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PedAM

Pediatric Disease Annotations & Medicines




Disease down syndrome
Phenotype C0018818|ventricular septal defect
Sentences 9
PubMedID- 25099029 Repair of complete atrioventricular septal defect in infants with down syndrome: outcomes and long-term results.
PubMedID- 20642908 No significant differences were seen in left atrioventricular valve insufficiency between atrioventricular septal defect in patients with and without down syndrome (1.5 +/- 0.9 vs.
PubMedID- 26504441 down syndrome with complete atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis.
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- PMC4045140 Dna of down syndrome individual with atrioventricular septal defect and down syndrome individuals without avsd were sequenced for the snp analysis of col6a1 gene.
PubMedID- 22987595 Nearly, 400 participants were included in the genetic association study and they were stratified as down syndrome (ds) with atrioventricular septal defect (avsd), ds without avsd, euploid with avsd, and euploid without avsd.
PubMedID- 25683160 The parenting stress index revealed that the down syndrome with atrioventricular septal defect group had a significantly higher child demandingness subdomain scores compared with the down syndrome without chd group.
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).
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.

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