TY - JOUR
T1 - Genetic causes of sudden infant death syndrome: a postmortem investigation not to be missed
AU - Oliva, Antonio
AU - Partemi, Sara
AU - Pascali, Vincenzo Lorenzo
AU - Brugada, Ramon
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - SUDDEN INFANT DEATH SYNDROME
KW - SUDDEN INFANT DEATH SYNDROME
UR - http://hdl.handle.net/10807/53085
U2 - 10.1097/PAF.0b013e3182886d62
DO - 10.1097/PAF.0b013e3182886d62
M3 - Article
SN - 0195-7910
VL - 34
SP - e3-e3
JO - THE AMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY
JF - THE AMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY
ER -