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Updated: Jun 12, 2025

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Ectopia cordis with multiple congenital malformations: rare but real

Shruti Thakur1, Sumala Kapila2, Charu Smita Thakur2

  • 1Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital (IGMC), Shimla, Himachal Pradesh (HP), 171001, India. tshruti878@yahoo.in.

Journal of Ultrasound
|April 23, 2025
PubMed

Insights

Ectopia cordis, a rare congenital heart defect, positions the heart outside the chest. Early diagnosis via antenatal sonography is crucial for managing this condition with a poor prognosis.

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.

Keywords:
ClubfeetEctopia cordisOmphaloceleUltrasoundVentral wall defectVentriculomegaly

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