Advances in the molecular genetics of congenital structural heart disease

Genet Test. 1999;3(2):157-72. doi: 10.1089/gte.1999.3.157.


Molecular genetic analyses have generated significant advances in our understanding of congenital heart disease. Techniques of genetic mapping with polymorphic microsatellites and fluorescence in situ hybridization (FISH) have provided informative tools for localization and identification of disease genes. Some cardiovascular diseases have proven to result from single gene defects. Others relate to more complex etiologies involving several genes and their interactions. Elucidation of the molecular genetic etiologies of congenital heart disease prompts consideration of DNA testing for cardiac disorders. Future integration of these diagnostic modalities with improved treatments may ultimately decrease morbidity and mortality from congenital heart diseases.

Publication types

  • Review

MeSH terms

  • Animals
  • Female
  • Heart Defects, Congenital / genetics*
  • Heart Neoplasms / genetics
  • Heart Septal Defects / genetics
  • Heart Valves / abnormalities
  • Humans
  • Male
  • Mice
  • Molecular Biology
  • Syndrome