Clinical and epidemiological characteristics of congenital heart disease in patients with Down syndrome attended in a national pediatric institute in Peru, 2021-2023
DOI:
https://doi.org/10.58597/rpe.v4i1.106Keywords:
Heart Defects, Down Syndrome, Morbidity, Heart Failure, Cardiac CatheterizationAbstract
Objectives: To evaluate the clinical and epidemiological characteristics of congenital heart disease (CHD) in patients with Down syndrome (DS), to describe the treatment and to determine the complications in this group of patients attended at Instituto Nacional de Salud del Niño (INSN) Breña between 2021 and 2023. Materials and Methods: It is an observational, descriptive and retrospective study. Medical records of pediatric patients under 18 years with DS and a confirmed diagnosis of CHD were reviewed, using data from Gestión Med, a INSN program. Variables included the type of CHD, comorbidities, management (medical, surgical, or interventional), complications and mortality. Data analysis was performed using SPSS version 23. Results: From 456 patients with DS, 196 (42.9%) presented CHD, with a predominance of females (60.7%). The mean age was 3.6 years (0.5 - 13 years). Acyanotic CHDs were the most frequent (93.9%), particularly ventricular septal defect (51.1%). Surgical management was the predominant treatment (72.4%), followed by interventional (15.8%) and medical (11.8%) treatments. Overall mortality was 7.7%, and higher among medically treated patients (5.1%). Complications, such as pneumonia, arrhythmias, and sepsis were observed in 32.7% of patients. A 69.6% of cases with pneumonia required mechanical ventilation at the ICU. Conclusion: Acyanotic CHDs are the most frequent diseases in patients with DS, with a predominance of surgical management. Although overall mortality was low, severe complications such as pneumonia and sepsis are alarming. These findings provide key insights to optimize treatment, since they highlight the importance of multidisciplinary care and specialized follow-up in this group of patients.
Downloads
References
Aït Yahya-Graison E, Aubert J, Dauphinot L, Rivals I, Prieur M, Golfier G, et al. Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. Am J Hum Genet. 2007;81:475–491. doi: 10.1086/520000.
Peterson JK, Clarke S, Gelb BD, Kasparian NA, Kazazian V, et al. Trisomy 21 and congenital heart disease: Impact on Health and Functional Outcomes from Birth Through Adolescence: A Scientific Statement from the American Heart Association. J Am Heart Assoc. 2024; 13(19): e036214. doi: 10.1161/JAHA.124.036214.
Díaz -Cuéllar S, Yokoyama- Rebollar E, Del Castillo-Ruiz V. Genómica del síndrome de Down. Acta Pediatr Mex. 2016;37(5) :289-295. Disponible en: https://www.scielo.org.mx/pdf/apm/v37n5/2395-8235-apm-37-05-00289.pdf
Kaminker P. Síndrome de Down. Primera parte: enfoque clínico-genético. Arch Argentina Pediatr. 2008;106(3):249-59. Disponible en: http://www.scielo.org.ar/pdf/aap/v106n3/v106n3a11.pdf
Castillo J, Elías O, Human G. Cardiopatías congénitas asociadas a los síndromes cromosómicos más prevalentes: revisión de la literatura. Arch Peru Cardiol Cir Cardiovasc. 2021;2(3):187- 195. doi: 10.47487/apcyccv.v2i3.155.
Guio H, Poterico JA, Levano KS, Cornejo-Olivas M, Mazzetti P, Manassero-Morales G, et al. Genetics and genomics in Peru: Clinical and research perspective. Mol Genet Genomic Med. 2018; 6(6):873-886. doi: 10.1002/mgg3.533.
Santoro SL, Steffensen EH. Congenital heart disease in Down syndrome – A review of temporal changes. J Congenit Heart Dis. 2021; 5(1): 1-14. doi:10.1186/s40949-020-00055-7
Kim MA, Lee YS, Yee NH, Choi JS, Choi JY, Seo K. Prevalence of congenital heart defects associated with Down syndrome in Korea. J Korean Med Sci. 2014; 29(11):1544-9. doi: 10.3346/jkms.2014.29.11.1544.
. Sharaf R, Garout W, Sharaf R. Prevalence of Congenital Heart Defects in Individuals With Down Syndrome in Saudi Arabia: A Systematic Review and Meta-Analysis. Cureus. 2022;14(11):e31638. doi: 10.7759/cureus.31638
Dimopoulos K, Constantine A, Clift P, Condliffe R, Moledina S, Jansen K, et al. Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus. Circulation. 2023; 147(5):425-441. doi: 10.1161/CIRCULATIONAHA.122.059706.
Arias-Lobo R, Lupinta-Paredes E, Calderón-Colmenero J, Cervantes-Salazar J, García-Montes J, Patiño-Bahena E, et al. Abordaje terapéutico de cardiopatías congénitas en el síndrome de Down. Arch. Cardiol. Méx. 2023; 93(3): 294-299. Disponible en: https://www.archivoscardiologia.com/files/acm_23_93_3_294-299.pdf
Bravo-Jaimes K, Lozano D, Orozco J, Rosales W, Macedo N, Medina M, et al. Tamizaje neonatal de cardiopatías congénitas críticas en el Perú: un llamado de urgencia. Arch Peru Cardiol Cir Cardiovasc. 2024;5(3):157-166. doi: 10.47487/apcyccv.v5i3.366
Arriola-Montenegro J, Coronado-Quispe J, Mego JC, Luis-Ybáñez O, Tauma-Arrué A, Chavez-Saldivar S, et al. Congenital heart disease-related mortality during the first year of life: the Peruvian experience. Int J Cardiol Congenit Heart Dis. 2024; 83(13), Suppl A. doi: 10.1016/j.ijcchd.2024.100557.
