THE ROLE OF THE HEREDITARY PREDISPOSITION IN THE DEVELOPMENT OF AORTA COARCTATION
https://doi.org/10.15690/vsp.v11i6.491
Abstract
As a result of examination of the families of patients with aorta coarctation the factors predisposing to this condition were established. Sixty eight patients with different localization, stenosis degree and extent of aorta coarctation were included into this study. All the patients were performed echocardiography, indirect and direct. Typical coarctation was found in 95,6% of the cases, in 55,9% it was associated with bicuspid aortic valve. The most significant predisposing factors to this anomaly development were compromised hereditary (33,8%) and complications during pregnancy (57,4%). According to the received data, during the family planning it is important to examine both parents, as father’s disorders may have more marked impact on aorta coarctation development, than mother’s ones. Children with compromised heredity on congenital heart defects are recommended to be carried out echocardiographic investigation at the early period of time after birth, despite the absence of disorders on intrauterine ultrasound.
About the Authors
T. N. Tatarinova
V.A. Almazov Federal Heart, Blood and Endocrinology Centre, St. Petersburg
Russian Federation
Russian Federation
A. A. Kostareva
V.A. Almazov Federal Heart, Blood and Endocrinology Centre, St. Petersburg
Russian Federation
Russian Federation
E. V. Grekhov
V.A. Almazov Federal Heart, Blood and Endocrinology Centre, St. Petersburg
Russian Federation
Russian Federation
O. M. Moiseeva
V.A. Almazov Federal Heart, Blood and Endocrinology Centre, St. Petersburg
Russian Federation
Russian Federation
References
1. Fyler D. C. Report of new England regional infant cardiac program. Pediatrics. 1980; 65 (Suppl.): 376–461.
2. Samanek M., Voriskova M. Infants with critical heart disease in a territory with centralized care. Int. J. Cardiol. 1986; 11: 63–74.
3. Botto L., Correa A., Erickson D. Racial and temporal variations in the prevalence of heart defects. Pediatrics. 2001; 107: 32.
4. Hoffman J. I. E. The incidence of congenital heart disease: II. Prenatal incidence. Pediatr. Cardiol. 1995; 16: 155–165.
5. van der Linde D., Konings E. E. M., Slager M. A. et al. Birth prevalence of congenital heart disease worldwide. JACC. 2011; 58: 2241–2247.
6. Шарыкин А. С. Врожденные пороки сердца. М. 2005. 380 с.
7. Achiron R., Tadmor O. Screening for fetal anomalies during the first trimester of pregnancy: transvaginal sonographic diagnosis of fetal anomalies. Ultrasound Obstet. Gynecol. 1990; 163: 466–476.
8. Bronshtein M., Siegler E., Eshcoli Z., Zimmer E. Z. Transvaginal ultrasound measurements of the fetal heart at 11 to 17 weeks of gestation. Am. J. Perinat. 1992; 9: 38–42.
9. Petersen S., Peto V., Rayner M. British Heart Foundation Health Promotion Research Group Department of Public Health. University of Oxford. 2003.
10. Kirklin, Barratt-Boyes. Cardiac Surgery. 2003. P. 1315–1377.
11. Ho S. Y., Anderson R. H. Coarctation, tubular hypoplasia and the ductus arteriosus. Br. Heart J. 1979; 41: 268–274.
12. Moss, Adams. Heart disease in infants, children, and adolescents: including the fetus and young adults. 2008. P. 988–1005.
13. Rudolph A. M., Heymann M. A., Spitznas U. Hemodynamic considerations in the development of narrowing of the aorta. Am. J. Cardiol. 1972; 30: 514–525.
14. Rudolph A. M. Congenital diseases of the heart. Chicago: Year Book Medical Publishers Inc. 1974. P. 329–349.
15. Rosenberg H. Coarctation of the aorta: Morphology and pathogenesis considerations. In: H. S. Rosenberg, R. P. Bolande (eds.). Perspectives in Pediatric Pathology, vol. 1. Chicago: Year Book Medical Publishers Inc. 1973.
16. Bruneau B. G. The developmental genetics of congenital heart disease. Nature. 2008; 451 (7181): 943–948.
17. Clark E. B. Neck web and congenital heart defects: A pathogenic association in 45 X-O Turner syndrome? Teratology. 1984; 29: 355–361.
18. McBride K. L., Riley M. F., Zender G. A. et al. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum. Mol. Gen. 2008; 17 (18).
19. Loffredo C. A., Chokkalingam A., Sill A. M. et al. Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries. Am. J. Med. Genet. A. 2004; 124A (3): 225–230.
20. Cripe L., Andelfinger G., Martin L. J. et al. Bicuspid aortic valve is heritable. J. Am. Coll. Cardiol. 2004; 44 (1): 138–143.
21. McBride K. L., Pignatelli R., Lewin M. et al. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. Am. J. Med. Genet. A. 2005; 134: 180–186.
22. Dyer L. A., Kirby M. L. The role of secondary heart field in cardiac development. Developmental Biology. 2009; 336 (2): 137–144.
23. Rochais F., Mesbah K., Kelly R. G. Signaling pathways controlling second heart field development. Circ. Res. 2009; 104 (8): 933–942.
24. Bruneau B. G. The developmental genetics of congenital heart disease. Nature. 2008; 451 (7181): 943–948.
25. High F. A., Epstein J. A. The multifaceted role of Notch1 in cardiac development and disease. Nature Reviews. Genetics. 2008; 9: 49–61.
26. Pejtsik B., Pinter J., Horvath M. et al. Relationship between congenital heart disease and various factors affecting pregnancy. Orv. Hetil. 1992; 133 (3): 155–158.
Review
For citations:
Tatarinova T.N., Kostareva A.A., Grekhov E.V., Moiseeva O.M. THE ROLE OF THE HEREDITARY PREDISPOSITION IN THE DEVELOPMENT OF AORTA COARCTATION. Current Pediatrics. 2012;11(6):42-47. (In Russ.) https://doi.org/10.15690/vsp.v11i6.491
Views:
1017
Email this article 
