Ectopia cordis with multiple congenital malformations: rare but real

Area of Science:

• Pediatrics
• Cardiology
• Medical Genetics

Background:

• Ectopia cordis is a rare congenital anomaly characterized by the heart's abnormal positioning outside the thoracic cavity.
• The etiology remains unclear, and it can occur as an isolated defect or alongside other congenital malformations.

Purpose of the Study:

• To report a rare case of ectopia cordis associated with multiple congenital anomalies.
• To highlight the importance of early antenatal diagnosis and its implications for pregnancy management.

Main Methods:

• Antenatal sonography for initial detection.
• Detailed fetal anatomical and high-quality cardiac scans for comprehensive evaluation.

Main Results:

• The case presented ectopia cordis with ventriculomegaly, omphalocele (with liver and intestinal herniation), and bilateral clubfeet.
• The combination of these defects indicates a complex congenital malformation syndrome.

Conclusions:

• Ectopia cordis, especially with associated anomalies, carries a poor prognosis, often resulting in stillbirth or early neonatal death.
• Given the rarity and complexity, medical termination of pregnancy is often the recommended course of action.