Inherited Dysfunction of Sarcoplasmic Reticulum Ca2+ Handling and Arrhythmogenesis

SG Priori, SRW Chen - Circulation research, 2011 - Am Heart Assoc
Circulation research, 2011Am Heart Assoc
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited
arrhythmogenic disease occurring in patients with a structurally normal heart: the disease is
characterized by life-threatening arrhythmias elicited by stress and emotion. In 2001, the
ryanodine receptor was identified as the gene that is linked to CPVT; shortly thereafter,
cardiac calsequestrin was implicated in the recessive form of the same disease. It became
clear that abnormalities in intracellular Ca2+ regulation could profoundly disrupt the …
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease occurring in patients with a structurally normal heart: the disease is characterized by life-threatening arrhythmias elicited by stress and emotion. In 2001, the ryanodine receptor was identified as the gene that is linked to CPVT; shortly thereafter, cardiac calsequestrin was implicated in the recessive form of the same disease. It became clear that abnormalities in intracellular Ca2+ regulation could profoundly disrupt the electrophysiological properties of the heart. In this article, we discuss the molecular basis of the disease and the pathophysiological mechanisms that are impacting clinical diagnosis and management of affected individuals. As of today, the interaction between basic scientists and clinicians to understand CPVT and identify new therapeutic strategies is one of the most compelling examples of the importance of translational research in cardiology.
Am Heart Assoc