Congenital heart disease (CHD) behaves like a complex genetic trait in most instances. Recent advances in genomics have provided tools for uncovering genetic variants underlying complex traits that are now being applied to study CHD. Massively parallel DNA sequencing has shown that de novo mutations contribute to ~10 % of severe CHD and implicated chromatin remodeling in pathogenesis. Genome scanning methods for copy number variants (CNVs) identify likely pathogenic genomic alterations in 10 % of infants with hypoplastic left heart syndrome and related single ventricle forms of CHD. The growth and neurocognitive development of children with CHD and those CNVs is worse, and clinical examination is relatively insensitive for detecting those CNVs. In sum, new opportunities for preventing and ameliorating CHD and its comorbidities are anticipated as its genetic architecture is elaborated through the use of state-of-the-art genomic approaches.

Original languageEnglish
Title of host publicationEtiology and Morphogenesis of Congenital Heart Disease
Subtitle of host publicationFrom Gene Function and Cellular Interaction to Morphology
PublisherSpringer Japan
Number of pages6
ISBN (Electronic)9784431546283
ISBN (Print)9784431546276
StatePublished - 1 Jan 2016


  • Congenital heart disease
  • Copy number variants
  • Exome sequencing
  • Genetics


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