Genetics of cardiac electrical disease

Abstract

Few tragedies compare to the sudden death of a family member. Sadly, this may represent the first sign of a familial vulnerability to such events. One common cause is an inherited cardiac arrhythmia syndrome. Sufferers are prone to premature sudden cardiac death due to altered ion channel function in the heart. Typical causes include Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and the newly recognized early repolarization syndrome. Our knowledge of the genetic underpinnings of each of these disorders has increased markedly in recent years. Genetic screening is now a routine part of clinical care and promises more accurate diagnosis and efficient family screening. This review summarizes the diagnosis and management of each of the listed syndromes in the context of currently available genetic testing.