eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | down syndrome |
| Comorbidity | C0018816|septal defects |
| Sentences | 3 |
| PubMedID- 25341113 | Methods: genome-wide copy-number variant analysis was performed on 452 individuals with down syndrome (210 cases with complete atrioventricular septal defects; 242 controls with structurally normal hearts) using affymetrix snp 6.0 arrays, making this the largest heart study conducted to date on a trisomic background. |
| PubMedID- 21481831 | Closure of perimembranous ventricular septal defects in patients with down syndrome, either surgically or by amplatzer occluders, carries a high risk of complete heart block. |
| PubMedID- 21256509 | Results: there were significant associations between fever and influenza and specific chds, namely right-sided obstructive defects (fever: or, 2.04; 95% ci, 1.27 to 3.27; influenza: or, 1.75; 95% ci, 1.16 to 2.62) and atrioventricular septal defects in infants with down syndrome (fever: or, 1.92; 95% ci, 1.10 to 3.38; influenza: or, 1.66; 95% ci, 1.04 to 2.63). |
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