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CC BY-NC-ND 4.0 · Revista Urología Colombiana / Colombian Urology Journal 2022; 31(04): e143-e148
DOI: 10.1055/s-0042-1746203
Original Article | Artículo Original

Association between Genitourinary and Congenital Heart Defects: A 52-year Case-Control Study of the Latin American Collaborative Study of Congenital Malformations (ECLAMC)

Asociación entre cardiopatías congénitas y malformaciones congénitas urinarias: Un estudio de casos y controles de 52 años del Estudio Colaborativo Latino Americano de Malformaciones Congénita
Nicolas Fernandez
1   Division of Urology, Department of Pediatric Urology, Seattle Children's Hospital, University of Washington, Seattle, Washington, United States
,
Daniela Varela
2   Research Department, Hospital Universitario San Ignacio, Bogotá, Colombia
,
Juliana Villanueva
2   Research Department, Hospital Universitario San Ignacio, Bogotá, Colombia
,
Jorge Lopez Camelo
3   Latin American Collaborative Study of Congenital Malformations (ECLAMC), Center for Medical Education and Clinical Research (CEMIC-CONICET), Buenos Aires, Argentina
,
Ignacio Zarante
4   Human Genetics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia
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Abstract

Background Congenital urological anomalies are present in 4.3/10 thousand newborns, and their association with other anomalies may increase the overall mortality and disability. The present study establishes the risk of having congenital urological anomalies presenting associated cardiopathies.

Methods We conducted a retrospective case-control study using the Latin American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, ECLAMC, in Spanish). The analysis included all registered cases of congenital urological malformation from 1967 to 2019. Patients with or without associated heart defects were included for the statistical analysis. Odds ratios (ORs) were calculated using a 95% confidence interval (95% CI). We compared the variables with the Chi-squared test and analysis of variance (ANOVA). The statistical analysis was performed using the Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, United States) software, version 27.0. Values of p < 0.05 were considered statistically significant.

Results A total of 7,767,161 newborns were evaluated, and 17,834 genital and upper urinary tract malformations were identified. Of these, 64.2% were genital anomalies, and 35.8% were abnormalities of the upper urinary tract. Genitourinary malformations and concomitant congenital heart defects (GU + C) were observed in 3.5% of the cases. Subjects with GU + C had a higher number of malformations (4.59 ± 2.3) than patients without heart defects (1.53 ± 1.58) (p < 0.000). The OR was of 3.61 (range: 1.86–7.00) for cloacal exstrophy, of 4.01 (range: 3.14–5.12) for imperforate anus, of 5.52 (range: 3.92–7.78) for horseshoe kidney, and of 13.7 (range: 6.65–28.22) for trisomy 21 (Down syndrome) with malformations of the upper urinary tract.

Conclusion The association of congenital heart defects with urological anomalies is higher for complex congenital anomalies such as imperforate anus, cloacal exstrophy, and horseshoe kidney. Patients with urological abnormalities and Down syndrome have the highest likelihood.

Resumen

Introducción Las malformaciones congénitas urológicas están presentes en 4,3/10 mil, y su asociación con otros defectos puede aumentar la mortalidad global y la discapacidad. Este estudio analiza la presentación de las malformaciones congénitas urológicas asociadas a las cardiopatías congénitas.

Métodos Este es un estudio retrospectivo de casos y controles que usa el Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC). Se incluyeron todos los casos registrados de malformaciones congénitas urológicas de 1967 a 2019, y todos los casos con y sin defectos cardiacos. Se calculó la razón de disparidad (RD) usando un intervalo de confianza del 95% (IC 95%). Se probó la hipótesis con el Chi-cuadrado y análisis de la varianza (analysis of variance, ANOVA, en inglés). Se realizó el análisis estadístico por medio del programa Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, Estados Unidos), versión 27.0. Se consideró la significancia estadística con valores de p < 0,05.

Resultados Se evaluaron 7.767.161 recién nacidos, y se identificaron 17.834 malformaciones genitales y del tracto urinario superior. De estas, 64,2% fueron genitales, y 35,8%, de vías urinarias superiores. El 3,5% de los casos tenían malformaciones genitourinarias y defectos cardiacos congénitos concomitantes (GU + C). Aquellos con GU + C tenían mayor número de malformaciones (4,59 ± 2,3) que los pacientes sin defectos cardiacos (1,53 ± 1,58) (p < 0,000). La RD fue de 3.61 (rango: 1,86–700) para la extrofia cloacal, de 4,01 (3,14–5,12) para el ano imperforado, de 5,52 (3,92–7,78) para el riñón en herradura, y de 13,7 (6,65–28,22) para la trisomía 21 (síndrome de Down) con malformaciones del tracto urinario superior.

Conclusión La asociación entre defectos cardiacos congénitos y anomalías urológicas es significativa en malformaciones congénitas complejas como el ano imperforado, la extrofia cloacal, y el riñón en herradura. Los pacientes con síndrome de Down y malformaciones urológicas tienen la mayor probabilidad.

Keywords

congenital heart defect - congenital - hereditary and neonatal diseases and abnormalities - Down syndrome - CAKUT - urologic diseases - urological manifestations

Palabras clave

defecto cardíaco congénito - congénito - anomalías hereditarias y neonatales - Síndrome de Down - CAKUT - manifestaciones urológicas - Enfermedades urológicas

Ethical Approval

The present study did not need approval from the ethics committee. The procedures used herein adhere to the Declaration of Helsinki.


