Cardiac Genetics

Question 1

Which gene mutations commonly causes dilated cardiomyopathy?

Answer 1

Titin gene, LMNA gene

Question 2

What type of mutation causes type 1 and 2 long QT syndrome?

Answer 2

Loss of function mutation in cardiac potassium channel

Question 3

What type of mutation causes type 3 long QT syndrome?

Answer 3

Gain of function mutation in cardiac sodium channel

Question 4

What are the triggers for an event in type 1 long QT syndrome?

Answer 4

Physical activity, emotional stress

Question 5

What are the triggers for an event in type 2 long QT syndrome?

Answer 5

Rest and sleep

Question 6

Which gene mutation most commonly causes catecholamingeric polymorphic ventricular tachycardia?

Answer 6

RYR2 gene – a gain of function mutation in a cardiac calcium channel protein

Question 7

Which gene mutation causes brugada syndrome?

Answer 7

Loss of function mutation in SCN5A