Beata Aleksiūnienė, Algirdas Utkus, Virgilijus Tarutis


Congenital heart disease (CHD) is the most common type of birth defect. It is leading cause of death in the first of year of live. The etiology of CHD is still not completely understood. Recent scientific investigations have focused on discovering of molecular mechanisms of cardiac development. New knowledges about genes participating in cardiac morphogenesis have led to the identification of genetic etiologies of CHD. In this article, genetic factors causing CHD, from large genome rearangements to single nucleotide polymorphisms are rewieved, and new genetic techniques, allowing to reveal the genetic causes and providing new understanding about molecular etiology of CHD are described.

Keyword(s): congenital heart disease, gene mutation, copy number variation, single nukleotide polymorphisms.
DOI: 10.5200/sm-hs.2014.033
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