____ (drugs that block the cardiac _____ channel)

A

Diagnostic ECG changes for brugada may seen only with provocative testing with flecainide or ajmaline (drugs that block the cardiac sodium channel)

30
Q

there are ___ associated genes for brugada?

A

12

31
Q

what are the two of the channles that may be affected?

A

Cardiac sodium channel (SCN5A) and calcium channel (CACN1Ac )

32
Q

brugada is predominantly Autosomal ________: causing faulty ___ channels

A

brugada is predominantly Autosomal dominant:

Na

33
Q

consider ____ ______disease in all with unexplained syncope

A

consider primary electrical disease in all with unexplained syncope

34
Q

how is brugada diagnosed?

A

ST elevation in one or more leads among the right precordial leas V1 and V2 occuring either spontaneoulsy r with drugs provoeked

35
Q

what triggers VF in brugada?

A
  • usually rest or sleep
  • fever
  • excessive alcohol, large meals
36
Q

what are the management areas for brugada?

A

risk stratification

ICD implantatins

37
Q

what triggers should be avoided in brugada?

A
  • avoidance of drugs that may induce ST SEGMENT ELEVATION (AADs, psychotropics, analgesics, anaesthetics)
  • avoidance of excessive alcohol and large meals
  • fever- antipyretics promptly used
38
Q

ICD is recommended in brugada people if: 2 things

A

they are survivors of CA

they have documenter spontaneous sustained VT

39
Q

what is catecholaminergic polymorphic VT?

A

Adrenergic induced bidirectional and polymorphic VT, SVTs, triggered by emotional stress, physical activity.

40
Q

what is the prevalence of CPVT?

A

1 in 1000

41
Q

what would be seen on ECG and ECHO for CPVT?

A

may be normal

42
Q

autosomal dominant CPVT shows a mutation in the ______ receptor

A

ryanodine type 2 channel

43
Q

what is the ryanodine receptor responsible for ?

A

Ca induced Ca release from the sarcoplasmic reticulum

44
Q

autosomal recessive CPVT shows a mutation in the ____ ______ gene (CASQ2)

A

cardiac calsequestrin

45
Q

what are the main areas of management for CPVT?

A

risk stratification

  • treatment
  • preventon
46
Q

what should be done to avoid risks for CPVT>

A
  • avoid competative sports

- avoid strenuous exercise and stressful environments

47
Q

what treatment should be considered for CPVT>

A
  • b blockers

- ICD - in addition to b blockers

48
Q

what are the indications for ICD in CPVT?

A
  • if had CA
  • recurrent syncope
  • polymorphic/ bidirectional VT despite optimal therapy
49
Q

what prevention should be used for CPVT and for who?

A

B blockers should be considered for genetically positive family members even after a negative exercise test

50
Q

when should flecainide be used for CPVT?

A
  • in addition to b blockers in those who experience episodes as above, when there are risks/contraindications for an ICD
  • in addition to b blockers in CPVT patients and carriers of an ICD to reduce appropriate ICD shocks
51
Q

what is arrhythmogenic right ventricular cardiomyopathy?

A

this is a fibro-fatty replacement of cardiomyocytes

52
Q

in ARVC there is LV involvement in >__% cases

A

50%

53
Q

in ARVC the autosomal dominant mutations are in the genes for _____ proteins

A

desmosomal

54
Q

in ARVC the autosomal recessive mutations are in the genes for _____ proteins

A

nondesmosomal

55
Q

what are the risk factors for SCD in ARVC? 7

A
  • family history of premature SCD
  • severity of RV and LV function
  • frequent non-sustained VVT
  • ECG: QRS prolongation
  • VT induction on EPS
  • male gender
  • Age of presentation
56
Q

what should be avoided in ARVC?

A

competitive sport

57
Q

what treatment should be used for ARVC patients with frequent PVC and NSVT?

A

b blockers at maximum tolerated dose

58
Q

when should ICD be used in ARVC?

A

for people with aborted SCD ad haemodynamically poorly tolerated VT

59
Q

when should amiodarone be sued in ARVC?

A

improves symtopms in PVC or NSVT who can’t have b blockers

60
Q

when should catheter ablation be used in ARVC?

A

for those who have frequent PVC orVT which is unresponsive to medical therapy

61
Q

what are some complications associated with transvenous leads for ICD implantation? 9

A 
Endocarditis
Perforation
Hemothorax
Pneumothorax
Thromboembolic events
Vascular complications
Lead fractures
Lead extraction complications
Lead dislodgement
62
Q

when venous access is difficult ______ ICD may be used

A

subcutaneous

Cardiovascular Arrhythmias (10 decks)

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