Catecholaminergic Polymorphic Ventricular Tachycardia from Bedside to Bench and Beyond |
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| Authors: | Guy Katz Michael Arad Michael Eldar |
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| Institution: | 2. St Jude Medical Corporation, St. Paul, Minnesota;2. Cardiovascular Institutes, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania;3. Department of Pharmacology, University of Rhode Island, Kingston, Rhode Island;4. Case Western Reserve University, School of Medicine, Cleveland, Ohio;5. Department of Comparative Medicine, Pennsylvania State University College of Medicine, Hershey, Pennsylvania;1. Cardiology, Department of Internal Medicine, American University of Beirut Faculty of Medicine and Medical Center, PO Box 11-0236, Riad El-Solh, Beirut 1107 2020, Lebanon;2. Department of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut, Lebanon;3. Division of Cardiology, Department of Medicine, University of California San Francisco Medical Center, San Francisco, CA, USA;2. The Heart Centre, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands;3. The Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, King Saud University, Jeddah, Kingdom of Saudi Arabia;2. Division of Cardiology, Cardiovascular Research Center, Rhode Island Hospital, Alpert Medical School of Brown University, Providence, Rhode Island |
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| Abstract: | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a primary electrical myocardial disease characterized by exercise- and stress-related ventricular tachycardia manifested as syncope and sudden death. The disease has a heterogeneous genetic basis, with mutations in the cardiac Ryanodine Receptor channel (RyR2) gene accounting for an autosomal-dominant form (CPVT1) in approximately 50% and mutations in the cardiac calsequestrin gene (CASQ2) accounting for an autosomal-recessive form (CPVT2) in up to 2% of CPVT cases. Both RyR2 and calsequestrin are important participants in the cardiac cellular calcium homeostasis.We review the physiology of the cardiac calcium homeostasis, including the cardiac excitation contraction coupling and myocyte calcium cycling. The pathophysiology of cardiac arrhythmias related to myocyte calcium handling and the effects of different modulators are discussed.The putative derangements in myocyte calcium homeostasis responsible for CPVT, as well as the clinical manifestations and therapeutic options available, are described. |
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