Molecular mechanisms of congenital heart disease.
BACKGROUND
Congenital heart disease (CHD) is the most common type of birth defect. Despite the many advances in our understanding of cardiac development and many genes related to cardiac development identified, the fundamental etiology for the majority of cases of congenital heart disease remains unknown.


METHODS
This review summarizes normal cardiac development, outlines the recent discoveries of the genetic causes of CHD, and provides possible strategies for exploring them.


RESULTS
CHD is a multifactorial complex disease, with environmental and genetic factors playing important roles. A number of causative genes of selected congenital heart defects and genetic syndromes have been found. The molecular mechanisms of CHD may include mutations in components of the cardiac gene network, altered haemodynamics, regulatory pathway of cardiac genes, micro-RNA dysfunction, epigenetics, adult congenital heart diseases, and so on.


CONCLUSIONS
The molecular basis of CHD is an exciting and rapidly evolving field. The continuing advances in the understanding of the molecular mechanisms of CHD will hopefully result in improved genetic counseling and care of affected individuals and their families.
Huang
Jing-bin
JB
Pediatric Center of Cardiac Surgery, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.
Liu
Ying-long
YL
Sun
Pei-wu
PW
Lv
Xiao-dong
XD
Du
Ming
M
Fan
Xiang-ming
XM
D000818:Animals; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008967:Molecular Biology / Q000379:methods