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Deficits in Cardiomyocyte Proliferation: Contributors to Congenital Heart DefectsChang, Sheng-Wei 05 September 2014 (has links)
No description available.
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Non-Syndromic atrioventricular septal defects: a refined definition, associated risk factors, and prognostic factors for left atrioventricular valve replacement following primary repairPatel, Sonali Subhashchandra 01 December 2010 (has links)
Congenital heart defects (CHDs) constitute a major proportion of clinically significant birth defects and are an important component of pediatric cardiovascular disease. Atrioventricular septal defects (AVSDs) include a range of anomalies characterized by atrial, ventricular, and atrioventricular (AV) valve defects. AVSDs commonly occur in the presence of a syndrome, most frequently Down syndrome; they also occur in isolation and are referred to as non-syndromic AVSDs (NSAVSDs). These studies were performed to evaluate for presence of an intermediate phenotype in parents and siblings of a child with a NSAVSD, risk factors associated with NSAVSDs, and prognostic risk factors for left AV valve replacement following primary repair of an AVSD.
It was shown that the mean body surface area-standardized AV septal length (AVSL) was significantly shorter in the NSAVSD parents and siblings than in parents and siblings of syndromic AVSD case and control children. Using age- and gender-adjusted body surface area-standardized AVSL, it was determined that there was evidence for two component distributions in parents and siblings of NSAVSD children, suggesting the presence of an intermediate. Broadening the definition of AVSD to include those with a shortened AVSL may increase the power of genetic association and mapping studies to identify susceptibility genes.
Risk factors associated with NSAVSD were examined using the 1997-2005 National Birth Defects Prevention Study database. Mothers who actively smoked or were exposed to passive smoke anytime from one month prior to pregnancy through the end of the first trimester were more likely to have an infant with a NSAVSD. There was a suggestive association between AVSDs and use of antibacterial, antifungal, and antiviral medications. Additional investigations are warranted to investigate associations with specific medications as well as to uncover possible gene-environment interaction effects that may modify these risks in order to develop improved primary prevention strategies.
Using the Pediatric Cardiac Care Consortium database, factors associated with time to first reoperation and time to replacement following primary AVSD repair were evaluated. Type of AVSD repair, closure of the mitral valve cleft, moderate to severe postoperative left AV valve regurgitation, and presence of postoperative complete heart block were associated with earlier time to reoperation after adjusting for age and weight at AVSD repair. Down syndrome and presence of postoperative mitral stenosis were associated with earlier time to replacement. Prognostic risk factors following left AV valve replacement in children who had previously undergone AVSD repair were also identified. A prosthetic valve size to body weight ratio of greater than 3 and the presence of Down syndrome were identified as predictors of in-hospital death following left AV valve replacement.
By adding to our knowledge of the AVSD familial and environmental risk factors from these studies, we will be able to (1) improve genetic counseling, (2) identify other family members for genetic testing, (3) begin to devise primary prevention strategies, and (4) improve treatment modalities. By recognizing prognostic factors which influence survival, optimal patient care can be devised which will not only improve treatment modalities, but also long-term survival.
