p.Y1449C SCN5A Mutation Associated with Overlap Disorder Comprising Conduction Disease, Brugada Syndrome, and Atrial Flutter

Authors

  • SANDEEP S. HOTHI M.A., Ph.D., M.B., B.Chir., M.R.C.P.,

    Corresponding author
    1. Physiological Laboratory, University of Cambridge, Cambridge, UK
    2. Murray Edwards College, University of Cambridge, Cambridge, UK
    3. Heart Centre, Northampton General Hospital, Northampton, UK
    • Address for correspondence: Sandeep S. Hothi, M.A., Ph.D., M.B., B.Chir., M.R.C.P., Murray Edwards College, University of Cambridge, Cambridge, CB3 0DF, UK. Fax: +44-122-376-3110; E-mail: ssh26@cam.ac.uk

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  • FARHANA ARA M.B.B.S.,M.R.C.P.,

    1. Heart Centre, Northampton General Hospital, Northampton, UK
    2. Glenfield Hospital, Leicester, UK
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  • JONATHAN TIMPERLEY M.D., M.R.C.P.

    1. Heart Centre, Northampton General Hospital, Northampton, UK
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  • No disclosures.

p.Y1449C SCN5A Mutation in a Family with Overlap Disorder

Mutations in the SCN5A gene, which encodes the cardiac sodium channel, have been associated with cardiac arrhythmia syndromes and conduction disease. Specific SCN5A mutations had initially been considered to cause specific phenotypes. More recently, some SCN5A mutations have been associated with overlap syndromes, characterized by phenotypic heterogeneity within and between mutation carriers. Here we report and associate the presence of the p.Y1449C SCN5A mutation in a single family with a spectrum of cardiac phenotypes including conduction disease, Brugada syndrome and atrial arrhythmias, for the first time to our knowledge.

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