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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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Prevalência de hipertensão pulmonar e evolução dos pacientes submetidos à correção de defeito do septo atrioventricular no Serviço de Cardiologia Pediátrica do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto - USP / Prevalence of pulmonary hypertension and clinical outcomes of patients undergoing surgical correction of atrioventricular septal defect at the Pediatric Cardiology Service of Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto -USPJacob, Maria Fernanda Ferrari Balthazar 04 April 2018 (has links)
Doenças cardíacas congênitas são as mais frequentes entre as malformações congênitas graves, afetando de duas a três crianças por 100 nascidos vivos, sendo o defeito do septo atrioventricular (DSAV) responsável por 5% desses, e atingindo cerca de 50% dos pacientes portadores de Síndrome de Down. Caracteriza-se essencialmente por vários graus de desenvolvimento incompleto do tecido septal ao redor das valvas atrioventriculares, bem como de anormalidades na formação das mesmas. Recomenda-se a correção cirúrgica ao redor de 4 meses de vida, no intuito de prevenir o surgimento de hipertensão pulmonar (HP) irreversível devida ao hiperfluxo pulmonar, no entanto a despeito disso, identifica-se a presença de hipertensão pulmonar em pacientes já submetido ä correção do defeito cardíaco. O presente estudo teve por objetivo analisar a prevalência de hipertensão pulmonar diagnosticada através do ecocardiografia e identificar dos fatores de risco em pacientes submetidos à correção cirúrgica de DSAV nos últimos 16 anos no Hospital das Clínicas da Faculdade de Medicina de Ribeirão preto da Universidade de São Paulo (HCFMRP - USP). Foram selecionados pacientes portadores de DSAV, submetidos à correção cirúrgica no HCFMRP - USP, no período de janeiro de 1999 a janeiro de 2016, em seguimento no Ambulatório de Cardiologia Infantil do HCFMRP-USP, considerados portadores de hipertensão pulmonar os pacientes que apresentaram à ecocardiografia valores estimados de pressão sistólica de artéria pulmonar (PSAP) superiores a 30 mmHg. Foram analisadas variáveis clínicas pré e pós-operatórias. Não foi encontrada correlação entre peso e idade na data da correção cirúrgica e presença de HP na avaliação ecocardiográfica pós-operatória; no entanto esta se relacionou com tempo prolongado de circulação extra-corpórea e ventilação mecânica. Houve aumento significativo na sobrevida nos últimos oito anos analisados, refletindo a melhoria na qualidade de atendimento clinico e cirúrgico dos pacientes. A alta perda de seguimento ambulatorial causa preocupação, porém reflete as dificuldades próprias de serviços de saúde de países em desenvolvimento. / Congenital heart diseases are the most common serious congenital malformations, affecting two of three children per 100 newborns, the atrioventricular septal defect (AVSD) is responsible for 5% of these cases, reaching almost 50% of bearers of Down\'s Syndrome. It has been characterized essentially by many incomplete development degrees of de septal tissue around the atrioventricular valves, as well as its formation abnormalities. The actual recommendation is to proceed surgical correction nearly 4 months of age, in order to prevent irreversible pulmonary hypertension (PH) due to the pulmonary overflow. Despite of the surgical correction, patients may present pulmonary hypertension. This research aimed to analyze the prevalence of pulmonary hypertension diagnosed by transthoracic echocardiogram and identify risk factors for this outcome in patients undergoing surgical correction of AVSD in the last 16 years at the Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (HCFMRP - USP). All patients diagnosed with AVSD, submitted to surgical correction and followed at the HCFMRP - USP in the last 16 years and were selected. Those who had systolic pulmonary arterial pressure above 30 mmHg in the echocardiogram evaluation were considered to have pulmonary hypertension. Clinical variables before and after surgery were analyzed. Anthropometric and age data at the surgery had no influence in the presence of PH in the follow up. Although prolonged cardiopulmonary bypass and pulmonary mechanical ventilation had significantly affected that outcome. The survival had increased significantly in the last eight years of our study, reflecting the improvement of assistance. A high loss of follow up was detected and made us very concerned, however shows the difficulties and low investment in the public health system in developing countries.
