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[Ectopia cordis and cardiac anomalies].

Alberto Cabrera1, David Rodrigo, María Teresa Luis

  • 1Cardiología Pediátrica. Hospital de Cruces. Vizcaya. España.

Revista Espanola De Cardiologia
|November 9, 2002
PubMed
Summary

Ectopia cordis, a rare congenital defect, often presents with severe cardiac anomalies. This study details unique associated malformations in 6 fatal cases, highlighting previously unreported conditions.

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Area of Science:

  • Cardiology
  • Developmental Biology
  • Medical Genetics

Background:

  • Ectopia cordis is a rare congenital anomaly with a low incidence (5.5-7.9 per million live births).
  • Most reported cases (95%) are associated with complex cardiac malformations.
  • Historically, few cases have been documented, with limited data on associated anomalies.

Observation:

  • This study investigated cardiac malformations in 6 infants diagnosed with ectopia cordis.
  • Patients were classified into thoracic and thoraco-abdominal groups based on defect location.
  • All infants experienced mortality within three days of birth, with four deaths occurring during delivery.

Findings:

  • All patients exhibited associated ventricular septal defects.
  • Half presented with double-outlet right ventricle, and the other half with tetralogy of Fallot-pulmonary atresia.

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  • Two cases with double-outlet right ventricle showed previously unreported mitral valve pathologies, including parachute and atretic valves.

    • Implications:

    • The findings expand the known spectrum of cardiac anomalies associated with ectopia cordis.
    • This research may inform future diagnostic and prognostic strategies for this rare condition.
    • Further investigation into the genetic and developmental factors underlying these unique malformations is warranted.