Bibliographic survey of the main congenital heart disease associated with Down Syndrome in Brazil

Authors

DOI:

https://doi.org/10.33448/rsd-v11i6.29167

Keywords:

Down syndrome; Heart septal defects; Tetralogy of Fallot; Teaching.

Abstract

This research presents itself as a bibliographic review study with the main objective of understanding the main congenital heart diseases in patients with Down Syndrome and pointing out new updates on the subject. Down Syndrome (DS) is a genetic condition that can lead to severe physical and cognitive disabilities. Currently, most people with the disease do not have major difficulties in daily life and lead a relatively normal life as a result of the advancement and support of medicine. However, there are diseases that are more prevalent in DS when compared to the general population. With this, it is of great importance to point out what these diseases are and how they interfere in daily life so that these patients are provided with better living and health conditions. Congenital heart disease is the most prevalent comorbidity associated with Down Syndrome, with atrioventricular septal defect (AVSD) being the most common malformation. This alteration is caused as a result of the impediment of fusion of the embryonic endocardial cushions. Other malformations found in less prevalence are atrial septal defect (ASD), ventricular septal defect (IVC) and Tetralogy of Fallot. In-hospital mortality was significantly lower in populations undergoing cardiac intervention in heart diseases with lower proportions of cardiac arrest and less need for ECMO during hospitalization. The prevalence of heart disease in patients with Down Syndrome is notorious, however, further research is crucial to better understand its etiology.

References

Ackerman, C., Locke, A. E, Feingold, E., Reshey, B., Espana, K., Thusberg, J., & Maslen, C. L. (2012). Excesso de variantes deletérias nos genes da via VEGF-A em defeitos do septo atrioventricular associados à síndrome de Down. The American Journal of Human Genetics, 91 (4), 646-659.

Alldred, S. K., Takwoingi, Y., Guo, B., Pennant, M., Deeks, J. J., Neilson, J. P., & Alfirevic, Z. (2015). First trimester serum tests for Down's syndrome screening. Cochrane Database of Systematic Reviews, (11).

Athanasiadis, D. I., Mylonas, K. S., Kasparian, K., Ziogas, I. A., Vlachopoulou, D., Sfyridis, P. G., ... & Avgerinos, D. V. (2019). Surgical outcomes in syndromic tetralogy of fallot: a systematic review and evidence quality assessment. Pediatric Cardiology, 40(6), 1105-1112.

Baban, A., Olivini, N., Cantarutti, N., Calì, F., Vitello, C., Valentini, D., & Drago, F. (2020). As diferenças na morbidade e mortalidade na síndrome de Down estão relacionadas ao tipo de defeito cardíaco congênito. American Journal of Medical Genetics Parte A , 182 (6), 1342-1350.

Bermudez, B. E. B. V., Medeiros, S. L., Bermudez, M. B., Novadzki, I. M., & Magdalena, N. I. R. (2015). Síndrome de Down: prevalência e distribuição de cardiopatia congênita no Brasil. Sao Paulo Medical Journal, 133, 521-524.

Burstein, D. S., Gray, P. E., Griffis, H. M., Glatz, A. C., Cohen, M. S., Gaynor, J. W., & Goldberg, D. J. (2019). Preoperative clinical and echocardiographic factors associated with surgical timing and outcomes in primary repair of common atrioventricular canal defect. Pediatric Cardiology, 40(5), 1057-1063.

Chernus, J. M., Allen, E. G., Zeng, Z., Hoffman, E. R., Hassold, T. J., Feingold, E., & Sherman, S. L. (2019). A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21. PLoS Genetics, 15(12), e1008414.

Cooper, A., Sisco, K., Backes, C. H., Dutro, M., Seabrook, R., Santoro, S. L, & Cua, C. L. (2019). Utilidade da ecocardiografia pós-natal em pacientes com síndrome de down com ecocardiograma fetal normal. Pediatric Cardiology, 40 (8), 1716-1721.

Dhillon, G. S., Ghanayem, N. S., Broda, C. R., Lalani, S. R., Mery, C. M., Shekerdemian, L. S., & Morris, S. A. (2020, December). An analysis of hospital mortality after cardiac operations in children with down syndrome. In Seminars in Thoracic and Cardiovascular Surgery 32(4), 947-957.

Duchon, A., Raveau, M., Chevalier, C., Nalesso, V., Sharp, A. J, & Herault, Y. (2011). Identificação dos pontos de interrupção de translocação nas linhas de camundongos Ts65Dn e Ts1Cje: relevância para a modelagem da síndrome de Down. Mammalian Genome , 22 (11), 674-684.

Diogenes, T. C. P., Mourato, F. A., de Lima Filho, J. L., & Mattos, S. D. S. (2017). Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis. BMC medical genetics, 18(1), 1-5.

Gusmão, F. A., Tavares, E. J., & Moreira, L. M. D. A. (2003). Idade materna e síndrome de Down no Nordeste do Brasil. Cadernos de Saúde Pública, 19(4), 973-978.

