Genetic mutation in aortic stenosis – Medicine MCQ

Which of the following genetic mutation has been described in aortic stenosis?
a) KCNH2
b) KCNQ1
c) NOTCH1
d) SCN5A

Correct answer: c) NOTCH1

NOTCH1 mutation can cause severe valvular calcification which can be transmitted in an autosomal dominant pattern. KCNH2 and KCNQ1 are potassium channel genes, mutations of which are seen in long QT syndrome. SCN5A is a sodium channel gene which is mutated in long QT 3 and Brugada syndrome.

Read more on the causes of aortic stenosis at: https://cardiophile.org/causes-of-aortic-stenosis/

Add a Comment

Your email address will not be published. Comments will be displayed only after moderation.

Read previous post:
complete heart block ECG
Feature of complete heart block on the ECG – Medicine MCQ

Which of the following is not a feature of complete heart block on the ECG: a) Constant RR interval b)...

Close