The genetic mechanism and research progress of congenital heart diseases

doi:10.3877.cma.j.issn.2095-5820.2014.01.005

Abstract

Abstract:

Congenital heart disease (CHD) is the most common birth defect. Genetic factors play important roles in pathogenesis and development of CHD. So far, causative genes found associated with CHD include those which encode transcription factors and transcription regulators, molecules participating in developmental signaling pathway, cardiac structural proteins, multiple ligands in circulation, and receptor-ligand on myocardial cell membrane. Chromosomal structural variants and point mutations that imperil the function of these genes are significantly relevant to the pathogenesis of CHD. These variants perturb heart development through haploinsufficiency, or reduction in the dosage of the encoded proteins. Great progress has been achieved in elucidating the genetic basis of CHD, but these genetic factors can only account for a small fraction of all CHD cases. Further identification of CHD-associated genes and the contribution of different types of variants to the development of disease are still important for demonstrating the genetic mechanism of CHD.

Key words: Heart disease, congenital, Genetic mechanism, Genes

Juan Geng, Qihua Fu. The genetic mechanism and research progress of congenital heart diseases[J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2014, 02(01): 21-25.

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