Gui YH

Childrens Hospital of Fudan University, Shanghai, China


Although a great progress has been achieved in the diagnosis and treatment of congenital heart disease in past decades, the real etiology of this life threatening disease still remains unsolved. It is clear that improved understanding of the causes will permit insight into the pathophysioloic basis of disease and allow definition of disease risk. Four interrelated strategies are being employed to discover the cause of congenital heart disease. Studies of normal development, evaluation of spontaneous or induced models of cardiac mal-development, evaluation of targeted mutations, and determination of the genetic cause of familial heart disease in affected individuals. Recently, There has been an explosion of new information about the basic molecular mechanisms that control normal heart development and subsequent congenital heart malformation. It has become increasingly evidence that defects in heart frequently result from gene alteration and is often responsible for in utero demise. New genes have been discovered which control the looping of the heart and distinguish arteries from veins, and direct formation of the semilunar valve and atrioventricular valves. Several genes expressed by neural crest document the importance of these cells in aorticopulmonary septation. For the most part, familial cardimyopathic, vascular, or arrhythmogenic disorders have been studied given the opportunity to identify the disease gene by linkage analyses, positional cloning, and analysis of candidate genes. In light of new genetic evidence, the correlation between anatomic cardiac patterns and some genetic anomalies (trisomy, delesion and mutation) suggest that specific morphogenetic mechanisms put in motion by genes can result in a specific cardiac phenotype.