Cardiac sodium channel diseases

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

In the last few years, a very active line of research took place after the first identification of SCN5A mutations associated with an inherited form of cardiac arrhythmias and sudden death, the LQT3 variant of the long QT syndrome. Subsequently, two allelic diseases additional to LQT3 were shown to be due to mutations in the same gene, the Brugada syndrome (BrS) and the Lev-Lenegre syndrome (progressive cardiac conduction defect). Genotype-phenotype correlation and in vitro expression studies provide evidence that structure-function relationships of the SCN5A protein are much more complex than initially anticipated. The biophysical characterization of the sodium channel defects associated with different phenotypes and the genotype-phenotype correlation studies brought to the attention of the scientific community a plethora of mechanisms by which even a single amino acid substitution may remarkably affect cardiac excitability. Finally, the evidence of patients harboring an SCN5A mutation and overlapping clinical presentations creates a need for a revision of the traditional classification of the above mentioned diseases. It is now appropriate to consider the "sodium channel syndrome" as a unique clinical entity that may manifest itself with a spectrum of possible phenotypes.

Original languageEnglish
Pages (from-to)439-444
Number of pages6
JournalClinical Chemistry and Laboratory Medicine
Volume41
Issue number4
DOIs
Publication statusPublished - 2003

Fingerprint

Sodium Channels
Genetic Association Studies
Defects
Mutation
Brugada Syndrome
Phenotype
Long QT Syndrome
Substitution reactions
Genes
Amino Acid Substitution
Sudden Death
Amino Acids
Cardiac Arrhythmias
Proteins
Research

Keywords

  • Cardiac sodium channel
  • Long QT syndrome
  • Sudden death

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Cardiac sodium channel diseases. / Napolitano, Carlo; Rivolta, Ilaria; Priori, Silvia G.

In: Clinical Chemistry and Laboratory Medicine, Vol. 41, No. 4, 2003, p. 439-444.

Research output: Contribution to journalArticle

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