Genetic causes of sudden infant death syndrome: a postmortem investigation not to be missed

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

Abstract

Sudden cardiac deaths in infancy have always been assumed to be caused by genetic defects in ion channels, given its lack of structural abnormalities. Nevertheless, it is possible that some of the variants listed as putative pathogenic mutations may be innocuous functionally. Therein lies the difficulty in determining the “actionableness” of these rare, nonfunctionally characterized genetic variants when the probability of pathogenicity for that given variant is not 100%. Believe it or not, together with the preliminary hypotheses raised by Harris et al regarding possible novel respiratory viral infections as causes of SIDS, we still do need to account the putative role of HCM genetic variants in SIDS, which lead us a new scenario in diagnosis and prevention of this lethal entity.
Lingua originaleEnglish
pagine (da-a)e3-e3
RivistaTHE AMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY
Volume34
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • SUDDEN INFANT DEATH SYNDROME

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