The role mutations of notch in cardiac development and congenital heart disease
https://doi.org/10.18705/2311-4495-2015-0-2-3-84-89
Abstract
The high incidence of congenital heart disease among family members indicates a significant contribution of the genetic component in the development of this group of diseases. An important role of NOTCH1 in cardio-and vasculogenesis as well as a link between mutations in NOTCH1 and congenital heart disease and blood vessels has been suggested recently. It has been proved that Notch signaling plays an important role in the regulation of endothelial-to-mesenchymal transition, which is a critical event in the initial steps forming left ventricle and heart valves. Development of prenatal diagnosis by detecting defects in NOTCH1 gene will increase the probability of fetal congenital heart defects recognition, thereby contributing to the timely provision of skilled care and increasing survival of these patients
About the Authors
Tatiana N. Tatarinova
North-Western Federal Medical Research Center
Russian Federation
Russian Federation
O. A. Freylikhman
North-Western Federal Medical Research Center
Russian Federation
Russian Federation
Anna Aleksandrovna Kostareva
North-Western Federal Medical Research Center
Russian Federation
Russian Federation
Olga Borisovna Irtyuga
North-Western Federal Medical Research Center
Russian Federation
Russian Federation
Anna Borisovna Malashicheva
North-Western Federal Medical Research Center; Saint-Petersburg State University
Russian Federation
Russian Federation
Olga Mikhailovna Moiseeva
North-Western Federal Medical Research Center
Russian Federation
Russian Federation
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Review
For citations:
Tatarinova T.N., Freylikhman O.A., Kostareva A.A., Irtyuga O.B., Malashicheva A.B., Moiseeva O.M. The role mutations of notch in cardiac development and congenital heart disease. Translational Medicine. 2015;(2-3):84-89. (In Russ.) https://doi.org/10.18705/2311-4495-2015-0-2-3-84-89
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