Other genomic disorders and congenital heart disease

Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):107-115. doi: 10.1002/ajmg.c.31762. Epub 2020 Jan 7.


Congenital heart disease (CHD) is the common birth defect worldwide. Despite its recognized burden on public health, the etiology in the vast majority of individuals remains unknown. Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are increasingly responsible for CHD with variable penetrance. Single gene disorders, epigenetic alterations, and environmental etiologies are also significant contributors. Our understanding of the genetic basis of CHD has increased exponentially with the escalating use of next generation sequencing to identify ever so small submicroscopic genomic imbalances at the level of coding exons in CHD. This review focuses on genomic disorders other than 22q11.2 deletion, that are major players in the etiology of human cardiac malformations.

Keywords: NAHR; chromosomal microarray analysis; congenital heart disease; genomic disorders.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations
  • Chromosome Deletion
  • Comparative Genomic Hybridization
  • DNA Copy Number Variations / genetics
  • DiGeorge Syndrome / complications
  • DiGeorge Syndrome / genetics*
  • Genetic Diseases, Inborn / complications
  • Genetic Diseases, Inborn / genetics*
  • Genome, Human / genetics
  • Genomics*
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans