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PP-010 Congenital heart defects in down syndrome
  1. Elma Smajlović,
  2. Orhana Grahić Mujčinović,
  3. Sibila Tabaković
  1. Cantonal Hospital Zenica


Aim Down syndrome (DS) is the most common chromosomal disorder, accounting for 1/1000 livebirths. It is primarly caused by trisomy of chromosome 21, which leads to both structural and functional defects in patients with wide range of phenotypic variation. Molecular analysis reveals that the 21q22.1-q22.3 region, also known as the Down syndrome critical region (DSCR), appears to contain the gene or genes responsible for the congenital heart disease (CHD), which are known contributor to morbidity and mortality in Down syndrome. Our aim was to define the frequency and patterns of congenital heart disease among children with Down syndrome.

Material and Method We conducted retrospective analysis of children with DS, referred to the cardiological evaluation in Pediatrics department of Cantonal hospital Zenica from 2013.-2023.

Results Our study found 23 children with confirmed diagnosis of Down syndrome, from which 12 (52%) had congenital heart disease. 91% of them were male. Spectrum of congenital anomalies included atrioventricular septal defect (AVSD, n=4), left to right shunts (VSD, n=2; ASD, n=3; VSD+ASD, n=2), and aortic valve regurgitation (n=1). Eight patients had signs of transitional circulation, spontaneously resolving on follow up. Two patients had no cardiologic evaluation in our department, and one patient died before cardiac evaluation. Four patients underwent successful cardiac surgery, one died in aftermath, and one case is still pending.

Conclusions CHD has remained a co-occurring condition in DS for decades, with constant prevalence around 40–50%. According to various geographical regions, cardiological patterns of CHD vary, which may be due to different environmental contributions. In findings relevant to developed countries, life expectancy of people with Down’s syndrome is approaching that of the general population, due largely to advances in cardiac surgery and in general health management.

  • Congenital heart disease
  • Down syndrome

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