Cardiology>>>>>Genetics, Lipids And Tumours
Question 9#

You see a family in clinic who have a dominantly inherited SCN5A (cardiac sodium channel) mutation.

Which one of the following cardiac problems would you not expect to be due to this?

A. Brugada syndrome
B. Long QT syndrome
C. Atrial fibrillation
D. Sick sinus syndrome
E. Catecholaminergic paroxysmal ventricular tachycardia

Correct Answer is E

Comment:

SCN5A, the cardiac sodium channel, is associated with a broad range of conduction and arrhythmic disorders including long QT syndrome, Brugada syndrome, familial AF, and sick sinus syndrome. Catecholaminergic paroxysmal ventricular tachycardia is due to mutations in the cardiac ryanodine receptor, and recessively CASQ, which affect calcium release from the sarcoplasmic reticulum.