atrial septal defect

Atrial septal defect is one of the most common forms of congenital heart malformation (cardiac malformations).

Etiology

- Loci

  • ASD1 at 6p21.3 (MIM.108800)
  • ASD2 at 8p23.1-p22 (GATA4 mutations) (MIM.607941)
  • ASD3 at 14q12: MYH6 mutations in the alpha-myosin heavy chain gen MYH6

- ASD secundum with atrioventricular conduction defects is caused by mutations in the transcription factor NKX2E (NKX2-5 or CSX) (MIM.600584).

Associations

- heterotaxy

  • situs ambiguus

References

- Packham EA, David Brook J. Interaction makes the heart grow stronger. Trends Mol Med. 2003 Oct;9(10):407-9. PMID: 14557051

[ Return to site page ]