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Truncus arteriosus associated with trisomy 18

J W Moore1, N E Wight, M C Jones

  • 1Division of Cardiology, Children's Hospital-San Diego, California.

Pediatric Cardiology
|May 1, 1994
PubMed
Summary
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Trisomy 18 typically causes simple heart defects, but this case presents a rare complex malformation. We describe the first instance of trisomy 18 associated with truncus arteriosus type II, a severe congenital heart anomaly.

Area of Science:

  • Cardiology
  • Genetics
  • Developmental Biology

Background:

  • Trisomy 18 (Edwards syndrome) is a genetic disorder associated with multiple congenital anomalies.
  • Cardiac defects are common in trisomy 18, frequently involving septal defects and polyvalvular conditions.
  • Complex cardiac malformations are considered rare in trisomy 18.

Observation:

  • This report details an exceptionally rare case of trisomy 18.
  • The patient exhibited a complex congenital heart malformation.

Findings:

  • The observed cardiac anomaly was truncus arteriosus type II.
  • This represents the first documented case of trisomy 18 with truncus arteriosus type II.

Implications:

Related Experiment Videos

  • This finding expands the known spectrum of cardiac anomalies in trisomy 18.
  • It highlights the importance of thorough cardiac evaluation in trisomy 18.
  • Further research may elucidate the genetic and developmental mechanisms underlying this rare association.