Author:
de Beaufort Cunera M. C.,Mackay Tara M.,Stevens Markus F.,Polderman Jorinde A. W.,de Jong Justin R.,van der Hulst Annelies E.,Straver Bart,Gorter Ramon R.
Abstract
AbstractIn 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.
Publisher
Springer Science and Business Media LLC
Reference26 articles.
1. Hageman IC, van der Steeg HJJ, Jenetzky E, Trajanovska M, King SK, de Blaauw I, van Rooij I (2023) A quality assessment of the ARM-net registry design and data collection. J Pediatr Surg 58(10):1921–1928
2. https://www.venvn.nl/media/wdcbacr4/kwaliteitsstandaard-anorectale-malformatie.pdf. Accessed 10 Aug 2023
3. van de Putte R, van Rooij I, Marcelis CLM, Guo M, Brunner HG, Addor MC et al (2020) Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatr Res 87(3):541–549
4. Kohlhase J. Townes-Brocks Syndrome. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle Copyright © 1993–2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993.
5. Cuschieri A (2002) Anorectal anomalies associated with or as part of other anomalies. Am J Med Genet 110(2):122–130