Hartway, S. (2009). A parent's guide to the genetics of Down syndrome. Advances in Neonatal care, 9(1), 27-30.

Hu, H., Jiang, Y., Zhang, M., Liu, S., Hao, N., Zhou, J., & Ma, L. (2017). A prospective clinical trial to compare the performance of dried blood spots prenatal screening for Down’s syndrome with conventional non-invasive testing technology. Experimental Biology and Medicine, 242(5), 547-553.

Mahadevaiah, G., Gupta, M., & Ashwath, R. (2015). Síndrome de Down com defeito do septo atrioventricular completo, cardiomiopatia hipertrófica e estenose das veias pulmonares. Texas Heart Institute Journal, 42 (5), 458-461.

Morales‐Demori, R. (2017). Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome. Congenital Heart Disease, 12(6), 820-827.

Parker, S. E., Mai, C. T., Canfield, M. A., Rickard, R., Wang, Y., Meyer, R. E., ... & National Birth Defects Prevention Network. (2010). Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Research Part A: Clinical and Molecular Teratology, 88(12), 1008-1016.

Patterson, D., & Costa, A. (2005). Down syndrome and genetics—a case of linked histories. Nature Reviews Genetics, 6(2), 137-147.

Peterson, J. K., Kochilas, L. K., Knight, J., McCracken, C., Thomas, A. S., Moller, J. H., & Setty, S. P. (2021). Long-term survival and causes of death in children with trisomy 21 after congenital heart surgery. The Journal of Pediatrics, 231, 246-253.

Pires, A. B., Bonfim, D., & Bianchi, L. C. A. P. (2007). Inclusão social da pessoa com síndrome de down: uma questão de profissionalização. Arq Ciênc Saúde, 14(4), 203-210.

Rambo-Martin, B. L., Mulle, J. G., Cutler, D. J., Bean, L. J., Rosser, T. C., Dooley, K. J., & Zwick, M. E. (2018). Analysis of copy number variants on chromosome 21 in Down syndrome-associated congenital heart defects. G3: genes, genomes, genetics, 8(1), 105-111.

Santoro, M., Coi, A., Spadoni, I., Bianchi, F., & Pierini, A. (2018). Sex differences for major congenital heart defects in Down Syndrome: A population based study. European journal of medical genetics, 61(9), 546-550.

Silva, N. L. P., & Dessen, M. A. (2002). Síndrome de Down: etiologia, caracterização e impacto na família. Interação em psicologia, 6(2).

Souza, M. T. D., Silva, M. D. D., & Carvalho, R. D. (2010). Revisão integrativa: o que é e como fazer. Einstein (São Paulo), 8, 102-106.

Tidrenczel, Z., Hajdu, J., Simonyi, A., Szabó, I., Ács, N., Demeter, J., & Beke, A. (2021). As tendências no diagnóstico pré-natal de trissomia 21 mostram idade materna mais jovem e mudança na distribuição de cardiopatia congênita em um período de 20 anos. American Journal of Medical Genetics Parte A , 185 (6), 1732-1742.

Trevino, CE, Holleman, AM, Corbitt, H., Maslen, CL, Rosser, TC, Cutler, DJ, ... & Zwick, ME (2020). Identificar fatores genéticos que contribuem para o aumento do risco de defeitos cardíacos congênitos em bebês com síndrome de Down. Relatórios científicos, 10 (1), 1-12.

Vergales, J., Seckeler, M. D., Chew, J., & Gangemi, J. (2019). Prevalence of culture-negative fever in infants with Down syndrome undergoing cardiac surgery. World Journal for Pediatric and Congenital Heart Surgery, 10(5), 599-603.

Versacci, P., Di Carlo, D., Digilio, MC, & Marino, B. (2018). Doença Cardiovascular na Síndrome de Down. Opinião atual em pediatria, 30 (5), 616-622.

Wu, J., & Morris, J. K. (2013). Trends in maternal age distribution and the live birth prevalence of Down’s syndrome in England and Wales: 1938–2010. European Journal of Human Genetics, 21(9), 943-947.

Zahari, N., Mat Bah, M. N., A Razak, H., & Thong, M. K. (2019). Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country. European journal of pediatrics, 178(8), 1267-1274.

Zigman, W. B. (2013). Atypical aging in Down syndrome. Developmental disabilities research reviews, 18(1), 51-67.

Published

03/05/2022

How to Cite

CORRÊA, B. F. B. .; VIDAL, L. E. do C. .; PEREIRA, P. A. T. .; TORRIERI, E. Bibliographic survey of the main congenital heart disease associated with Down Syndrome in Brazil. Research, Society and Development, [S. l.], v. 11, n. 6, p. e45611629167, 2022. DOI: 10.33448/rsd-v11i6.29167. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/29167. Acesso em: 18 may. 2022.

Issue

Section

Review Article