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Cryptic chromosomal abnormalities identified in children with congenital heart disease

Ashleigh A Richards1, Lane Jaeckle Santos, Haley A Nichols

  • 1Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

Pediatric Research
|June 7, 2008
PubMed

Insights

Subtle chromosomal abnormalities are often found in children with congenital heart disease (CHD) and other birth defects, especially when neurologic issues are present. Further genetic testing is recommended for these cases.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Congenital heart disease (CHD) is the most common birth defect, with unknown causes in most cases.
  • CHD frequently co-occurs with other malformations, but chromosomal abnormalities are rarely identified.
  • Existing cytogenetic methods often fail to detect subtle genetic variations.

Purpose of the Study:

  • To investigate the presence of cryptic chromosomal abnormalities in children with CHD and additional birth defects.
  • To determine if advanced DNA microarray techniques can uncover these subtle genetic variations.
  • To compare findings in children with CHD and other malformations versus those with isolated CHD.

Main Methods:

  • Recruited 20 children with CHD and additional birth defects, previously negative for chromosomal abnormalities via conventional testing.
  • Employed whole-genome array comparative genomic hybridization (aCGH) to screen for copy number variations.
  • Utilized a matched control group of children with isolated heart defects.

Main Results:

  • Identified disease-causing cryptic chromosomal abnormalities in 5 out of 20 children with CHD and additional birth defects.
  • No chromosomal abnormalities were detected in the control group with isolated CHD.
  • Detected abnormalities included unbalanced translocations, interstitial duplications, and deletions, predominantly in children with co-occurring neurologic abnormalities.

Conclusions:

  • A significant proportion of children with CHD and neurologic abnormalities harbor subtle chromosomal abnormalities.
  • Array CGH is effective in detecting cryptic chromosomal variations missed by conventional cytogenetic testing.
  • Recommend expanded genetic testing for children with CHD and neurologic deficits to identify these subtle chromosomal abnormalities.

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