Uribe A , Díaz-Vélez C, Cerrón-Rivera C. Características epidemiológicas y clínicas de las cardiopatías congénitas en menores de 5 años del Hospital Almanzor Aguinaga Asenjo. Enero - Diciembre 2012. Horiz Med. 2015;15(1):49-56. Disponible en: http://www.scielo.org.pe/pdf/hm/v15n1/a07v15n1.pdf
Cueva-Ortega L, Montenegro-Castro, D. Características de las cardiopatías congénitas en infantes con síndrome de Down en un hospital de Chiclayo, Perú: Characteristics of congenital heart disease in infants with Down syndrome in a hospital in Chiclayo, Peru. REV. EXP. MED. 10(4). doi:10.37065/rem.v10i4.796
Diogenes TCP, Mourato FA, de Lima Filho JL, Mattos SDS. Gender differences in the prevalence of congenital heart disease in Down's syndrome: a brief meta-analysis. BMC Med Genet. 2017; 18(1):111. doi: 10.1186/s12881-017-0475-7.
Ruz-Montes M, Cañas-Arenas E, Lugo-Posada M, Mejía-Carmona M, Zapata-Arismendy M, Ortiz-Suárez L, et al. Cardiopatías congénitas más frecuentes en niños con síndrome de Down. Rev. Colomb Cardiol. 2017;24(1):66-70. doi: 10.1016/j. rccar.2016.06.014
De Rubens J, Del Pozzo B, Pablos J, Calderón C, Castrejón R. Malformaciones cardíacas en los niños con síndrome de Down. Rev Esp Cardiol. 2003;56(9): 94-96. Disponible en: https://www.revespcardiol.org/es-malformaciones-cardiacas-ninos-con-sindrome-articulo-13051617
Bermudez BE, Medeiros SL, Bermudez MB, Novadzki IM, Magdalena NI. Down syndrome: Prevalence and distribution of congenital heart disease in Brazil. Sao Paulo Med J. 2015; 133(6):521-4. doi: 10.1590/1516-3180.2015.00710108.
Morán-Barroso VF., Cervantes A, García-Cavazos RJ, Queipo G, Briones-Garduño JC, Coronel-Cruz F, et al. Genetic aspects in the medical approach of congenital heart defects. Rev. med. Hosp. Gen. Méx. 2020; 83(2): 75-87. doi: 10.24875/hgmx.19000023.
Lim TB, Foo SYR, Chen CK. The Role of Epigenetics in Congenital Heart Disease. Genes (Basel). 2021; 12(3):390. doi: 10.3390/genes12030390.
Gutiérrez A, Marín M, De Arriba A. Síndrome de Down: incidencia actual y comorbilidades. Med Clin (Barc). 2019;154(8). doi: 10.1016/j.medcli.2019.02.017
Wagdy R. The role of diagnostic cardiac catheterization for children with congenital heart diseases: local experience. Arch Med Sci Atheroscler Dis. 2018;(3):e72-e79. doi: 10.5114/amsad.2018.76824.
Sun R, Liu M, Lu L, Zheng Y, Zhang P. Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments. Cell Biochem Biophys. 2015; 72(3):857-60. doi: 10.1007/s12013-015-0551-6.
Calderón-Colmenero J, Flores A, Ramírez S, Patiño-Bahena E, Zabal C, García-Montes J et al. Resultados en la corrección quirúrgica de la cardiopatía congénita en el síndrome de Down. Arch. Cardiol. Méx. 2004; 74 (1): 39-44. Disponible en: https://www.scielo.org.mx/pdf/acm/v74n1/n1a05.pdf
Clavería C, Cerda J, Becker P, Schiele C, Barreno B, Urcelay G, et al. Mortalidad operatoria y estratificación de riesgo en pacientes pediátricos operados de cardiopatía congénita: experiencia de 10 años. Rev Chil Cardiol. 2014; 33 (1): 11-19. doi: 10.4067/S0718-85602014000100001.
Juaneda E, Juaneda I, Azar I, Rodríguez R, Ferrero J, Bustamante, P. Cuantificación de resultados en cirugía de cardiopatía congénita 2012-2015: cuatro años de experiencia con el programa colaborativo internacional de mejoría de calidad. Revista argentina de cardiología, 2018, 86(4), 10-20. Disponible en: https://www.redalyc.org/articulo.oa?id=305360755003
Sola A, Rodríguez S, Young A, Lemus Varela L, Villamayor RM, Cardetti M, et al. CCHD Screening Implementation Efforts in Latin American Countries by the Ibero American Society of Neonatology (SIBEN). Int J Neonatal Screen. 2020;6(1):21. doi: 10.3390/ijns6010021.
Olney RS, Ailes EC, Sontag MK. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening. Semin Perinatol. 2015;39(3):230-7. doi: 10.1053/j.semperi.2015.03.007.
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Jose Gonzales-Celadita, Sheyla del Carmen Reyes-Laserna , Carlos Mariño-Vigo
This work is licensed under a Creative Commons Attribution 4.0 International License.
