Fig. (2).

Complex etiology of congenital heart defects. One must assume that a multitude of alterations happen which affect the genomic information directly (SNPs, CNVs, mutations, DNA methylation) or which alter the steady state of the transcriptome (dysregulation of coding and non-coding RNA species). Altogether these multiple factors generate a comprehensive genetic imbalance which ultimately results in the development of a distinct CHD phenotype.