Authorship

All authors made substantial contributions to all stages of the development of the present investigation and approved the final version to be published.




Publication History

Received: 08 January 2022

Accepted: 07 March 2022

Article published online:
28 December 2022

© 2022. Sociedad Colombiana de Urología. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Fernández N, Henao-Mejía J, Monterrey P, Pérez J, Zarante I. Association between maternal prenatal vitamin use and congenital abnormalities of the genitourinary tract in a developing country. J Pediatr Urol 2012; 8 (02) 121-126
    CrossrefPubMedGoogle Scholar
  • 2 Barakat A. Association of congenital anomalies of the kidney and urinary tract with those of other organ systems: Clinical implications. Nephrol Ren Dis 2020
    PubMedGoogle Scholar
  • 3 Alp EK, Dönmez Mİ, Alp H, Elmacı AM. The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children. Congenit Anom (Kyoto) 2022; 62 (01) 4-10
    CrossrefPubMedGoogle Scholar
  • 4 Atić N, Begić H, Ibrahimović J, Zulić S, Osmanović E. Cardiac evaluation of children with congenital anomalies of the kidneys and urinary tract. Paediatr Today (Tuzla) 2016; 12 (01) 169-175
    CrossrefPubMedGoogle Scholar
  • 5 Danziger P, Berman DR, Luckritz K, Arbour K, Laventhal N. Severe congenital anomalies of the kidney and urinary tract: epidemiology can inform ethical decision-making. J Perinatol 2016; 36 (11) 954-959
    CrossrefPubMedGoogle Scholar
  • 6 Nakanishi K, Yoshikawa N. Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT). Pediatr Int 2003; 45 (05) 610-616
    CrossrefPubMedGoogle Scholar
  • 7 Goley SM, Sakula-Barry S, Adofo-Ansong N. et al. Investigating the use of ultrasonography for the antenatal diagnosis of structural congenital anomalies in low-income and middle-income countries: a systematic review. BMJ Paediatr Open 2020; 4 (01) e000684
    CrossrefPubMedGoogle Scholar
  • 8 García MA, Imbachí L, Hurtado PM, Gracia G, Zarante I. Ultrasound detection of congenital anomalies in 76,155 births in the cities of Bogotá and Cali, 2011–2012. Biomedica 2014; 34 (03) 379-386
    PubMedGoogle Scholar
  • 9 Poletta FA, Gili JA, Castilla EE. Latin American Collaborative Study of Congenital Malformations (ECLAMC): A Model for Health Collaborative Studies. Public Health Genomics 2014; 17: 61-67 DOI: 10.1159/000356568.
    CrossrefPubMedGoogle Scholar
  • 10 Boyle B, Addor MC, Arriola L. et al. Estimating Global Burden of Disease due to congenital anomaly: An analysis of European data. Arch Dis Child 2017; •••: 22-28
    PubMedGoogle Scholar
  • 11 Zarante I, Franco L, López C, Fernández N. Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas [Frequencies of congenital malformations: assessment and prognosis of 52,744 births in three cities of Colombia]. Biomedica 2010 Jan-Mar;30(1):65-71. Spanish. PMID: 20890551
    PubMedGoogle Scholar
  • 12 Capraro VJ. Congenital anomalies. Clin Obstet Gynecol 1971; 14 (04) 988-1012
    CrossrefPubMedGoogle Scholar
  • 13 Li ZY, Chen YM, Qiu LQ, Chen DQ, Hu CG, Xu JY, Zhang XH. et al. Prevalence, types, and malformations in congenital anomalies of the kidney and urinary tract in newborns: a retrospective hospital-based study. Ital J Pediatr 2019 Apr 18;45(1):50. doi: 10.1186/s13052-019-0635-9. PMID: 30999930; PMCID: PMC6472003.
    PubMedGoogle Scholar
  • 14 Jiang D, Wang Q, Shi Z, Sun J. Congenital Anomalies of the Kidney and Urinary Tract in Children with Congenital Heart Defects. Kidney Blood Press Res 2020; 45 (02) 307-313
    CrossrefPubMedGoogle Scholar
  • 15 Higashi H, Barendregt JJ, Kassebaum NJ, Weiser TG, Bickler SW, Vos T. The burden of selected congenital anomalies amenable to surgery in low and middle-income regions: cleft lip and palate, congenital heart anomalies and neural tube defects. Arch Dis Child 2015; 100 (03) 233-238
    CrossrefPubMedGoogle Scholar
  • 16 San Agustin JT, Klena N, Granath K, Panigrahy A, Stewart E, Devine W, Strittmatter L, Jonassen JA, Liu X, Lo CW, Pazour GJJ. et al. Genetic link between renal birth defects and congenital heart disease. Nat Commun 2016 Mar 22;7:11103. doi: 10.1038/ncomms11103. Erratum in: Nat Commun. 2016 Jun 08;7:11910. PMID: 27002738; PMCID: PMC4804176.
    PubMedGoogle Scholar
  • 17 Chen C-P. Syndromes and disorders associated with omphalocele (II): OEIS complex and Pentalogy of Cantrell. Taiwan J Obstet Gynecol 2007; 46 (02) 103-110
    CrossrefPubMedGoogle Scholar