Novel Brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads

Franck Potet, Philippe Mabo, Guillaume Le Coq, Vincent Probst, Jean Jacques Schott, Fabrice Airaud, Gilles Guihard, Jean Claude Daubert, Denis Escande*, Hervé Le Marec

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

99 Scopus citations


SCN5A Mutation and ST Segment Elevation in Inferior Leads. Mutations in the SCN5A gene can lead to the Brugada syndrome, a genetically inherited form of idiopathic ventricular fibrillation that has a characteristic ECG phenotype usually restricted to precordial leads V1-V3. We identified a novel G752R SCN5A missense mutation leading to various degrees of the Brugada ECG phenotype in members of a French family. In the proband, the G752R mutation produced ST segment elevation and prominent J wave in leads II, III, and aVF. In four other relatives, ST segment elevation in the right precordial but not in the inferior leads was observed either spontaneously or under flecainide challenge. Recombinant G752R mutant exhibited a markedly reduced Na+ current amplitude and a voltage shift in both activation and inactivation curves. The mutant was found in all affected but not in nonaffected family members. One additional gene-carrier had an almost normal ECG (silent gene-carrier). We provide genetic demonstration that Brugada ECG anomalies related to a unique SCN5A mutation can be observed either in the inferior or the right precordial leads.

Original languageEnglish (US)
Pages (from-to)200-203
Number of pages4
JournalJournal of cardiovascular electrophysiology
Issue number2
StatePublished - Feb 1 2003


  • Arrhythmias
  • Brugada syndrome
  • Fibrillation
  • Genetics

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)


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