Inherited arrhythmia syndromes - Cardiogenetics

Abstract

The inherited arrhythmia syndromes long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia are rare cardiac channelopathies associated with a higher risk for malignant arrhythmias and sudden cardiac death. Adequate and timely clinical management of patients remains a challenge and is often based on expert opinions and (small) cohort studies. Particularly, identification of high-risk patients continues to be difficult due to limitations in diagnostic tools and risk prediction models. Importantly, underlying causes determining the large variability in disease severity, even within families, are still unknown. A combination of rare variants in causal genes associated with the arrhythmia syndromes, non-genetic factors (i.e. age, sex) and genetic modifiers (i.e. single nucleotide polymorphisms) are thought to be of influence on the clinical phenotype and variability. Although, our knowledge regarding these rare arrhythmia syndromes has grown over the past decades, there are still gaps in knowledge that remain to be elucidated. In this review, we aim to provide an overview of the current knowledge and guidance for the clinical management of the three main arrhythmia syndromes.