Pathology of Trisomy 21 — with Particular Reference to Persistent Common Atrioventricular Canal of the Heart

1981 ◽  
pp. 57-73 ◽  
Author(s):  
Helga Rehder
Keyword(s):  
Trisomy 21 ◽  
Atrioventricular Canal

Increased adhesiveness of trisomy 21 cells and atrioventricular canal malformations in down syndrome: A stochastic model

1985 ◽  
Vol 20 (2) ◽  
pp. 385-399 ◽  
Author(s):  
David M. Kurnit ◽  
John F. Aldridge ◽  
Rumiko Matsuoka ◽  
Steven Matthysse ◽  
John M. Opitz ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Stochastic Model ◽  
Trisomy 21 ◽  
Atrioventricular Canal

scholarly journals Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xingyu Zhang ◽  
Bo Wang ◽  
Guoling You ◽  
Ying Xiang ◽  
Qihua Fu ◽  
...  
Keyword(s):  
Copy Number ◽  
Trisomy 21 ◽  
Single Ventricle ◽  
Snp Array ◽  
Copy Number Variations ◽  
Chinese Children ◽  
Atrioventricular Canal ◽  
Genome Wide ◽  
Number Variation ◽  
Complete Atrioventricular

Abstract Background Congenital heart disease (CHD) is one of the most common birth defects. Copy number variations (CNVs) have been proved to be important genetic factors that contribute to CHD. Here we screened genome-wide CNVs in Chinese children with complete atrioventricular canal (CAVC) and single ventricle (SV), since there were scarce researches dedicated to these two types of CHD. Methods We screened CNVs in 262 sporadic CAVC cases and 259 sporadic SV cases respectively, using a customized SNP array. The detected CNVs were annotated and filtered using available databases. Results Among 262 CAVC patients, we identified 6 potentially-causative CNVs in 43 individuals (16.41%, 43/262), including 2 syndrome-related CNVs (7q11.23 and 8q24.3 deletion). Surprisingly, 90.70% CAVC patients with detected CNVs (39/43) were found to carry duplications of 21q11.2–21q22.3, which were recognized as trisomy 21 (Down syndrome, DS). In CAVC with DS patients, the female to male ratio was 1.6:1.0 (24:15), and the rate of pulmonary hypertension (PH) was 41.03% (16/39). Additionally, 6 potentially-causative CNVs were identified in the SV patients (2.32%, 6/259), and none of them was trisomy 21. Most CNVs identified in our cohort were classified as rare (< 1%), occurring just once among CAVC or SV individuals except the 21q11.2–21q22.3 duplication (14.89%) in CAVC cohort. Conclusions Our study identified 12 potentially-causative CNVs in 262 CAVC and 259 SV patients, representing the largest cohort of these two CHD types in Chinese population. The results provided strong correlation between CAVC and DS, which also showed sex difference and high incidence of PH. The presence of potentially-causative CNVs suggests the etiology of complex CHD is incredibly diverse, and CHD candidate genes remain to be discovered.

Post-operative course of pulmonary artery pressure after complete atrioventricular canal defect repair

2021 ◽  
pp. 1-7
Author(s):  
Marie Emeline Pierre Louis ◽  
Adnan Bhutta ◽  
Adrian Holloway ◽  
Peter Gaskin
Keyword(s):  
Pulmonary Artery ◽  
Right Ventricular ◽  
Pulmonary Vascular Resistance ◽  
Pulmonary Artery Pressure ◽  
Trisomy 21 ◽  
Pulmonary Artery Hypertension ◽  
Atrioventricular Canal ◽  
Atrioventricular Canal Defect ◽  
The Right ◽  
Complete Atrioventricular

Abstract Complete atrioventricular canal defect is a CHD associated with intra-cardiac shunting of blood, which can lead to irreversible changes in pulmonary vascular resistance and pulmonary artery hypertension if unrepaired. Patients with Trisomy 21 are at risk for early development of pulmonary artery hypertension if left uncorrected.1,2 Objectives: The purpose of this study is to describe the evolution of pulmonary artery hypertension after repair of complete atrioventricular canal defect and to determine the time to normalisation of pulmonary artery pressure in both patients with and without Trisomy 21. Methods: This is a single centre, retrospective analysis of patients with complete atrioventricular canal defect admitted for surgical repair at the University of Maryland Medical Center from 2005 to 2015. T-test or Mann–Whitney test and Chi-Square or Fisher’s exact tests were used to compare the two groups (patients with Trisomy 21 and those without). Repeated measures of analysis of variance and serial measurement analysis were performed. Results: Twenty-nine patients meeting the inclusion criteria underwent repair of complete atrioventricular defects during the study period. The right ventricular pressure estimate remained elevated over time and did not show a significant difference between the two groups. Right ventricular to systolic blood pressure ratios for all patients remained > 0.5 over the time periods assessed. Conclusions: Our study suggests that in patients with complete atrioventricular canal defects, the right ventricular pressure remains elevated and does not normalise on echocardiograms performed up to one year after surgery, suggesting a sustained elevation in pulmonary vascular resistance.

