Persistent truncus arteriosus with absent semilunar valve in first trimester

Area of Science:

• Cardiology
• Pediatric Cardiology
• Congenital Heart Disease Research

Background:

• Persistent truncus arteriosus (PTA) is a rare congenital heart defect, affecting 0.7-1.4% of all congenital cardiac abnormalities globally.
• PTA typically presents with a single semilunar valve, which can have variable leaflet numbers.
• The absence of a semilunar valve (ASV) in conjunction with PTA is exceptionally uncommon.

Observation:

• This report details a case diagnosed prenatally.
• The diagnosis of PTA with ASV (PTA-ASV) was confirmed through postmortem autopsy.
• This specific combination (PTA-ASV) represents an extremely rare clinical presentation.

Findings:

• The study confirms an extremely rare case of persistent truncus arteriosus.
• A key finding is the co-occurrence of absent semilunar valve with PTA.
• Postmortem autopsy verified the prenatal diagnosis of this rare cardiac anomaly.

Implications:

• This case expands the understanding of congenital heart defect variations.
• It underscores the importance of detailed prenatal diagnosis and autopsy in rare cardiac conditions.
• Further research into PTA-ASV etiology and management may be warranted.