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Congenital long QT syndrome type 3

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机构： [a]Department of Cardiology, Beijing An Zhen Hospital, Capital Medical University, 2 Anzhen Road, Beijing, 100029, China [b]Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Via Maugeri 10, Pavia, 27100, Italy [c]Cardiovascular Genetics, Leon Charney Division of Cardiology, New York University, 522 First Avenue, New York, NY 10016, United States [d]Department of Molecular Medicine, University of Pavia, Via Maugeri 10, Pavia, 27100, Italy

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关键词： Electrophysiology Genetics Ion channel Long QT syndrome Pharmacology Sodium

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Long QT syndrome type 3 (LQT3) is caused by mutations of the SCN5A gene encoding the α-subunit of the human cardiac sodium channel. Specific ST-T wave patterns, triggers, and risk for cardiac events are associated with this LQTS variant. Bench studies have gathered enough knowledge to devise gene-specific therapies to specifically counteract the effects of the mutations. In this article, the authors delineate the LQT3 pathophysiology and epidemiology. They also discuss the clinical management with a focus on the appropriate use of gene-specific therapy. © 2014 Elsevier Inc.

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