scholarly journals Rare Copy Number Variation Analysis in Chinese Children of Complete Atrioventricular Canal and Single Ventricle 

2021 ◽  
Author(s):  
Xingyu Zhang ◽  
Bo Wang ◽  
Guoling You ◽  
Ying Xiang ◽  
Qihua Fu ◽  
...  
Keyword(s):  
Copy Number ◽  
Trisomy 21 ◽  
Single Ventricle ◽  
Snp Array ◽  
Copy Number Variations ◽  
Chinese Children ◽  
Atrioventricular Canal ◽  
Rare Cnvs ◽  
Pathogenic Cnvs ◽  
Complete Atrioventricular

Abstract Background: Congenital heart disease (CHD) is the most common birth defects. Copy number variations (CNVs) have been proved to be important genetic factors that contribute to CHD. Here, we screened pathogenic CNVs in Chinese children with two rare types of CHD, complete atrioventricular canal (CAVC) and single ventricle (SV) .Methods：We screened CNVs in 262 sporadic CAVC cases and 259 sporadic SV cases respectively, using a customized SNP array. The detected CNVs were annotated and filtered using available databases.Results: Among 262 CAVC patients, we identified 44 rare CNVs in 43 individuals (16.4 %, 43/262), including 2 syndrome-related CNVs (7q11.23 and 8q24.3 deletion). Surprisingly, 88.6% rare CNVs (39/44) were duplications of 21q11.2-21q22.3, which were categorized as trisomy 21 (Down syndrome, DS). In CAVC with DS patients, the female to male ratio was 1.6:1 (24:15), and the rate of pulmonary hypertension (PH) was 41% (16/39). Additionally, 6 rare CNVs were identified in the SV patients (2.3%, 6/259), and none of them was trisomy 21.Conclusions: Our study identified 50 rare CNVs in 262 CAVC and 259 SV patients, representing the largest cohort of these two rare CHD types in Chinese population. The results provided strong correlation between CAVC and DS, which also showed sex difference and higher incidence of PH. The presence of rare CNVs suggests the etiology of complex CHD is incredibly diverse, and CHD candidate genes remain to be discovered.

scholarly journals The Effect of Surgical Technique, Age and Trisomy 21 on Early Outcome of Surgical Management of Complete Atrioventricular Canal Defect

2021 ◽  
Author(s):  
Sherief Azzab ◽  
Ahmed Samy ◽  
Hamdy Singab ◽  
Mohamed Zeinah ◽  
Gledisa Musollari ◽  
...  
Keyword(s):  
Early Intervention ◽  
Surgical Technique ◽  
Trisomy 21 ◽  
Surgical Repair ◽  
Early Period ◽  
Optimal Timing ◽  
P Value ◽  
Atrioventricular Canal ◽  
Atrioventricular Canal Defect ◽  
Significant Difference

Abstract Background: The optimal timing, surgical technique and the influence of Trisomy 21 on outcome of surgical repair of Complete Atrio-Ventricular Canal Defect (CAVC) remain uncertain. We reviewed our experience in repair of CAVC to identify the influence of these factors on operative outcome. Methods: A prospective study included 70 patients who underwent repair of CAVC at our institute between July 2016 to October 2019. Primary endpoint was mortality and secondary endpoint was degree of left atrio‐ventricular valve (LAVV) regurgitation.Results: No significant difference noted between patients operated on, at the first 6 months of age versus later, regarding mortality or LAVV regurgitation. Surgical repair by modified single patch technique showed significant reduction in bypass time (71.13 ± 13.507 min vs 99.19 ± 27.092 min, P value =0.001). Comparison to closure of cleft only, posterior annuloplasty used for repair of LAVV resulted in significant reduction in the occurrence of post-operative valve regurgitation during the early period (LAVV 2+ 43 % vs 7 %, P value=0.03) and at 6 months of follow up (LAVV 2+ 35.4 % vs 0 %, P value=0.01) respectively.Conclusion: Early intervention, in the first 6 months in patients with CAVC by surgical repair gives comparable acceptable results to later repair; Trisomy 21 was not found to be a risk factor for early intervention. Repair of common AV valve by cleft closure with posterior LAVV annuloplasty showed better results with significant decrease in postoperative LAVV regurgitation and early mortality in comparison to closure of cleft only.

