The primary electrical disorders are a group of inherited cardiac ventricular arrhythmias that
are a major cause of sudden cardiac death in young individuals. Inherited ventricular …

The pacemaker cells of the cardiac sinoatrial node (SAN) are essential for normal cardiac
automaticity. Dysfunction in cardiac pacemaking results in human sinoatrial node …

The sarcoplasmatic reticulum (SR) cardiac ryanodine receptor/calcium release channel
RyR2 is an essential regulator of cardiac excitation–contraction coupling and intracellular …

Background: A loss-of-function cardiac ryanodine receptor (RyR2) mutation, I4855M+/–, has
recently been linked to a new cardiac disorder termed RyR2 Ca2+ release deficiency …

The sinoatrial node (SAN) is the primary pacemaker of the heart. Normal SAN function is
crucial in maintaining proper cardiac rhythm and contraction. Sinus node dysfunction (SND) …

Sudden cardiac death (SCD) in children is a devastating event, often linked to primary
electrical diseases (PED) of the heart. PEDs, often referred to as channelopathies, are a …

Catecholaminergic polymorphic ventricular tachycardia is a primary arrhythmogenic
syndrome with genetic features most commonly seen in adolescents, with syncope and …

Gain-of-function missense variants in the cardiac ryanodine receptor (RyR2) are linked to
catecholaminergic polymorphic ventricular tachycardia (CPVT), whereas RyR2 loss-of …

Ryanodine receptors (RyRs) are ion channels that mediate the release of Ca 2+ from the
sarcoplasmic reticulum/endoplasmic reticulum, mutations of which are implicated in a …

Inherited cardiac channelopathies are major causes of sudden cardiac death (SCD) in
young people. Genetic testing is focused on the identification of single-nucleotide variants …