Chromosomal and Gene Hunt in Orchestration of Cardiac Development/Congenital Heart Diseases

Abstract

Congenital heart diseases (CHD) are one of the common causes of birth defects and the leading cause of mortality in infants. Even though, the management of these defects have been revolutionized using intervention/device closure and surgical procedures, often the causes of these defects remain obscure. Currently, a lot of insights have been unveiled with respect to cardiac morphogenesis, chromosomal and genetic mechanisms and molecular pathways. This review article gives an overview of the following aspects; chromosomal/Genetic studies, multifactorial inheritance, molecular basis of cardiac development, gene expression and cardiac morphogenesis, cardiac crest migration, gap junction proteins, endocardial development, defective genes for specific lesions, channelopathy and so on. Most of these aspects are of interest to the scientists at large, but certain observations are definitely in the mode of the ‘bench to bedside’ stream. These elucidate some of the familial occurrence of CHDs. Cardiac crest migration occurring at the same as the neural crest migration and the possible primary prevention of certain CHDs by giving periconceptional folic acid as in the case of Neural tube defects (NTDs) is another example of this application. The complex process of orchestration of cardiac development and the genetic and molecular basis of CHD are yet to be elucidated.