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Children with Down syndrome - : an epidemiological study with special focus on congenital heart defectsFrid, Christina January 2002 (has links)
<p>To assess the impact of congenital malformations in Down syndrome (DS) on morbidity, mortality and outcome at birth, information on all children with DS born in the northern part of Sweden in 1973-80 (n=211) and 1995-98 (n=88) was collected. Most common were congenital heart defects (CHD), dominated by atrioventricular septal defects (AVSD). Up to age 10 years, morbidity and mortality were more than 10 times higher in DS children with CHD than in healthy DS children. The DS children seemed more vulnerable at birth than Swedish children in general: they had increased frequencies of Cesarean sections, premature birth, asphyxia, and low birthweight, and higher proportions of children small for gestational age, regardless of the presence of CHD. Infant mortality decreased from 14.2% to 2.3% between the two periods.</p><p>All children with AVSD with and without DS born in Sweden 1973-1997 (n=801) were followed up retrospectively to 2001. Children with isolated AVSD without complex additional CHDs were studied more closely (n=502). A reduction in age at operation and postoperative mortality (from 28 to 1%) was observed. No significant difference in 5-year postoperative mortality between genders or between DS and non-DS children was found. The 5-year postoperative mortality in DS decreased from 35% in 1973-77 to about 10% in 1993-97. </p><p>CHD had a major influence on morbidity, infectionrate and mortality in DS, but not on DS birth variables. The formerly high mortality in CHD is now reduced. In isolated AVSD measures seem equally successful in DS and non-DS children. Mortality is still 3 times higher in DS children with isolated AVSD than in healthy DS children. </p>
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Children with Down syndrome - : an epidemiological study with special focus on congenital heart defectsFrid, Christina January 2002 (has links)
To assess the impact of congenital malformations in Down syndrome (DS) on morbidity, mortality and outcome at birth, information on all children with DS born in the northern part of Sweden in 1973-80 (n=211) and 1995-98 (n=88) was collected. Most common were congenital heart defects (CHD), dominated by atrioventricular septal defects (AVSD). Up to age 10 years, morbidity and mortality were more than 10 times higher in DS children with CHD than in healthy DS children. The DS children seemed more vulnerable at birth than Swedish children in general: they had increased frequencies of Cesarean sections, premature birth, asphyxia, and low birthweight, and higher proportions of children small for gestational age, regardless of the presence of CHD. Infant mortality decreased from 14.2% to 2.3% between the two periods. All children with AVSD with and without DS born in Sweden 1973-1997 (n=801) were followed up retrospectively to 2001. Children with isolated AVSD without complex additional CHDs were studied more closely (n=502). A reduction in age at operation and postoperative mortality (from 28 to 1%) was observed. No significant difference in 5-year postoperative mortality between genders or between DS and non-DS children was found. The 5-year postoperative mortality in DS decreased from 35% in 1973-77 to about 10% in 1993-97. CHD had a major influence on morbidity, infectionrate and mortality in DS, but not on DS birth variables. The formerly high mortality in CHD is now reduced. In isolated AVSD measures seem equally successful in DS and non-DS children. Mortality is still 3 times higher in DS children with isolated AVSD than in healthy DS children.
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Ascertainment and outcomes of atrioventricular septal defects in Pietersburg Hospital, Limpopo Province, South AfricaShibambu, Giyani Patrick January 2019 (has links)
Thesis (M. Med.(Paediatrics and Child Health)) -- University of Limpopo, 2019 / Background: Congenital heart disease (CHD) is a significant contributor to Under 5 Mortality rate(U5MR) in Limpopo. Atrioventricular septal defect (AVSD) is the best ascertained lesion in Limpopo and is strongly associated with Down syndrome. Few children from Limpopo with CHD including AVSD access cardiac diagnostic and surgical services.
Objectives: The study aimed to enumerate, describe syndromes associated with AVSD and outcomes of children with AVSD at Pietersburg hospital.
Methods: This is a Retrospective study of all children (n=80) diagnosed with AVSD from 1 January 2010 to 31 December 2014 at Pietersburg hospital. Data were drawn from echocardiogram reports and patient records. District Health Information Software (DHIS) data was used to obtain the number of live births per district during the 5 years study period.
Results: Eight hundred and sixty six (n=866) patients had a first diagnosis of CHD confirmed on echocardiography and 80 (9.2%) of these had AVSD (an estimated 31.5% of expected cases of AVSD). Eighty four per cent (84%) of AVSD patients were associated with Down syndrome. 42/67 (63%) AVSD patients were referred for surgical assessment and of those 15/42 (36%) had surgery. The median interval between diagnosis and surgery was 13 months. Seventy five percent (n=50/67) of patients defaulted follow up.
Conclusion: The study confirmed that most children with AVSD had associated Down syndrome and that the majority of children with AVSD from Limpopo do no access surgery. There is under referral of children with Down syndrome for screening of CHD.
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