International Journal of Legal Medicine

, Volume 130, Issue 2, pp 415–420 | Cite as

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

  • Georgia Sarquella-Brugada
  • Oscar Campuzano
  • Sergi Cesar
  • Anna Iglesias
  • Anna Fernandez
  • Josep Brugada
  • Ramon Brugada


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.


SIDS Molecular autopsy Genetics Arrhythmias Channelopathies Cardiomyopathies 


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Georgia Sarquella-Brugada
    • 1
  • Oscar Campuzano
    • 2
    • 3
  • Sergi Cesar
    • 1
  • Anna Iglesias
    • 2
  • Anna Fernandez
    • 2
  • Josep Brugada
    • 1
  • Ramon Brugada
    • 2
    • 3
    • 4
  1. 1.Arrhythmias Unit, Hospital Sant Joan de DéuUniversity of BarcelonaBarcelonaSpain
  2. 2.Cardiovascular Genetics CenterUniversity of Girona-IDIBGIGironaSpain
  3. 3.Medical Science Department, School of MedicineUniversity of GironaGironaSpain
  4. 4.Cardiovascular UnitHospital Josep TruetaGironaSpain

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