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Inherited ion channel diseases: a brief review

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EUROPACE
卷 17, 期 -, 页码 1-6

出版社

OXFORD UNIV PRESS
DOI: 10.1093/europace/euv105

关键词

Genetic; Inherited channelopathies; Sudden death

资金

  1. Netherlands CardioVascular Research Initiative: the Dutch Heart Foundation
  2. Dutch Federation of University Medical Centres
  3. Netherlands Organisation for Health Research and Development
  4. Royal Netherlands Academy of Sciences

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Ion channelopathies are diseases caused by dysfunctional ion channels that may lead to sudden death. These diseases can be either acquired or inherited. The main phenotypes observed in patients carrying these heritable arrhythmia syndromes are congenital long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. In the recent years, tremendous progress has been made in the recognition, mechanisms, and treatment of these diseases. The goal of this review is to provide an overview of the main phenotypes, genetic underpinnings, risk stratification, and treatment options for these so-called cardiac ion channelopathies.

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