Inherited arrhythmias: LQTS/SQTS/CPVT

Abstract

"Inherited Arrhythmias" or "channelopathies" are familial disorders caused by mutations in genes coding for channel-proteins that control the electrical activity of the heart. These mutations predispose affected individuals to the development of life-threatening ventricular arrhythmias (polymorphic ventricular tachycardia/ ventricular fibrillation) either by altering the fine-tuned equilibrium of ionic currents in the cardiac action potential, or by disrupting the electromechanical coupling in cardiomyocytes. Channelopathies are dangerous conditions, accounting for up to one third of sudden deaths in young individuals with a structurally "normal" heart. Every time an inherited arrhythmia syndrome is diagnosed in a patient, his/her family members may be predisposed to the same potentially lethal arrhythmias. If a timely diagnosis is reached, however, simple and efficacious preventive measures may be applied in most cases. Genetic information plays a pivotal role for the diagnosis of inherited arrhythmias and may help in the clinical management of patients and their relatives.