Genetic testing in chanelopathies and cardioM

Question 1

Familial AF. Problem with?

Answer 1

K channel

Question 2

Brugada problem with?

Answer 2

Decrease in Na channel function

Question 3

LQT1 problem with?

Answer 3

K channel decrease function

Question 4

LQT2 problem with?

Answer 4

K channel decrease function

Question 5

LQT3 problem with?

Answer 5

Na channel gain in function

Question 6

LQT1 die when? (gene ends in number 1)

Answer 6

Swimming

Exertion

Question 7

LQT2 die when? (gene ends in number 2)

Answer 7

Auditory triggers

Post partum

Question 8

LQT3 die when? (gene ends in number 5)

Answer 8

Sleep

Rest

Question 9

Beta blockers good or bad in LQT?

Answer 9

GOOD- especially 1, still 2, less 3

For 3 Mexiletine good

Question 10

Does every long QT have it on ECG?

Answer 10

A third have normal QT

Question 11

Who are the highest risk LQTs?

Answer 11

Over 500 and LQT1,2, male LQT3

Question 12

Types of brugada - how useful?

Answer 12

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

Question 13

Gene in brugada in 20-30%

Answer 13

SCN5A

Question 14

Gene in CPVT

Answer 14

50-60% Ryanodine receptor 2 protein from RYR2 gene

Question 15

HCM most common gene involved?

Answer 15

beta myosin heavy chain
also cardiac myosin binding protein C

each 25-35%

Question 16

Do you check in DCM?

Answer 16

If conduction disease or FH unexplained death

LMNA and SCN5A

Question 17

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

Answer 17

LQTs

Question 18

HOCM echo see what?

Answer 18

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

+/- LVOT obstruction

Question 19

HOCM most sensitive test

Answer 19

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

Question 20

What murmur in HOCM?

Answer 20

MR almost universal if onstructive

Question 21

Auscult changes with squat and stand to murmur HOCM

Answer 21

Stand increase

Squat decrease

Question 22

B blockers yes or no in HOCM?

Answer 22

Yes! For all!

Avoid dig and diuresis (TWO Ds)

Question 23

3 biggest RF SCD in HOCM?

Answer 23

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

Question 24

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

Answer 24

RA, SLE, sarcoid

PAN, UC, GCA

Question 25

What meds can cause an effusion?

Answer 25

Amiodarone Hydralazine Penicillin Doxyrubicin

Question 26

Chest pain with pericarditis?

Answer 26

Worse lying down

Question 27

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

Answer 27

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

Question 28

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

Answer 28

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

Question 29

In MI pericarditis, what to use?

Answer 29

NOT nsaids as increase wall rupture | use high dose aspirin

Question 30

Treatment for pericarditis?

Answer 30

NSAIDs and colchicine Steroids if not responding NOT EVER pericardiectomy

Question 31

ECG in effusion

Answer 31

electrical alternans | QRS low voltage

Question 32

Becks triad

Answer 32

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

Question 33

TTE findings in tamponade vs constrictive pericarditis

Answer 33

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

Question 34

Manage tamponade?

Answer 34

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.

Question 35

Pericardial knock?

Answer 35

Chronic constrictive pericarditis

Question 36

Y descent changes in tamponade vs constrictive

Answer 36

attenuated in tamponade | accentuated in constrictive

Question 37

Do you see pulmonary congestion in chronic constrictive pericarditis?

Answer 37

NO!

Question 38

Treat chronic constrictive pericarditis/

Answer 38

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

Question 39

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

Answer 39

Massive differences L and R heart with resp in constrictive Concordant in restrictive

Question 40

Aortoiliac PVD--> Superficial femoral PVD--> Popliteal PVD-->

Answer 40

gluteal upper calf lower calf pain

Question 41

ABI calculation?

Answer 41

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

Question 42

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

Answer 42

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

Question 43

Should you give aspirin to PVD people?

Answer 43

22% reduction in CV event if give aspirin

Question 44

Kussmauls sign in vs Pulsus paradoxus sign in?

Answer 44

Kussmaul in RA infarct or pericardial tamponade or acute MI right heart Pulsus paradoxus in bad resp attacks, tamponade, constrictive pericarditis

Question 45

Do you put in a defib for WPW?

Answer 45

No!

Question 46

HOCM increase with valsalva or decrease?

Answer 46

INCREASE

Question 47

HOCM findings echo- MR SAM ASH

Answer 47

MR systolic anterior motion asymmetric septal hypertrophy

Question 48

Arrhythmogenic RV dysplasia classic ECG finding

Answer 48

terminal notch in the ECG called an epsilon wave

Question 49

Treatment ARVD

Answer 49

Sotalol Catheter ablation to stop VT ICD

Question 50

AVoid in WPW? two drugs

Answer 50

verapamil and digoxin might cause VT!