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Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

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Abstract

Sudden infant death syndrome is the unexpected demise of a child younger than 1 year of age which remains unexplained after a complete autopsy investigation. Usually, it occurs during sleep, in males, and during the first 12 weeks of life. The pathophysiological mechanism underlying the death is unknown, and the lethal episode is considered multifactorial. However, in cases without a conclusive post-mortem diagnosis, suspicious of cardiac arrhythmias may also be considered as a cause of death, especially in families suffering from any cardiac disease associated with sudden cardiac death. Here, we review current understanding of sudden infant death, focusing on genetic causes leading to lethal cardiac arrhythmias, considering both genes encoding ion channels as well as structural proteins due to recent association of channelopathies and desmosomal genes. We support a comprehensive analysis of all genes associated with sudden cardiac death in families suffering of infant death. It allows the identification of the most plausible cause of death but also of family members at risk, providing cardiologists with essential data to adopt therapeutic preventive measures in families affected with this lethal entity.

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    Authors and Affiliations

    1. Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain

      Georgia Sarquella-Brugada, Sergi Cesar & Josep Brugada

    2. Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain

      Oscar Campuzano, Anna Iglesias, Anna Fernandez & Ramon Brugada

    3. Medical Science Department, School of Medicine, University of Girona, Girona, Spain

      Oscar Campuzano & Ramon Brugada

    4. Cardiovascular Unit, Hospital Josep Trueta, Girona, Spain

      Ramon Brugada

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    1. Georgia Sarquella-Brugada
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    2. Oscar Campuzano
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    4. Anna Iglesias
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    5. Anna Fernandez
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    6. Josep Brugada
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    Correspondence to Ramon Brugada.

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    Georgia Sarquella-Brugada and Oscar Campuzano contributed equally to this work.

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    Sarquella-Brugada, G., Campuzano, O., Cesar, S. et al. Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?. Int J Legal Med 130, 415–420 (2016). https://doi.org/10.1007/s00414-016-1330-7

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