Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics

Cardiac channelopathies, also known as primary electrical heart diseases, are inherited genetic abnormalities of cardiomyocyte electrical behavior. Notable for their absence of structural heart diseases, they include a diverse group of diseases such as long QT syndrome, short QT syndrome, Brugada syndrome, early repolarization syndrome, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation, and carry the risk of malignant arrhythmias leading to sudden cardiac death. The genetic and molecular foundations of these diseases are diverse and complex, with evolving research highlighting the multifactorial nature of their pathophysiology and the intricate interplay of various genes in the manifestation of arrhythmias. While advances in diagnostic techniques, such as genetic testing and electrophysiological studies, have improved the identification and management of these conditions, the relationship between specific genetic mutations and sudden cardiac death remains incompletely understood. This review provides an overview of the molecular and genetic mechanisms underlying those inherited arrhythmias, exploring both well-established and emerging data. Additionally, it discusses current diagnostic approaches and management strategies, aiming to enhance the understanding of these conditions and contribute to better sudden cardiac death prevention.