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/