How to perform and interpret provocative testing for the diagnosis of Brugada syndrome, long-QT syndrome, and catecholaminergic polymorphic ventricular tachycardia.

摘要

Sudden cardiac death (SCD) is predominantly related to coronary artery disease and its sequelae, cardiomyopathy, and congenital or valvular heart disease. No structural abnormalities are detectable in 5-8% of SCDs.Identified ion channelopathies such as Brugada syndrome, long-QT syndrome (LQTS), and catecholaminergic polymorphic ventricular tachycardia (CPVT) contribute to this incidence. The diagnosis requires a high level of suspicion because of a resting ECG that is often borderline, intermittently normal, or frankly normal. Genetic testing does not provide a simple solution to this issue, as it is often neither sensitive nor specific even when the phenotype points to a specific entity and may yield results that are difficult to interpret (ie, variants of unknown significance).