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[Trisomy 18 associated with atrioventricular canal].

M C Digilio1, B Marino, A Giannotti

  • 1Dipartimento di Cardiologia Pediatrica, Ospedale Bambino Gesù, Roma.

Giornale Italiano Di Cardiologia
|April 1, 1991
PubMed
Summary

This case report details a newborn with trisomy 18, an uncommon condition associated with atrioventricular canal and other heart defects. It highlights a rare presentation of cardiac anomalies in trisomy 18.

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Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Trisomy 18 (Edwards syndrome) is a genetic disorder typically associated with severe developmental delays and multiple congenital anomalies.
  • Atrioventricular canal defects are more commonly observed in trisomy 21 (Down syndrome) than in trisomy 18.

Observation:

  • A newborn presented with clinical and necropsy findings of trisomy 18.
  • The patient exhibited an atrioventricular canal, aortic coarctation, atrioventricular valve dysplasia, and multiple extracardiac anomalies.

Findings:

  • The co-occurrence of atrioventricular canal in trisomy 18 is rare, with this case representing the sixth documented instance in medical literature.
  • Multiple extracardiac anomalies were also noted, contributing to the complexity of the clinical presentation.

Implications:

  • This case underscores the phenotypic variability within trisomy 18, particularly concerning cardiac malformations.
  • Further research into the genetic and developmental pathways underlying these rare presentations is warranted for improved clinical understanding and management.

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