Sudden Death Formative Assessment

Question 1

give 2 reasons why an AD mutation may present in only 1 member of the family

Answer 1

de-novo

mutation is low penetrance and some family members dont know if they have it

Question 2

if you know the mutation and want to test a family member what genetic testing should be done

Answer 2

PCR - dont need to test the whole genome

Question 3

Tx familial hypercholesterolaemia

Answer 3

statin

Question 4

why is brugada syndrome not an MI?

Answer 4

it has a wide QRS, MI doesnt

Question 5

drugs to avoid in brugada

Answer 5

Na channel blcokers
alpha agonists
calcium channel blockers

Question 6

Ix brugada syndrome

Answer 6

genetic testing

Question 7

diagnostic Ix for brugada syndrome

Answer 7

ajmaline testing using ECG

Question 8

immediate Tx long QT

Answer 8

stop qt prolonging drugs
correct hypomagnesia and hypokalaemia
initiate a beta blocker eg nadolol
eat ++ potassium

Question 9

Ix for suspected TIA from AF

Answer 9

1. ECHO

2. carotid doppler

Question 10

Tx carotid plaque induced stroke/TIA

Answer 10

antiplatelet eg aspirin

Question 11

Tx atrial thrombus induced stroke/TIA

Answer 11

anticoagulant eg warfarin or rivaroxaban