Epidemiological, clinical and genetic characteristics of esophageal atresia (review)

• Yu.V. Vydrych
• N.S. Demikova
• Yu.N. Filyushkin
• A.E. Mashkov
• S.G. Kalinenkova
• A.Yu. Asanov

Abstract

Esophageal atresia (EA) and/or tracheo-esophageal (TEF) fistula are relatively common malformations occurring in approximately 1 in 3500 births. Data from twin and family studies suggest that genetic factors do not play a major role, and yet there are well-defined instances of this malformation where genetic factors clearly are important. This is highlighted by the recent identification of no fewer than three separate genes with a role in the etiology of esophageal atresia: those for Feingold syndrome (N-MYC), anophthalmia-esophageal-genital (AEG) syndrome (SOX2), and CHARGE syndrome (CHD7).

Purpose. Consider EA epidemiological, clinical and genetics characteristics. This paper reviews current knowledge of the genetics and epidemiology of the different esophageal atresia/tracheo-esophageal fistula syndromes and associations.

Results. In this review there were analyzed more than 15 foreign sources, which presents current knowledge of the etiology, epidemiology and phenotypic manifestations of states with esophageal atresia.

Conclusion. The refinement of our knowledge of genetic etiologies in EA/TEF is likely to have implications for future epidemiological studies. One goal of epidemiological research in this area is to try to identify geographical or temporal trends in the birth frequency of EA/TEF in order to gain clues about possible contributing environmental factors.

Keywords:congenital malformations, esophageal atresia, epidemiology, frequency

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