Circulation. Cardiovascular genetics
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Circ Cardiovasc Genet · Oct 2013
Randomized Controlled TrialEffect of copy number variants on outcomes for infants with single ventricle heart defects.
Human genomes harbor copy number variants (CNVs), which are regions of DNA gains or losses. Although pathogenic CNVs are associated with congenital heart disease (CHD), their effect on clinical outcomes is unknown. This study sought to determine whether pathogenic CNVs among infants with single ventricle physiology were associated with inferior neurocognitive and somatic growth outcomes. ⋯ Pathogenic CNVs seem to contribute to the cause of single ventricle forms of CHD in ≥10% of cases and are clinically subtle but adversely affect outcomes in children harboring them.