title: Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.
abstract: 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 Ca(2+) 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.
authors: Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri, Via Maugeri 10/10A, Pavia, Italy. silvia.priori@fsm.it
authors: Silvia G
authors: SG
authors: Priori
authors: S R Wayne
authors: SR
authors: Chen
mesh_terms: D002118:Calcium / Q000378:metabolism*; D002155:Calsequestrin / Q000235:genetics; D004644:Emotions / Q000502:physiology; D006801:Humans; D009154:Mutation / Q000235:genetics; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D012519:Sarcoplasmic Reticulum / Q000502:physiology*; D013315:Stress, Psychological / Q000503:physiopathology; D017180:Tachycardia, Ventricular / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology
chemical_list: C443109:CASQ2 protein, human; D002155:Calsequestrin; D019837:Ryanodine Receptor Calcium Release Channel; D002118:Calcium