Immunohistochemical marker for Na+ CP type Valpha (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphylactic reaction

Rita Anzalone, Giampiero La Rocca, Emanuela Turillazzi, Irene Riezzo, Vittorio Fineschi, Margherita Neri, Cristoforo Pomara, Melania Lo Iacono

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6 Citations (Scopus)

Abstract

A sudden death likely due to mild anaphylactic reaction in a young man is described. Autoptic, histologic, immunohistochemical, and laboratory findings were strongly consistent with the diagnosis of a mild anaphylactic reaction. Genetic molecular analysis, performed on formalin-fixed, paraffin-embedded tissues, showed a mutation described as W822X in a family with electrocardiographic pattern typical of Brugada Syndrome. It results in a nonsense mutation generating a truncated form of the channel protein. The mutation is due to a point substitution of a guanine with an adenine residue (G2466A). Immunohistochemistry and laser scanning confocal microscopy on sections from heart formalin-fixed, paraffin-embedded tissues led us to confirm the cellular localization of the Na+ CP type Vα (C-20) at the intercalated disks of ventricular myocytes and nearly 50% reduction in Na+ channels expression in ventricular myocytes when compared with control cases. We suggest that the anaphylactic reaction that occurred in the young man could serve as a trigger mechanism, responsible for his sudden death with a SCN5A mutation associated with the Brugada syndrome
Original languageEnglish
Pages (from-to)357-362
Number of pages6
JournalApplied Immunohistochemistry and Molecular Morphology
Volume17
Publication statusPublished - 2009

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Histology
  • Medical Laboratory Technology

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