Solitary patent ductus arteriosus in a Japanese macaque (Macaca fuscata): a case report and genetic investigation

Abstract

Abstract We present the first report of solitary patent ductus arteriosus (PDA) without associated cardiovascular anomalies in a Japanese macaque (Macaca fuscata). The macaque showed no signs of PDA during its lifetime and lived for 9 years until the PDA was discovered post-mortem. An hourglass-shaped PDA with a total length of 19.8 mm and minimal diameter of 6.7 mm was observed using a silicon casting. Whole-exome sequencing was employed to investigate possible genetic factors related to PDA, and five missense candidate single-nucleotide variants (SNVs) were detected in ADAM15, AZGP1, CSPG4, EPOR, and TNFRSF13B. The conserved nature of the SNV sites in these genes across reference primate species, excluding the macaque, suggests that these mutations may play a role in PDA in macaques. This case report provides new information about solitary PDA in Japanese macaques and broadens the scope of non-human primate research through genetic investigation.