Congenital Heart Defects in Patients with Anorectal Malformations: A Retrospective Cohort Study of 281 Patients

Overview

Journal Pediatr Cardiol

Specialties Cardiology & Vascular Diseases
Pediatrics

Date 2024 Jun 5

PMID 38836880

Authors

Cunera M C de Beaufort

Tara M Mackay

Markus F Stevens

Jorinde A W Polderman

Justin R de Jong

Annelies E van der Hulst

Bart Straver

Ramon R Gorter

Affiliations

Soon will be listed here.

Abstract

In patients born with anorectal malformations (ARM), additional congenital heart defects (CHD) can occur. We aimed to provide an overview on disease and treatment details of CHD identified in patients born with ARM, from a unique large cohort of a very rare disease. We performed a retrospective single-center cohort study between January 2000 and July 2023. All consecutive patients with ARM were included. Outcomes were the number of patients with CHD, and screening percentage and percentage of patients diagnosed with CHD over 3 time periods (2000-2006, 2007-2014, 2015-2023). We used uni- and multi-variable logistic regression analyses to search for associations between CHD present and baseline characteristics. In total, 281 patients were included. Some 241 (85.8%) underwent echocardiography, of whom 80 (33.2%) had CHD. Screening percentage with echocardiography increased (74.1% vs. 85.7% vs. 95.9%, p < 0.001) and percentage of patients diagnosed with CHD remained similar over time (30.2% vs. 34.5% vs. 34.0%, p = 0.836). Atrial and ventricular septal defects (n = 36, n = 29), and persistent left superior vena cava (n = 17) were most identified. The presence of VACTERL-association or a genetic syndrome was independently associated with the presence of CHD. CHD were present in 33% of patients with ARM that underwent echocardiography. Over time, the number of CHD identified through screening remained similar. Patients with the presence of VACTERL-association or a genetic syndrome had a higher risk of having CHD. Therefore, acknowledging the potential presence of CHD in patients with ARM remains important.

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References

Hageman I, van der Steeg H, Jenetzky E, Trajanovska M, King S, de Blaauw I . A Quality Assessment of the ARM-Net Registry Design and Data Collection. J Pediatr Surg. 2023; 58(10):1921-1928. DOI: 10.1016/j.jpedsurg.2023.02.049. View

van de Putte R, van Rooij I, Marcelis C, Guo M, Brunner H, Addor M . Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatr Res. 2019; 87(3):541-549. DOI: 10.1038/s41390-019-0561-y. View

Cuschieri A . Anorectal anomalies associated with or as part of other anomalies. Am J Med Genet. 2002; 110(2):122-30. DOI: 10.1002/ajmg.10371. View

Ratan S, Rattan K, Pandey R, Mittal A, Magu S, Sodhi P . Associated congenital anomalies in patients with anorectal malformations--a need for developing a uniform practical approach. J Pediatr Surg. 2004; 39(11):1706-11. DOI: 10.1016/j.jpedsurg.2004.07.019. View

Jonker J, Liem E, Elzenga N, Molenbuur B, Trzpis M, Broens P . Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects. J Pediatr. 2016; 179:150-153.e1. DOI: 10.1016/j.jpeds.2016.08.047. View

Spigel Z, Binsalamah Z, Caldarone C . Congenitally Corrected Transposition of the Great Arteries: Anatomic, Physiologic Repair, and Palliation. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2019; 22:32-42. DOI: 10.1053/j.pcsu.2019.02.008. View

Levitt M, Pena A . Anorectal malformations. Orphanet J Rare Dis. 2007; 2:33. PMC: 1971061. DOI: 10.1186/1750-1172-2-33. View

van der Steeg H, Schmiedeke E, Bagolan P, Broens P, Demirogullari B, Garcia-Vazquez A . European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations. Tech Coloproctol. 2015; 19(3):181-5. PMC: 4369584. DOI: 10.1007/s10151-015-1267-8. View

Tynan M, Becker A, Macartney F, Jimenez M, Shinebourne E, Anderson R . Nomenclature and classification of congenital heart disease. Br Heart J. 1979; 41(5):544-53. PMC: 482068. DOI: 10.1136/hrt.41.5.544. View

10.

Nasr A, McNamara P, Mertens L, Levin D, James A, Holtby H . Is routine preoperative 2-dimensional echocardiography necessary for infants with esophageal atresia, omphalocele, or anorectal malformations?. J Pediatr Surg. 2010; 45(5):876-9. DOI: 10.1016/j.jpedsurg.2010.02.002. View

11.

Gokhroo R, Gupta S, Arora G, Bisht D, Padmanabhan D, Soni V . Prevalence of congenital heart disease in patients undergoing surgery for major gastrointestinal malformations: an Indian study. Heart Asia. 2016; 7(1):29-31. PMC: 4832773. DOI: 10.1136/heartasia-2014-010561. View

12.

Feng W, Zhang M, Hou J, Die X, Wang Y, Liu R . Clinical characteristics of congenital heart defects in mild congenital anorectal malformation: single-centre experience. BMC Pediatr. 2024; 24(1):71. PMC: 10799376. DOI: 10.1186/s12887-023-04518-9. View

13.

Morton S, Brodsky D . Fetal Physiology and the Transition to Extrauterine Life. Clin Perinatol. 2016; 43(3):395-407. PMC: 4987541. DOI: 10.1016/j.clp.2016.04.001. View

14.

Nsah E, Moore G, Hutchins G . Pathogenesis of persistent left superior vena cava with a coronary sinus connection. Pediatr Pathol. 1991; 11(2):261-9. DOI: 10.3109/15513819109064763. View

15.

Michelena H, Della Corte A, Evangelista A, Maleszewski J, Edwards W, Roman M . International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes. J Thorac Cardiovasc Surg. 2021; 162(3):e383-e414. DOI: 10.1016/j.jtcvs.2021.06.019. View

16.

Postema P, Rammeloo L, van Litsenburg R, Rothuis E, Hruda J . Left superior vena cava in pediatric cardiology associated with extra-cardiac anomalies. Int J Cardiol. 2007; 123(3):302-6. DOI: 10.1016/j.ijcard.2006.12.020. View

17.

van de Putte R, Dworschak G, Brosens E, Reutter H, Marcelis C, Acuna-Hidalgo R . A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Front Pediatr. 2020; 8:310. PMC: 7324789. DOI: 10.3389/fped.2020.00310. View

18.

Ahn J, Choi H . Accompanied anomalies in anal atresia or tracheo-esophageal fistula: Comparison with or without VACTERL association. Birth Defects Res. 2021; 113(9):696-701. DOI: 10.1002/bdr2.1884. View

19.

Moras P, Zarfati A, Bagolan P, Conforti A, Toscano A, Iacobelli B . Anorectal malformations (ARM) and VACTERL association and severity of congenital heart diseases (CHD): Experience of 396 consecutive patients in a tertiary center. Pediatr Neonatol. 2024; 65(4):381-385. DOI: 10.1016/j.pedneo.2023.08.011. View

20.

Cunningham B, Hadley D, Hannoush H, Meltzer A, Niforatos N, Pineda-Alvarez D . Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 2013; 97(12):792-7. PMC: 10249417. DOI: 10.1002/bdra.23211. View