Genetics and genetic diagnostics of congenital heart disease

• Elena V. Zaklyazminskaya

Abstract

The human heart is the most important organ that is one of the first to form in embryogenesis. During the period from 3^th to the end of 9^th weeks of gestation, the main stages of the formation of chambers, valves and blood vessels are completed. The control of heart embryogenesis at all stages is carried out due to a large number of coordinated genetic, epigenetic and environmental influences. A large number of genetic and epigenetic factors are known to disrupt normal embryogenesis and lead to the congenital heart disease (CHD) in neonates. These defects are quite frequent and can be detected in approximately 0.9-1.2% of newborns, which is 20-25% of all congenital malformations. The paper discusses the spectrum of genetic causes of CHD, a differentiated approach to their identification, as well as the features of medical and genetic counseling in burdened families.

Keywords:congenital heart diseases, DNA diagnostics, prenatal diagnostics, septal defects, hypoplastic left heart syndrome, microdeletion syndrome, САТСН22

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