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Ion Channel Disease

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Sudden Cardiac Death in the Young and Athletes

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Abstract

In nearly 15–20 % of SCDs in the young, a gross and histological examination of the heart fails to reveal a convincing pathological substrate which may explain the fatal outcome [1–4]. A thorough and complete autopsy, including the brain, results to be negative for an extracardiac or mechanical cardiac cause of death [5]. The heart is structurally normal and, by exclusion, the death is nothing but arrhythmic in origin. This death is known as “mors sine materia” and is frequently of familial occurrence, suggesting a hereditary genetically determined disorder [4]. Only the employment of molecular investigation may help to detect the genetic abnormality in the nucleotide DNA sequence, thus allowing to find that many SCDs sine materia are indeed ion channel diseases, now listed among nonstructural cardiomyopathies [6, 7]. Circumstances of death and the availability of the 12-lead ECG recorded during life are of utmost importance to address the investigation [5] (Fig. 9.1).

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Authors and Affiliations

  1. Cardiovascular Pathology Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padova, Italy

    Gaetano Thiene & Cristina Basso

  2. Cardiology Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padova, Italy

    Domenico Corrado

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  1. Gaetano Thiene
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  2. Domenico Corrado
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  3. Cristina Basso
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© 2016 Springer-Verlag Milan

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Thiene, G., Corrado, D., Basso, C. (2016). Ion Channel Disease. In: Sudden Cardiac Death in the Young and Athletes. Springer, Milano. https://doi.org/10.1007/978-88-470-5776-0_9

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  • DOI: https://doi.org/10.1007/978-88-470-5776-0_9

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  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-5775-3

  • Online ISBN: 978-88-470-5776-0

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