Dexmedetomidine utilisation and outcomes of children with trisomy 21 undergoing congenital heart disease surgery

2014 ◽  
Vol 25 (5) ◽  
pp. 958-962 ◽  
Author(s):  
Brady S. Moffett ◽  
Emad B. Mossad ◽  
Joseph D. Tobias ◽  
Antonio G. Cabrera
Keyword(s):  
Length Of Stay ◽  
Trisomy 21 ◽  
Health Information System ◽  
Mechanical Valve ◽  
Patient Characteristics ◽  
Hospital Length ◽  
Hospital Length Of Stay ◽  
Atrioventricular Canal ◽  
Icu Length Of Stay ◽  
Ventilator Time

AbstractIntroduction: The diagnosis of trisomy 21 in children has been associated with failed extubation after CHD surgery. Dexmedetomidine may be a useful agent to improve postoperative outcomes in these patients, such as ventilator time, ICU length of stay, or hospital length of stay. Materials and methods: The Pediatric Health Information System database was queried from January, 2008 to December, 2010 for patients with trisomy 21 who underwent CHD surgery. Patients who received dexmedetomidine were matched to patients who did not by propensity score. The primary outcome was ventilator days charged, and secondary outcomes included ICU and hospital length of stay. Results: A total of 1088 patients (544 matched pairs) met inclusion criteria. Patient characteristics were similar, with the exception of more patients in the dexmedetomidine group undergoing repair of complete atrioventricular canal and fewer undergoing mechanical valve replacement (p<0.01). More patients in the dexmedetomidine group were administered milrinone, epinephrine, vasopressin, benzodiazepines, opiates, and adjunct pain and sedative medications (p<0.01). The dexmedetomidine group had greater time on the ventilator [7 (4.5–11) versus 6 (4–10) days (median, interquartile range) p<0.01] and similar ICU length of stay, hospital length of stay, and mortality compared with controls. Mixed-effects modelling clustered on institution did not show beneficial effect of dexmedetomidine on ventilator time, ICU stay, or hospital length of stay. Conclusions: The use of dexmedetomidine was not associated with the decreased ventilatory time. Routine use of dexmedetomidine is not warranted in this patient population.

scholarly journals The effect of surgical technique, age, and Trisomy 21 on early outcome of surgical management of complete atrioventricular canal defect

2021 ◽  
pp. 1-5
Author(s):  
Sherief Azzab ◽  
Ahmed Samy ◽  
Hamdy Singab ◽  
Mohamed Zeinah ◽  
Gledisa Musollari ◽  
...  
Keyword(s):  
Early Intervention ◽  
Surgical Technique ◽  
Trisomy 21 ◽  
Surgical Repair ◽  
P Value ◽  
Valve Regurgitation ◽  
Atrioventricular Canal ◽  
Atrioventricular Canal Defect ◽  
Significant Difference ◽  
Complete Atrioventricular

Abstract Background: The optimal timing, surgical technique, and the influence of Trisomy 21 on the outcome of surgical repair of Complete Atrioventricular Canal Defect remains uncertain. We reviewed our experience in the repair of CAVC to identify the influence of these factors on operative outcomes. Methods: A prospective study included 70 patients, who underwent repair of CAVC at our institute between July, 2016 and October, 2019. Primary endpoint was mortality and the secondary endpoint was a degree of left atrioventricular valve regurgitation. Results: No significant difference was noted between patients operated on, at the first 6 months of age versus later, regarding mortality or LAVV regurgitation. Surgical repair by modified single-patch technique showed a significant reduction in bypass time (71.13 ± 13.507 min versus 99.19 ± 27.092 min, p-value = 0.001). Compared to closure of cleft only, posterior annuloplasty used for repair of LAVV resulted in significant reduction in the occurrence of post-operative valve regurgitation during the early period (LAVV 2 + 43 versus 7 %, p-value = 0.03) and at 6 months of follow-up (LAVV 2 + 35.4 versus 0 %, p-value = 0.01), respectively. Conclusions: Early intervention, in the first 6 months in patients with CAVC by surgical repair gives comparable acceptable results to later repair; Trisomy 21 was not found to be a risk factor for early intervention. Repair of common AV valve by cleft closure with posterior LAVV annuloplasty showed better results with a significant decrease in post-operative LAVV regurgitation and early mortality in comparison to the closure of cleft only.

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