Quiz Channelopathies

Which of the following statement(s) regarding LQTS is wrong:

In an asymptomatic patient with disease- causing gene variant without QT prolongation, b blocker should be considered.

Mexiletine may be used in the treatment of LQTS2 and LQTS3.

Jervell and Lange–Nielsen Syndrome, is inherited in an autosomal dominant pattern.

LQTS2 female patients are at high risk during the postpartum period.

Regarding calmodulinopathies, which statement is wrong:

The prevalent phenotypes in CALM variant–positive subjects are LQTS (CALM-LQTS) and CPVT (CALM-CPVT).

Cardiac structural abnormalities, either cardiomyopathy or congenital heart defects, are present in 30% of patients, mainly CALM-LQTS.

Calmodulin has the unique feature of being encoded by 3 genes in 3 different chromosomes, all characterized by their extreme conservation among vertebrates.

Calmodulinopathies are never associated with neurological manifestations.

Which of the following statement(s) regarding channelopathies is true? (mark all the correct answers)

According to recent data, among patients with congenital SQTS, a QTc shorter than 320 ms correlates with a higher arrhythmic risk.

SQTS has been associated with loss of function gene variants in KCNH2, KCNQ1 and KCNJ2.

QT prolongation is mandatory to establish the diagnosis of Andersen Tawil Syndrome (ATS).

Flecainide may be used in ATS to reduce ventricular arrhythmias.

Which of the following genes is implicated in the recently described Calcium Release Deficiency Syndrome?

CACNA1C

RYR2

CALM 1-3

CASQ2

Regarding Brugada syndrome (BrS), which of the following is wrong?

Gene positive- phenotype negative asymptomatic patients are recommended to have a high- lead ECG when they have fever.

There is evidence that patients with BrS present in some cases an abnormal fibrotic arrhythmogenic substrate in the epicardial RVOT.

Quinidine may be used in patients with BrS who have recurrent ICD shocks.

Amiodarone is the drug of choice in BrS patients suffering electrical storm.