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Title
  • en Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms
Creator
    • en Makita, Naomasa
    • en Sasaki, Koji
    • en Groenewegen, W. Antoinette
    • en Yokota, Takashi
    • en Murakami, Tomoaki
Accessrights open access
Subject
  • Other en Atrial standstill
  • Other en SCN5A
  • Other en Connexin 40
  • Other en Incomplete penetrance
  • Other en Single nucleotide polymorphism
  • Other en Sudden death
  • NDC 493.2
Description
  • Abstract en The novel SCN5A mutation L212P was identified in the proband (age 11 years) and his father. The father was in normal sinus rhythm. The proband had no P waves on surface ECG, and his right atrium could not be captured by pacing. The recombinant L212P Na channel showed a large hyperpolarizing shift in both the voltage dependence of activation (WT: −48.1 ± 0.9 mV; L212P: −63.5 ± 1.5 mV; P < .001) and inactivation (WT: −86.6 ± 0.9 mV; L212P: −95.6 ± 0.8 mV; P < .001) and delayed recovery from inactivation. Further screenings for genetic variations that might mitigate L212P dysfunction revealed that the proband, but not his father, carries Cx40 polymorphisms inherited from his asymptomatic mother.
Publisher en Heart Rhythm Society Published by Elsevier Inc.
Date
    Issued2005-10
Language
  • eng
Resource Type journal article
Version Type AM
Identifier HDL http://hdl.handle.net/2115/16956
Relation
  • URI http://www.sciencedirect.com/science/journal/15475271
  • isVersionOf DOI https://doi.org/10.1016/j.hrthm.2005.06.032
  • PMID 16188595
Journal
    • PISSN 1547-5271
      • en Heart Rhythm
      • Volume Number2 Issue Number10 Page Start1128 Page End1134
File
Oaidate 2023-07-26