Interrupted aortic arch in children: An in-depth look at etiology, embryological mechanisms, and morphology (a literature review)
DOI:
https://doi.org/10.37800/RM.3.2023.80-85Keywords:
congenital heart defect (CHD), anatomy, interrupted aortic arch (IAA), epidemiologyAbstract
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.
References
Burbano-Vera N., Zaleski K.L., Latham G.J., Nasr V.G. Perioperative and anesthetic considerations in interrupted aortic arch // Semin. Cardiothorac. Vasc. Anesth. – 2018. –Vol. 22(3). – P. 270-277. https://doi.org/10.1177/1089253218775954
Andrianova E.I., Naimo P.S., Fricke T.A., Robertson T., Bullock A., Brink J., d’Udekem Y., Brizard C.P., Konstantinov I.E. Outcomes of interrupted aortic arch repair in children with biventricular circulation // Ann. Thorac. Surg. – 2021. – Vol. 111(6). – P. 2050-2058. https://doi.org/10.1016/j.athoracsur.2020.05.146
Bae S.B., Kang E.J., Choo K.S., Lee J., Kim S.H., Lim K.J., Kwon H. Aortic arch variants and anomalies: embryology, imaging findings, and clinical considerations // J. Cardiovasc. Imaging. – 2022. – Vol. 30(4). – P. 231-262. https://doi.org/10.4250/jcvi.2022.0058
Scott M., Neal A.E. Congenital heart disease // Prim. Care. – 2021. – Vol. 48(3). – P. 351-366. https://doi.org/10.1016/j.pop.2021.04.005
Hanneman K., Newman B., Chan F. Congenital variants and anomalies of the aortic arch // Radiographics. – 2017. – Vol. 37(1). – P. 32-51. https://doi.org/10.1148/rg.2017160033
Ramirez Alcantara J., Mendez M.D. Interrupted aortic arch. – Stat. Pearls Publishing, 2023. https://www.ncbi.nlm.nih.gov/books/NBK532902/
Onalan M.A., Temur B., Aydın S., Suzan D., Demir I.H., Odemis E., Erek E. Management of interrupted aortic arch with associated anomalies: a single-center experience // World J. Pediatr. Congenit. Heart Surg. – 2021. – Vol. 12(6). – P. 706-714. https://doi.org/10.1177/21501351211038508
Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease // Am. J. Med. Genet. – 2020. – Vol. 184 (1). – P. 64-72. https://doi.org/10.1002/ajmg.c.31774
Butensky A., De Rinaldis C.P., Patel S., Edman S., Bailey A., McGinn D.E., Zackai E., Crowley T.B., McDonald-McGinn D.M., Min J., Goldmuntz E. Cardiac evaluation of patients with 22q11.2 duplication syndrome // Am. J. Med. Genet. A. – 2021. – Vol. 185 (3). – P. 753-758. https://doi.org/10.1002/ajmg.a.62032
McDonald-McGinn D.M., Sullivan K.E., Marino B., Philip N., Swillen A., Vorstman J.A., Zackai E.H., Emanuel B.S., Vermeesch J.R., Morrow B.E., Scambler P.J., Bassett A.S. 22q11.2 deletion syndrome // Nat. Rev. Dis. Primers. – 2015. – Vol. 1. – Art. no. 15071. https://doi.org/10.1038/nrdp.2015.71
Aloqab F.W., Almajed M.R., Binsanad N.A., Al Amer S.R., Kalis N.N. Maternal diabetes as a teratogenic factor for congenital heart defects in infants of diabetic mothers // Birth Defects Res. – 2023. – Vol. 115(7). – P. 764-769.
Hirano Y., Masuyama H., Hayata K., Eto E., Nobumoto E., Hiramatsu Y. Prenatal Diagnosis of Interrupted Aortic Arch: Usefulness of Three-Vessel and Four-Chamber Views // Acta Med. Okayama. – 2016. – Vol. 70(6). – P. 485-491.
Jonas R.A. Management of interrupted aortic arch // Sem. Thorac. Cardiovasc. Surg. – 2015. – Vol. 27. – P. 177-188. https://doi.org/10.1053/j.semtcvs.2015.04.003
Bravo-Valenzuela N.J., Nacif M.S., Araujo Jr. E. Prenatal diagnosis of aortic arch anomalies: Echocardiography, 3D-ultrasonography, and computed tomography angiogram findings. A case report // J. Clin. Ultrasound. – 2021. – Vol. 49(4). – P. 423-427. https://doi.org/10.1002/jcu.22935
Friedman K. Preoperative physiology, imaging, and management of interrupted aortic arch // Semin. Cardiothorac. Vasc. Anesth. – 2018. – Vol. 22(3). – P. 265-269. https://doi.org/10.1177/1089253218770198
LaPar D.J., Baird C.W. Surgical considerations in interrupted aortic arch // Semin. Cardiothorac. Vasc. Anesth. – 2018. – Vol. 22(3). – P. 278-284. https://doi.org/10.1177/1089253218776664
Sanchez Mejia A.A., Cambronero N., Dongarwar D., Salihu H.M., Vigil-Mallette M.A., Garcia B.Y., Morris S.A. Hospital outcomes among infants with interrupted aortic arch with simple and complex associated heart defects // Am. J. Cardiol. – 2022. – Vol. 166. – P. 97-106. https://doi.org/10.1016/j.amjcard.2021.11.032
Cirillo A., Lioncino M., Maratea A., Passariello A., Fusco A., Fratta F., Monda E., Caiazza M., Signore G., Esposito A., Baban A., Versacci P., Putotto C., Marino B., Pignata C., Cirillo E., Giardino G., Sarubbi B., Limongelli G., Russo M.G. Clinical Manifestations of 22q11.2 Deletion Syndrome // Heart Fail. Clin. – 2022. – Vol. 18(1). – P. 155-164. https://doi.org/10.1016/j.hfc.2021.07.009
Langley S.M., Sunstrom R.E., Reed R.D., Rekito A.J., Gerrah R. The neonatal hypoplastic aortic arch: decisions and more decisions // Semin. Thorac. Cardiovasc. Surg. Pediatr. Card. Surg. Annu. – 2013. – Vol. 16(1). – P. 43-51. https://doi.org/10.1053/j.pcsu.2013.01.008
Lopes S.A.V.D.A., Guimarães I.C.B., Costa S.F.O., Acosta A.X., Sandes K.A., Mendes C.M.C. Mortality for Critical Congenital Heart Diseases and Associated Risk Factors in Newborns. A Cohort Study // Arq. Bras. Cardiol. – 2018. – Vol. 111(5). – P. 666-673. https://doi.org/10.5935/abc.20180175
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