The role of the cardiac sodium channel in perinatal early infant mortality

Lia Crotti, Alice Ghidoni, Roberto Insolia, Peter J. Schwartz

Research output: Contribution to journalArticlepeer-review

Abstract

The cardiac sodium channel gene, SCN5A, plays an important role in arrhythmias of genetic origin. With exceptions, loss-of-function mutations become more important in adult life, whereas gain-of-function mutations can manifest their clinical impact very early, also in the perinatal period. The best-known disease caused by the latter variants is long QT syndrome type 3, which tends to manifest in adolescence. However, when symptoms appear in the first year of life the likelihood of cardiac arrest and sudden death is very high.

Original languageEnglish
Pages (from-to)749-759
Number of pages11
JournalCardiac Electrophysiology Clinics
Volume6
Issue number4
DOIs
Publication statusPublished - Dec 1 2014

Keywords

  • Genetics
  • IUFD
  • Long QT syndrome
  • Perinatal mortality
  • SIDS
  • Sodium channel
  • Stillbirth

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

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