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Cards > Genetic testing in chanelopathies and cardioM > Flashcards

Genetic testing in chanelopathies and cardioM Flashcards

1
Q

Familial AF. Problem with?

A

K channel

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2
Q

Brugada problem with?

A

Decrease in Na channel function

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3
Q

LQT1 problem with?

A

K channel decrease function

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4
Q

LQT2 problem with?

A

K channel decrease function

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5
Q

LQT3 problem with?

A

Na channel gain in function

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6
Q

LQT1 die when? (gene ends in number 1)

A

Swimming

Exertion

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7
Q

LQT2 die when? (gene ends in number 2)

A

Auditory triggers

Post partum

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8
Q

LQT3 die when? (gene ends in number 5)

A

Sleep

Rest

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9
Q

Beta blockers good or bad in LQT?

A

GOOD- especially 1, still 2, less 3

For 3 Mexiletine good

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10
Q

Does every long QT have it on ECG?

A

A third have normal QT

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11
Q

Who are the highest risk LQTs?

A

Over 500 and LQT1,2, male LQT3

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12
Q

Types of brugada - how useful?

A

If type 1 then diagnostic

If type 2 then need provocative testing with flecanide to diagnose. CANT DO GENETIC TESTING on type 2 or 3

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13
Q

Gene in brugada in 20-30%

A

SCN5A

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14
Q

Gene in CPVT

A

50-60% Ryanodine receptor 2 protein from RYR2 gene

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15
Q

HCM most common gene involved?

A

beta myosin heavy chain
also cardiac myosin binding protein C

each 25-35%

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16
Q

Do you check in DCM?

A

If conduction disease or FH unexplained death

LMNA and SCN5A

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17
Q

If you do an autopsy on hearts that are morphologically normal what will be the most likely chanelopathy to find?

A

LQTs

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18
Q

HOCM echo see what?

A

Depends on type but classically asymmetrical septal hypertrophy- septum:posterior wall >1.5

+/- LVOT obstruction

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19
Q

HOCM most sensitive test

A

ECG
But not enough for dx
Echo can miss apical changes sometimes.

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20
Q

What murmur in HOCM?

A

MR almost universal if onstructive

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21
Q

Auscult changes with squat and stand to murmur HOCM

A

Stand increase

Squat decrease

22
Q

B blockers yes or no in HOCM?

A

Yes! For all!

Avoid dig and diuresis (TWO Ds)

23
Q

3 biggest RF SCD in HOCM?

A

Septum over 2.5-3cm
FH sudden cardiac death
NSVT in adults

24
Q

Which “autoimmune” type things cause pericarditis +/- effusion?

A

RA, SLE, sarcoid

PAN, UC, GCA

25
Q

What meds can cause an effusion?

A

Amiodarone
Hydralazine
Penicillin
Doxyrubicin

26
Q

Chest pain with pericarditis?

A

Worse lying down

27
Q

How do you tell early repolarisation from ST elevation in pericarditis?

A

ST up more than a quarter of the T wave in V6

28
Q

When is it ok to manage an effusion as an outpatient?

A

Under 1cm, no myocarditis (CCF type, increase cardiac markers), no tamponade, trauma or malignancy, pyogenic infection, coagulopathy

29
Q

In MI pericarditis, what to use?

A

NOT nsaids as increase wall rupture

use high dose aspirin

30
Q

Treatment for pericarditis?

A

NSAIDs and colchicine
Steroids if not responding
NOT EVER pericardiectomy

31
Q

ECG in effusion

A

electrical alternans

QRS low voltage

32
Q

Becks triad

A

Muffled heart sounds
Raised JVP (with attenuated Y descent)
Hypotension

Other tamponade signs

  • pulsus paradoxus
  • NOT kussmauls sign (absence of insp decline in JVP)
  • hypotension if acute
  • sinus tachycardia
  • Dullness L scapula
33
Q

TTE findings in tamponade

vs

constrictive pericarditis

A

1 Respiratory collapse of RA or RV wall
2 Distended IVC
3 Accentuated resp fluctuations in peak transvalvular velocities

vs

  1. IVC inspiratory collapse
  2. on right heart cath equalisation of DIASTOLIC pressures PA, cardiac chambers
34
Q

Manage tamponade?

A

If not compromised, observe with serial followup

If hypotension, aggressive fluid resus, vasopressors, may need inotropes. Drain or surgery. Draining a dissection will just make it worse. Need surgery.

35
Q

Pericardial knock?

A

Chronic constrictive pericarditis

36
Q

Y descent changes in tamponade vs constrictive

A

attenuated in tamponade

accentuated in constrictive

37
Q

Do you see pulmonary congestion in chronic constrictive pericarditis?

A

NO!

38
Q

Treat chronic constrictive pericarditis/

A

If TB- treat TB and will resolve
Avoid over rate control AF
Diuresis careful

Pericardiectomy if NYHA II or III- NO immed improvement
Quite high risk

39
Q

In constrictive pericarditis, what happens with systolic pressure changes with resp cycle

A

Massive differences L and R heart with resp in constrictive

Concordant in restrictive

40
Q

Aortoiliac PVD–>
Superficial femoral PVD–>
Popliteal PVD–>

A

gluteal
upper calf
lower calf pain

41
Q

ABI calculation?

A

Highest ankle pressure before occluding DP and PT DIVIDED by highest brachial pressure on either arm

less than 0.9 PAD
less than 0.4 severe PAD
ABI over 1.4- calcified vessels not interpretable so get toe brachial index instead, for which cut off is 0.7mOR great toe systolic 40 is normal

42
Q

What should you do if ABI ok but high level suspicion?

A

do an exercise test to look for 20% drop in ABI

43
Q

Should you give aspirin to PVD people?

A

22% reduction in CV event if give aspirin

44
Q

Kussmauls sign in vs Pulsus paradoxus sign in?

A

Kussmaul in RA infarct or pericardial tamponade or acute MI right heart

Pulsus paradoxus in bad resp attacks, tamponade, constrictive pericarditis

45
Q

Do you put in a defib for WPW?

A

No!

46
Q

HOCM increase with valsalva or decrease?

A

INCREASE

47
Q

HOCM findings echo- MR SAM ASH

A

MR
systolic anterior motion
asymmetric septal hypertrophy

48
Q

Arrhythmogenic RV dysplasia classic ECG finding

A

terminal notch in the ECG called an epsilon wave

49
Q

Treatment ARVD

A

Sotalol
Catheter ablation to stop VT
ICD

50
Q

AVoid in WPW? two drugs

A

verapamil and digoxin

might cause VT!

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