Cardiovascular-related death in infancy and childhood: a clinicopathological study of two referral institutions in England.

To review post-mortem findings among deaths presenting as sudden and/or unexpected deaths in two centers in the UK during a 16-year period in order to identify those related to cardiovascular conditions. The post-mortem databases of two tertiary referral institutions were searched, and all reports were reviewed. Histological features and results of ancillary investigations were noted.

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.

We describe a mosaic PRKACA duplication in a young infant who presented with a Carney-like complex: bilateral non-pigmented micronodular adrenal hyperplasia, severe early-onset Cushing's syndrome, and distinct acral soft tissue overgrowth due to cutaneous mucinosis. This represents a novel manifestation of PRKACA disruption and broadens the extra-adrenal phenotype of PRKACA-associated Cushing's syndrome. Our data suggest that Cushing's syndrome phenotypes arising from somatic and germline PRKACA abnormalities can exist on a spectrum.