Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important
cause of mortality in the general population. Genetic studies conducted during the past 20 …

In this final of a 5-part Focus Seminar series on precision medicine, we focus on
catecholaminergic polymorphic ventricular tachycardia (CPVT). This focus on CPVT allows …

Stable calcium-induced calcium release (CICR) is critical for maintaining normal cellular
contraction during cardiac excitation-contraction coupling. The fundamental element of …

The ryanodine receptor (RyR2) has a critical role in controlling Ca2+ release from the
sarcoplasmic reticulum (SR) throughout the cardiac cycle. RyR2 protein has multiple …

Background—Catecholaminergic polymorphic ventricular tachycardia is an inherited
arrhythmogenic disorder characterized by sudden cardiac death in children. Drug therapy is …

Background: Calsequestrins (Casqs), comprising the Casq1 and Casq2 isoforms, buffer
Ca2+ and regulate its release in the sarcoplasmic reticulum of skeletal and cardiac muscle …

Background—The cardiac cytoskeleton plays key roles in maintaining myocyte structural
integrity in health and disease. In fact, human mutations in cardiac cytoskeletal elements are …

Gene therapy to treat electrical dysfunction of the heart is an appealing strategy because of
the limited therapeutic options available to manage the most-severe cardiac arrhythmias …

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inheritable cardiac
disorder associated with exercise-and stress-induced sudden death in young individuals …

Abstract Catecholaminergic Polymorphic Ventricular Tachycardia type 2 (CPVT2) is a highly
lethal recessive arrhythmogenic disease caused by mutations in the calsequestrin-2 …