Evaluation of Cardiac Functions among Children with Down Syndrome: When to screen? | ||
| Pediatric Sciences Journal | ||
| Articles in Press, Accepted Manuscript, Available Online from 18 November 2025 PDF (940.76 K) | ||
| Document Type: Original Research | ||
| DOI: 10.21608/cupsj.2025.420993.1174 | ||
| Authors | ||
| Samia Ali Bekheet* ; Iman Ehsan Abdelmeguid; AlShimaa Gad; Reem Ibrahim Ismail | ||
| Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt | ||
| Abstract | ||
| Background: The chromosomal trisomy 21 known as Down syndrome (DS), is frequently associated with congenital structural heart disease, and functional abnormalities. Aim of the work: to evaluate systolic and diastolic cardiac function in children with DS and structurally normal hearts. Subjects and Methods: This cross-sectional case- control study included 80 children with Down syndrome confirmed by karyotyping, with structurally normal hearts, and were regularly monitored at Cairo University Specialized Children's Hospital's Pediatric Genetics Clinic and 80 healthy age and sex matched children as a control group. They all underwent tissue Doppler imaging (TDI), two-dimensional, and M-mode echocardiography. Results: The mean age of the studied DS patients was 2.5±1.54, 47(58.8%) were males, and 74(92.5%) had non-disjunction genetic types. Compared to controls, DS patients exhibited significantly lower systolic and diastolic blood pressures and higher heart and respiratory rates (p˂0.001). Conventional indices (EF% and FS%) were paradoxically elevated in DS (p˂0.001), whereas longitudinal function markers were markedly reduced: tricuspid annular plane systolic excursion (TAPSE) (16.0±2.59 vs 18.52±3.30, p˂0.001), mitral annular plane systolic excursion (MAPSE) (12.4±2.15 vs 15.04±2.94, p˂0.001), and TDI-derived LV and RV S′ velocities (p˂0.05). Decreased LV E′/A′ ratios and myocardial performance index (MPI) confirmed global dysfunction(p˂0.001). In absence of associated comorbidities, heart rate (cut off above 94 beats/minute) and systolic blood pressure (SBP) percentiles (cutoff ≤ 55th percentile) each predicted reliably LV systolic dysfunction, showing sensitivities of 84% and 81%, and specificity of 71% each. No significant effect of age, sex, BMI z-score, or genetic subtype on ventricular function was observed (p=0.78, p=0.34, p=0.33, and p= 0.99 respectively). Conclusion: Children with DS exhibit subclinical impairment of both left and right ventricular function despite structurally normal hearts. HR above 94/minute and lower SBP percentile less than 55th percentile for age predict LV systolic dysfunction and may serve as a simple practical bedside screening tool. | ||
| Keywords | ||
| Cardiac dysfunction; children; Down syndrome; echocardiography; structurally normal heart; tissue Doppler imaging | ||
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