Abstract
Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease.
Highlights
Congenital heart disease (CHD) is the leading cause of birth defects, and accounts for more deaths in the first year of life than any other condition when infectious etiologies are excluded [1]
We will focus on new developments in the field of cardiac genetics, in relation to the importance of copy number variations and single nucleotide polymorphisms in the development of CHD
This study demonstrated that copy number variation (CNV) are associated with CHD that occurs in association with other anomalies or developmental delay
Summary
Congenital heart disease (CHD) is the leading cause of birth defects, and accounts for more deaths in the first year of life than any other condition when infectious etiologies are excluded [1]. The development of gene targeting technology has led to the generation of a multitude of mouse models with cardiac developmental defects. These studies have led to the identification of numerous transcriptional regulators, signaling molecules and structural genes that are critical for normal cardiac morphogenesis. Multiple genes have been identified that are controlled by these highly conserved molecular pathways. These investigations into the molecular mechanisms of cardiac development have assisted in the identification of genetic etiologies of CHD and provide evidence that many genes may have etiologic roles in human CHD. We will focus on new developments in the field of cardiac genetics, in relation to the importance of copy number variations and single nucleotide polymorphisms in the development of CHD
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