Genetics and unexplained infant death:genomics in the courtroom
DOI:
https://doi.org/10.13112/pc.1054Keywords:
SINDROM IZNENADNE DOJENAČKE SMRTI; SMRT, IZNENADNA; GENETIKA; SINDROM DUGOG QT INTERVALA; KALMODULINAbstract
Sudden unexplained death in infancy, and particularly sudden infant death syndrome (SIDS), remains one of the most troubling situations in paediatrics, given that the etiology and pathophysiology of SIDS remain unknown in the majority of cases. Particularly troubling are the instances of repeated unexplained deaths in young children in one family: the lack of readily identifiable cause of death in the victims of SIDS sometimes raises the suspicion of multiple infanticide, triggering criminal proceedings and long prison sentences, most commonly involving the mother. The history of overturned convictions in the cases of the so-called “killer mums” remains troubling and raises concerns about many parents around the globe facing judicial persecution and incarcerations, on top of the personal and familial tragedies they had endured. Recent advances in genomic technologies allowed affordable access to genetic testing in various fields
of medicine, leading to the identification of new genes and new pathogenic variants in known genes associated with various genetic conditions which are often rare and ultra-rare. Research in cardiac genetics provides clues about potential genetic causes of unexplained death in young children, and more importantly causes of recurrent death in one family: pathogenic variants in
ion channels can lead to electrical instability of the heart as an underlying mechanism of fatal arrhythmias, where the fatal episode may be the first and only manifestation of the condition. This review summarises what is known about the more common genetic arrhythmias in the context of the recent judicial proceedings in the case of Ms. Kathleen Folbigg in Australia, concluding that thorough genetic investigation is absolutely warranted in criminal proceedings involving multiple unexplained deaths and complex undiagnosed conditions in one family.
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