Total anomalous pulmonary venous connection : Autopsy considerations

Area of Science:

• Pathology
• Pediatric Cardiology
• Forensic Medicine

Background:

• Total anomalous pulmonary venous connection (TAPVC) involves abnormal drainage of pulmonary veins into the systemic circulation, posing diagnostic challenges.
• Sudden unexpected death in infants necessitates ruling out conditions like SIDS and inflicted injury, as well as congenital anomalies.
• Infradiaphragmatic TAPVC into the portal vein is a rare presentation, complicating autopsy diagnosis.

Purpose of the Study:

• To report a case of infradiaphragmatic TAPVC presenting as sudden infant death.
• To outline an autopsy approach for diagnosing TAPVC, particularly in challenging cases.
• To discuss associated anomalies and their implications for diagnosis and genetic counseling.

Main Methods:

• Autopsy examination of a 5-week-old infant with sudden, unexpected death.
• Detailed inspection and dissection of cardiac and vascular connections before evisceration.
• Photographic documentation of all findings.
• Review of associated cardiovascular and extracardiac anomalies.

Main Results:

• The infant had infradiaphragmatic TAPVC draining into the portal vein.
• Associated anomalies included a tri-lobed left lung, patent ductus arteriosus, and IVC drainage into both atria.
• The autopsy approach detailed aims to maximize diagnostic accuracy for TAPVC.

Conclusions:

• This case underscores the diagnostic difficulties of TAPVC, especially infradiaphragmatic types, in cases of sudden infant death.
• A systematic autopsy protocol, including detailed vascular examination, is crucial for identifying TAPVC.
• Associated anomalies and potential heritability necessitate thorough evaluation and genetic referral.