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Mutation-Specific Pharmacology of the Long QT Syndrome

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Basis and Treatment of Cardiac Arrhythmias

Part of the book series: Handbook of Experimental Pharmacology ((HEP,volume 171))

Abstract

The congenital long QT syndrome is a rare disease in which inherited mutations of genes coding for ion channel subunits, or channel interacting proteins, delay repolarization of the human ventricle and predispose mutation carriers to the risk of serious or fatal arrhythmias. Though a rare disorder, the longQT syndrome has provided invaluable insight from studies that have bridged clinical and pre-clinical (basic science) medicine. In this brief review, we summarize some of the key clinical and genetic characteristics of this disease and highlight novel findings about ion channel structure, function, and the causal relationship between channel dysfunction and human disease, that have come from investigations of this disorder.

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Authors and Affiliations

  1. Department of Pharmacology, Columbia University College of Physicians and Surgeons, New York, NY, 10032, USA

    R.S. Kass

  2. Heart Research Follow-up Program, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY, 14642, USA

    A.J. Moss

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Kass, R., Moss, A. (2006). Mutation-Specific Pharmacology of the Long QT Syndrome. In: Basis and Treatment of Cardiac Arrhythmias. Handbook of Experimental Pharmacology, vol 171. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-29715-4_11

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