СОВРЕМЕННЫЕ ПРЕДСТАВЛЕНИЯ И РОЛЬ МУТАЦИЙ ГЕНА NOTCH1 В РАЗВИТИИ КОАРКТАЦИИ АОРТЫ

Aim. By the observation of aortic coarctation victims families, to reveal factors predisposing to the disease development, and to evaluate the prevalence of NOTCH1 genes mutation/replacements in patients with this kind of defect. Material and methods. Totally 68 patients included with aortic coarctation. All patients underwent echocardiographic investigation, direct and indirect manometry, multispiral computed aortography and intraoperational revision of coarctation zone. 51 patient underwent screening of 10 from 34 exones of NOTCH1 gene. Control group consisted 200 patients without IHD. Results. In more than a half of the cases coarctation coexisted with bicuspid aortic valve and in circa a hlaf of the cases there was combination of coarctation with arc or descending hypoplasia. Totally 29 NOTCH1 gene types were found. Four from those led to aminoacids exchange, of those only one, R1279H, was revealed in patients group and control group either. This type was much more prevalent in patients with aortic coarctation comparing to control group (p<0,05). Conclusion. The most important factors in coarctation development are heredity (33,8%) and complicated pregnancy (57,4%). The exchange of R1279H in gene NOTCH1 was much more prevalent in patients with the defect studied and might be an associated with the disease allele.