A single Na+ channel mutation causing both long-QT and Brugada syndromes

C Bezzina, MW Veldkamp, Maarten P. van den Berg, AV Postma, Martin B. Rook, J.W. Viersma, IM van Langen, Ghita Tan - Sindhunata, Margreet Th. E. Bink - Boelkens, Annemarie H. Hout , van der, MMAM Mannens, AAM Wilde*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

Mutations in SCN5A, the gene encoding the cardiac Na+ channel, have been identified in 2 distinct diseases associated with sudden death: one form of the long-QT syndrome (LQT(3)) and the Brugada syndrome. We have screened SCN5A in a large 8-generation kindred characterized by a high incidence of nocturnal sudden death, and QT-interval prolongation and the "Brugada ECG" occurring in the same subjects. An insertion of 3 nucleotides (TCA) at position 5537, predicted to cause an insertion of aspartic acid (1795insD) in the C-terminal domain of the protein, was linked to the phenotype and was identified in all electrocardiographically affected family members. ECGs were obtained from 79 adults with a defined genetic status (carriers, n=43; noncarriers, n=36), In affected individuals, PR and QRS durations and QT intervals are prolonged (P

Original languageEnglish
Pages (from-to)1206-1213
Number of pages8
JournalCirculation research
Volume85
Issue number12
Publication statusPublished - 3-Dec-1999

Keywords

  • long-QT syndrome
  • Brugada syndrome
  • SCN5A
  • arrhythmia
  • Na+ channel
  • ST-SEGMENT ELEVATION
  • INHERITED CARDIAC-ARRHYTHMIA
  • BUNDLE-BRANCH BLOCK
  • SODIUM-CHANNEL
  • VENTRICULAR-FIBRILLATION
  • MOLECULAR MECHANISM
  • HEART-DISEASE
  • SUDDEN-DEATH
  • BETA(1)-SUBUNIT

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