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  PROGRESS IN CLINICAL PACING 2011


Minerva Medica 2011 June;102(3):209-22

language: English

Genetics of cardiac arrhythmias

Cummings S. 1,2, Priori S. G. 2,3,4

1 Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, NYU Langone Medical Center, New York, USA
2 Department of Pediatric Cardiology. NYU Langone Medical Center, New York, USA
3 Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy
4 Department of Cardiology University of Pavia, Pavia, Italy


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Continued research into the identification of mutated genes that cause inherited arrhythmogenic diseases has helped forward understanding into their pathophysiology. Over the last two decades the progress that has been made in the realm of genetic arrhythmias has made it possible not only for symptomatic patients to improve their outcomes, but also family members to better understand their risks and allow them in conjunction with their care providers to make the best decisions for their care. With this continued progress, significant changes will continue to occur in clinical practice. The advances in technology coupled with the improving understanding of genetically determined arrhythmias assists in earlier recognition of potentially fatal diseases, which leads to earlier implementation of treatment. It is the aim of this article to abridge the current knowledge of the genetic background of inherited arrhythmogenic diseases, namely long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. Pathogenesis and genotype-phenotype correlations are also discussed.

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silvia.priori@nyumc.org