Inherited Arrhythmia Syndromes: Applying the Molecular Biology and Genetic to the Clinical Management

Research output: Contribution to journalArticle


Thanks to the contribution of molecular genetics, the genetic bases, the pathogenesis and genotype-phenotype correlation of diseases such as the Long QT syndrome, the Brugada Syndrome, the Progessive cardiac conduction defect (Lenegre disease), the Catecholaminergic Polymorphic Ventricular Tachycardia and Andersen Syndrome have been progressively unveiled and show an extremely high degree of genetic heterogeneity. The evidences supporting this concept are outlined with a particular emphasis on the growing complexity of the molecular pathways that may lead to arrhythmias and sudden death, in term of the relationships between genetic defect(s) and genotype(s) as well as gene-to gene interactions. The current knowledge is reviewed, focusing on the evidence that a single clinical phenotype may be caused by different genetic substrates and, conversely, a single gene may cause very different phenotypes acting through different pathways.

Original languageEnglish
Pages (from-to)93-101
Number of pages9
JournalJournal of Interventional Cardiac Electrophysiology
Issue number2
Publication statusPublished - Oct 2003


  • Arrhythmias
  • Brugada syndrome
  • Cardiac arrest
  • Catecholaminergic ventricular tachycardia
  • Genetics
  • Long QT syndrome
  • Sudden death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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