Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: Genetic testing for cardiac electropathies

Research output: Contribution to journalReview article

35 Scopus citations

Abstract

The sentinel descriptions of congenital long QT syndrome (LQTS) under the eponyms of Jervell and Lange-Nielsen syndrome and Romano-Ward syndrome were provided in 1957 and the early 1960s. In 1995, the discipline of cardiac channelopathies was birthed formally with the landmark discoveries of cardiac channel mutations as the pathogenic basis for LQTS. Over the past decade, the discipline has expanded considerably being comprised of at least a dozen distinct heritable arrhythmia syndromes, several disease-susceptibility genes, and hundreds of implicated mutations. Previously confined to the purview of research testing, diagnostic genetic testing for several channelopathies is now available for routine clinical use.

Original languageEnglish (US)
Pages (from-to)52-58
Number of pages7
JournalSeminars in Pediatric Neurology
Volume12
Issue number1
DOIs
StatePublished - Mar 2005

Keywords

  • Genetic testing
  • Ion channels
  • Long QT Syndrome
  • Sudden death

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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