POLYMORPHISM VARIANTS IN NOTCH1 AS PREDICTORS OF AORTIC INSUFFICIENCY IN PATIENTS WITH BICUSPID AORTIC VALVE

DOI: https://doi.org/None

Tatarinova T.N., Alexeyeva N.P., Freylikhman O.A., Kostareva A.A., Grekhov E.V., Moiseeva O.M.

The aim of the study was to establish the contribution of NOTCH1 polymorphisms on the development of a combined bicuspid aortic valve and aortic coarctation. Design and Patients. The study included 34 patients, the control group consisted of 200 cases without congenital heart disease. We applied a targeted screening of 10 exons and the adjoining introns of NOTCH1, previously described in association with LVOT malformations and bicuspid aortic valve. Results and Discussion. We identified 26 polymorphic variants, both reported and new once. Exon SNPs were found to be more common in patients with aortic insufficiency, whereas intronic SNPs were more common in groups of normal bicuspid aortic valve and controls. Thus, intraexonic NOTCH1 SNPs, probably are less associated with bicuspid aortic valve development, but have a greater impact on the remodeling type and valve insufficiency
Keywords: 
NOTCH1, bicuspid aortic valve, aortic coarctation
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