Abstract
IInherited arrhythmic syndromes, also known as cardiac channelopathies, are group of cardiac electrophysiological disorders characterized by a specific pattern on electrocardiogram and a disease specific risk for malignant ventricular arrhythmias. This group includes long QT syndrome (LQT), short QT syndrome (SQT), catecholaminerg polymorphic ventricular tachycardia (CPVT) and a sodium channelopathies (SCN5A) like Brugada syndrome, progressive cardiac conduction disease (PCCD) etc.
Channelopathies manifest mostly in form of syncopes, epileptic seizures or sudden cardiac death. Most types of cardiac channelopathies are inherited in autosomal dominant pattern, autosomal recessive variants are rare and associated with a severe course of the disease.
In some cases arrhythmic syndromes overlap arrhythmic cardiomyopathies, which are mainly caused by disorders in desmosomal proteins. The genetic stratification allows in many cases installation of individualized therapy and presymptomatic treatment of mutation carriers, who are at risk of malignant arrhythmias.
The proper clinical diagnosis, genetic analysis and long-term treatment demand multidisciplinary approach and close cooperation among pediatric and adult cardiologists, geneticist, molecular geneticist, psychologists, sport and forensic medicine professionals.