Provocative (Drug) testing in inherited arrhythmias

Molecular genetic studies have established a link between a number of heritable channelopathies, including congenital long QT syndrome (LQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT), and mutations in genes encoding for ion channels or other membrane components, therefore, have become a golden standard for diagnosing these channelopathies. Clinical diagnosis by standard 12-lead electrocardiography (ECG) at baseline misses some patients, who are genetically affected by these channelopathies (so called concealed form). Therefore, there is a strong need to devise clinical tools to improve the sensitivity of clinical tests to establish the diagnosis of these heritable channelopathies. Provocative testing with catecholamines and pharmacologic testing with sodium channel blockers are critical diagnostic tests in the evaluation of these heritable channelopathies and enable to unmask LQTS, BrS, and CPVT in their concealed state.