Interrupted aortic arch in children: An in-depth look at etiology, embryological mechanisms, and morphology (a literature review)

Relevance: Congenital heart defects (CHD) account for one-third of all congenital malformations and occur in 0.7-1.7% of newborns. Interrupted aortic arch (IAA) is quite rare, accounting for 1% of CHD. IAA is an unusual shape of critical neonatal heart disease in which there is a lack of continuity between the ascending aorta and the descending thoracic aorta. IAA is almost always severe in the neonatal period and requires urgent corrective surgery.This study aimed to identify gaps in knowledge, suggest directions for in-depth research through critical analysis, and improve our understanding of risk factors and mechanisms of embryology that contribute to aortic arch interruption to improve the approach to diagnosis and treatment.Materials and Methods: A literature search was conducted in electronic databases PubMed, MEDLINE, Web of Science, Google Scholar, and e-library. The review covered 20 sources meeting the inclusion criteria.Results: We systematize the available literature data on embryology and risk factors to improve the IAA diagnosis and treatment approach. We found that aorta development begins at Week 3 of pregnancy, and the main factor in further IAA etiology is the chromosomal deletion 22q11.2.Conclusion: Understanding the timeline during early embryonic development plays a critical role in aortic arch formation. Abnormalities occurring in this period, such as chromosomal deletions, may contribute to IAA. This finding highlights the importance of genetic factors in the etiology of this condition and the potential for genetic screening and counseling for individuals with chromosomal abnormalities, especially those in the 22q11.2 region.