Abstract:
Sudden unexpected infant death (SUDI) is reported to be
an extraordinarily high burden in sub-Saharan Africa, with
the incidence rate in South Africa among the highest in the
world. It is common for the cause of many such infant deaths
to remain unexplained even after a full medico-legal death
investigation, and then to be categorised as a sudden unexplained
infant death (SUID). Fortunately, advances in molecular-
based diagnostics allow researchers to identify numerous
underlying inherited cardiac arrhythmogenic disorders in
many SUDI cases, with a predominance of variants identified
in the SCN5A gene. Such cardiac arrhythmogenic-related
sudden deaths generally present with no structural alterations
of the heart that are macroscopically identifiable at autopsy,
therefore highlighting the importance of post mortem genetic
testing. We report on a significant genetic finding that was
made on a SUDI case in which the cause was ascribed to an
acute bacterial pneumonia but it was still subjected to post
mortem genetic testing of the SCN5A gene. The literature
shows that many SUDI cases diagnosed with inherited cardiac
arrhythmogenic disorders have demonstrated a viral prodrome
within days of their death. It is therefore not uncommon for
these cardiac disorders in infants to be mistaken for flu, viral
upper respiratory tract infection or pneumonia, and without
the incorporation of post mortem genetic testing, any other
contributory causes of these deaths are often disregarded.
This study highlights the need for research reporting on the genetics of inherited cardiac disorders in Africa.
