Genetics of Congenital Heart Disease

Biomolecules. 2019 Dec 16;9(12):879. doi: 10.3390/biom9120879.


Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules, and structural proteins that are important for heart development. Recent studies have shown genes encoding chromatin modifiers, cilia related proteins, and cilia-transduced cell signaling pathways play important roles in CHD pathogenesis. Elucidating the genetic etiology of CHD will help improve diagnosis and the development of new therapies to improve patient outcomes.

Keywords: chromatin modification; ciliary function; congenital heart disease; heart development; signaling pathways; transcription factors.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / etiology
  • Heart Defects, Congenital / genetics*
  • Humans