THE MAIN CONGENITAL HEART DISEASES IN PATIENTS WITH DOWN SYNDROME: AN UPDATE

• DOI: 10.22533/at.ed.1593852311103

• Palavras-chave: Congenital Heart Diseases. Down's syndrome. Genetics. Epigenetics.

• Keywords: Congenital Heart Diseases. Down's syndrome. Genetics. Epigenetics.

• Abstract:

  Down syndrome (DS) results from trisomy 21 (T21) and is the most common chromosomal syndrome. Its prevalence varies between populations, but is increased in pregnant women over 42 years of age, certain ethnicities and in consanguineous parents. In the population with DS, congenital heart disease (CHD) is associated with approximately 50% of patients, being the main responsible for early death in these patients. Therefore, the objective is to understand the most common congenital heart defects in Down Syndrome. This is an integrative review of the literature, based on the VHL, PubMed/MEDLINE and Scielo databases, carried out in November 2022. The descriptors “Heart Defects, congenital” AND “Down syndrome” were applied, with the descriptor NOT review. Articles were selected from 2017 to 2022, with full text available, filtered by human limits and that responded to the proposed objective. After applying the method, 14 articles remained, which were read and analyzed. Two studies identified DS as the syndrome most commonly associated with the diagnosis of congenital heart disease. The type of CHD chosen as the most common was the common atrioventricular canal (CAVC), highlighting the atrioventricular septal defect (AVSD) and ventricular septal defect (VSD). The survival of DS patients with congenital heart disease depends on several factors. The hypotheses explain that defects in the endocardial cushion in a certain number of DS patients are mainly due to altered methylation profiles of genes involved in cardiac morphogenesis and a complex architecture of alleles and complex genetic and epigenetic interactions. Therefore, the correlation between DS and congenital heart disease is heterogeneous in its incidence and types of CHD, a relevant factor in public policy programming. More recent genetic and epigenetic studies point the way to unraveling the existing gaps, but new studies are needed.