New methods of genomic analysis detected chromosomal variants in 17% to 25% of patients with congenital heart disease who did not have previously detected genetic abnormalities.
Approximately 1% of newborns are affected by congenital heart disease, and most have no family history of the disease. Results from two recent studies indicate a high rate of submicroscopic genomic aberrations in children with congenital heart disease.
The first study included 105 children with various congenital heart defects but no other congenital abnormalities. Array comparative genomic hybridization, a relatively new technique to search the genome for subtle abnormalities, revealed that 18 children (17%) had chromosomal changes (4 deletions and 14 duplications) that had escaped detection by standard karyotype analysis. The importance of these genetic aberrations is not clear, but the variants observed were rare and therefore thought to …