The new guidelines for the treatment and management of aortopathy in children
DOI:
https://doi.org/10.13112/pc.1081Keywords:
AORTIC DISEASES, RISK FACTORS, GENETICS, SURGICAL PROCEDURES, OPERATIVEAbstract
Aortopathies represent a diverse group of pathological conditions affecting the aorta and its branches with an increased risk for aneurysm formation, dissection, or rupture. In children, in contrast with adults, aortopathies are usually caused by genetic causes or congenital heart defects. Although aortic dissection is rare in children, it is a life-threatening event. Early diagnosis, regular surveillance, and timely treatment are crucial for optimal management and prevention of adverse outcomes. This review provides an overview of the etiology of thoracic aortopathies in pediatric patients and offers parameters to consider for pharmacologic therapy and elective aortic surgery in children, taking into account factors such as aortic size, genetic subtypes and additional high-risk factors as phenotypic features or family history.
References
1. Morris SA, Flyer JN, Yetman AT, et al. Cardiovascular management of aortopathy in children: a scientific statement from the American Heart Association. Circulation. 2024;150(10):e228–e254. doi: 10.1161/CIR.0000000000001265.
2. Muiño-Mosquera L, Cervi E, De Groote K, et al. Management of aortic disease in children with FBN1-related Marfan syndrome. Eur Heart J. 2024;45(39):4156–4169. doi: 10.1093/eurheartj/ehae526.
3. Lai WW, Geva T, Shirali GS, et al. Guidelines and standards for performance of a pediatric echocardiogram. J Am Soc Echocardiogr. 2006;19(12):1413–1430. doi: 10.1016/j.echo.2006.09.001.
4. Lopez L, Colan SD, Frommelt PC, et al. Recommendations for quantification methods during the performance of a pediatric echocardiogram. J Am Soc Echocardiogr. 2010;23(5):465–495; quiz 576. doi: 10.1016/j.echo.2010.03.019.
5. Boston Children’s Hospital Heart Center. Boston Z-score calculator. Available from: https://zscore.chboston.org.
6. Lopez L, Frommelt PC, Colan SD, et al. Pediatric Heart Network echocardiographic Z scores: comparison with other published models. J Am Soc Echocardiogr. 2021;34(3):185–192. doi: 10.1016/j.echo.2020.09.019.
7. Morris SA, Orbach DB, Geva T, Singh MN, Gauvreau K, Lacro RV. Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders. Circulation. 2011;124(3):388–396. doi: 10.1161/CIRCULATIONAHA.110.990549.
8. Franken R, el Morabit A, de Waard V, et al. Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome. Int J Cardiol. 2015;194:7–12. doi: 10.1016/j.ijcard.2015.05.072.
9. Hicks KL, Byers PH, Quiroga E, Pepin MG, Shalhub S. Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center. J Vasc Surg. 2018;68(3):701–711. doi: 10.1016/j.jvs.2017.12.023.
10. Overwater E, Marsili L, Baars MJH, et al. Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Hum Mutat. 2018;39(9):1173–1192. doi: 10.1002/humu.23565.
11. Proost D, Vandeweyer G, Meester JAN, et al. Performant mutation identification using targeted next-generation sequencing of 14 thoracic aortic aneurysm genes. Hum Mutat. 2015;36(9):808–814. doi: 10.1002/humu.22802.
12. Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, et al. Clinical utility of a next-generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. Am J Med Genet A. 2015;167(8):1747–1757. doi: 10.1002/ajmg.a.37085.
13. Shores J, Berger KR, Murphy EA, Pyeritz RE. Progression of aortic dilatation and the benefit of long-term β-adrenergic blockade in Marfan’s syndrome. N Engl J Med. 1994;330(19):1335–1341. doi: 10.1056/NEJM199405123301902.
14. Groenink M, den Hartog AW, Franken R, et al. Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J. 2013;34(45):3491–3500. doi: 10.1093/eurheartj/eht334.
15. Lacro RV, Dietz HC, Sleeper LA, et al. Atenolol versus losartan in children and young adults with Marfan’s syndrome. N Engl J Med. 2014;371(22):2061–2071. doi: 10.1056/NEJMoa1404731.
16. Milleron O, Arnoult F, Ropers J, et al. Marfan Sartan: a randomized, double-blind, placebo-controlled trial. Eur Heart J. 2015;36(32):2160–2166. doi: 10.1093/eurheartj/ehv151.
17. Sandor GGS, Alghamdi MH, Raffin LA, et al. A randomized, double-blind pilot study to assess the effects of losartan vs. atenolol on the biophysical properties of the aorta in patients with Marfan and Loeys-Dietz syndromes. Int J Cardiol. 2015;179:470–475. doi: 10.1016/j.ijcard.2014.11.082.
18. Forteza A, Evangelista A, Sanchez V, et al. Efficacy of losartan vs. atenolol for the prevention of aortic dilation in Marfan syndrome: a randomized clinical trial. Eur Heart J. 2016;37(12):978–985. doi: 10.1093/eurheartj/ehv575.
19. Muiño-Mosquera L, De Nobele S, Devos D, Campens L, De Paepe A, De Backer J. Efficacy of losartan as add-on therapy to prevent aortic growth and ventricular dysfunction in patients with Marfan syndrome: a randomized, double-blind clinical trial. Acta Cardiol. 2017;72(5):1–9. doi: 10.1080/00015385.2017.1314134.
20. Mullen M, Jin XY, Child A, et al. Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomized trial. Lancet. 2020;394(10216):2263–2270. doi: 10.1016/S0140-6736(19)32518-8.
21. Pitcher A, Spata E, Emberson J, et al. Angiotensin receptor blockers and β-blockers in Marfan syndrome: an individual patient data meta-analysis of randomized trials. Lancet. 2022;400(10353):822–831. doi: 10.1016/S0140-6736(22)01534-3.
22. Ong K-T, Perdu J, De Backer J, et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomized, open, blinded-endpoints trial. Lancet. 2010;376(9751):1476–1484. doi: 10.1016/S0140-6736(10)60960-9.
23. Flyer JN, Sleeper LA, Colan SD, Singh MN, Lacro RV. Effect of losartan or atenolol on children and young adults with bicuspid aortic valve and dilated aorta. Am J Cardiol. 2021;144:111–117. doi: 10.1016/j.amjcard.2020.12.050.
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Dalibor Šarić

This work is licensed under a Creative Commons Attribution 4.0 International License.
By publishing in Paediatria Croatica, authors retain the copyright to their work and grant others the right to use, reproduce, and share their research articles in accordance with the Creative Commons Attribution License (CC BY 4.0), which allows others to distribute and build upon the work as long as they credit the author for the original creation.