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Prevalência de hipertensão pulmonar e evolução dos pacientes submetidos à correção de defeito do septo atrioventricular no Serviço de Cardiologia Pediátrica do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto - USP / Prevalence of pulmonary hypertension and clinical outcomes of patients undergoing surgical correction of atrioventricular septal defect at the Pediatric Cardiology Service of Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto -USPMaria Fernanda Ferrari Balthazar Jacob 04 April 2018 (has links)
Doenças cardíacas congênitas são as mais frequentes entre as malformações congênitas graves, afetando de duas a três crianças por 100 nascidos vivos, sendo o defeito do septo atrioventricular (DSAV) responsável por 5% desses, e atingindo cerca de 50% dos pacientes portadores de Síndrome de Down. Caracteriza-se essencialmente por vários graus de desenvolvimento incompleto do tecido septal ao redor das valvas atrioventriculares, bem como de anormalidades na formação das mesmas. Recomenda-se a correção cirúrgica ao redor de 4 meses de vida, no intuito de prevenir o surgimento de hipertensão pulmonar (HP) irreversível devida ao hiperfluxo pulmonar, no entanto a despeito disso, identifica-se a presença de hipertensão pulmonar em pacientes já submetido ä correção do defeito cardíaco. O presente estudo teve por objetivo analisar a prevalência de hipertensão pulmonar diagnosticada através do ecocardiografia e identificar dos fatores de risco em pacientes submetidos à correção cirúrgica de DSAV nos últimos 16 anos no Hospital das Clínicas da Faculdade de Medicina de Ribeirão preto da Universidade de São Paulo (HCFMRP - USP). Foram selecionados pacientes portadores de DSAV, submetidos à correção cirúrgica no HCFMRP - USP, no período de janeiro de 1999 a janeiro de 2016, em seguimento no Ambulatório de Cardiologia Infantil do HCFMRP-USP, considerados portadores de hipertensão pulmonar os pacientes que apresentaram à ecocardiografia valores estimados de pressão sistólica de artéria pulmonar (PSAP) superiores a 30 mmHg. Foram analisadas variáveis clínicas pré e pós-operatórias. Não foi encontrada correlação entre peso e idade na data da correção cirúrgica e presença de HP na avaliação ecocardiográfica pós-operatória; no entanto esta se relacionou com tempo prolongado de circulação extra-corpórea e ventilação mecânica. Houve aumento significativo na sobrevida nos últimos oito anos analisados, refletindo a melhoria na qualidade de atendimento clinico e cirúrgico dos pacientes. A alta perda de seguimento ambulatorial causa preocupação, porém reflete as dificuldades próprias de serviços de saúde de países em desenvolvimento. / Congenital heart diseases are the most common serious congenital malformations, affecting two of three children per 100 newborns, the atrioventricular septal defect (AVSD) is responsible for 5% of these cases, reaching almost 50% of bearers of Down\'s Syndrome. It has been characterized essentially by many incomplete development degrees of de septal tissue around the atrioventricular valves, as well as its formation abnormalities. The actual recommendation is to proceed surgical correction nearly 4 months of age, in order to prevent irreversible pulmonary hypertension (PH) due to the pulmonary overflow. Despite of the surgical correction, patients may present pulmonary hypertension. This research aimed to analyze the prevalence of pulmonary hypertension diagnosed by transthoracic echocardiogram and identify risk factors for this outcome in patients undergoing surgical correction of AVSD in the last 16 years at the Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (HCFMRP - USP). All patients diagnosed with AVSD, submitted to surgical correction and followed at the HCFMRP - USP in the last 16 years and were selected. Those who had systolic pulmonary arterial pressure above 30 mmHg in the echocardiogram evaluation were considered to have pulmonary hypertension. Clinical variables before and after surgery were analyzed. Anthropometric and age data at the surgery had no influence in the presence of PH in the follow up. Although prolonged cardiopulmonary bypass and pulmonary mechanical ventilation had significantly affected that outcome. The survival had increased significantly in the last eight years of our study, reflecting the improvement of assistance. A high loss of follow up was detected and made us very concerned, however shows the difficulties and low investment in the public health system in developing countries.
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Fatores associados à insuficiência moderada ou importante da valva atrioventricular esquerda no primeiro mês após correção de defeito de septo atrioventricularKozak, Marcelo Felipe 27 May 2011 (has links)
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Previous issue date: 2011-05-27 / Introduction: One of the most often and important complications after surgical
treatment of atrioventricular septal defects is the left atrioventricular valve
insufficiency. So, this study was conducted to identify risk factors for moderate or
severe left atrioventricular valve regurgitation within 30 days of surgical repair of
atrioventricular septal defects at our center. Methods: This was a retrospective study
in which we evaluated the results of 104 consecutive patients that were operated on
at our practice between 2002 and 2010. The following associated factors were
considered: age, weight, Down syndrome, grade of preoperative atrioventricular valve
regurgitation, abnormalities on the atrioventricular valve and the use of annuloplasty.
Patients were separated in two groups according to type of AVSD: group I (complete)
and group II (incomplete – partial and transitional). Characteristics of the 53 patients of
the group I: the median patient age at the time of repair was 6.7 months; the median
weight was 5.3 Kg; 86.8% had Down syndrome; at the time of preoperative evaluation,
there were 26 cases with moderate or severe atrioventricular valve regurgitation
(49.1%); annuloplasty was perfored in 34%; abnormalities on the valve were found in
11.3% of the cases. Characteristics of the 51 patients of the group II: The median patient
age at the time of repair was 4.1 years; the median weight was 13.4 Kg; 37.2% had
Down syndrome; at the time of preoperative evaluation, there were 23 cases with
moderate or grater LAVVR (45.1%); abnormalities on the AV valve were found in
17.6% of the cases; annuloplasty was performed in 21.6% of the patients. Results:
Group I - At the time of post-operative evaluation, there were 21 cases with moderate or
severe left atrioventricular valve regurgitation (39.6%). After performing a multivariate
analysis, the only significant factor associated with these grades of insufficiency within 30 days of surgical correction of complete atrioventricular septal defect was the absence
of Down syndrome (p = 0.03). Group II - At the time of postoperative evaluation, there
were 12 cases with moderate or greater LAVVR (23.5%). During univariate analysis,
only absence of Down syndrome was statistically significant (p = 0.02). However, after
a multivariate analysis, none of the factors reached significance. Conclusion: Absence
of Down syndrome proved to be associated with moderate or severe post-operative left
atrioventricular valve regurgitation in patients with complete AVSD. However, none
of the factors studied was determinant of a moderate or greater LAVVR within the first
30 days of repair of incomplete AVSD at our center. / Introdução: Uma das complicações mais frequentes e importantes do tratamento
cirúrgico do defeito de septo atrioventricular (DSAV) é a insuficiência residual da valva
atrioventricular esquerda, tanto nas formas totais, como parciais e transicionais. Dessa
forma, esse estudo foi conduzido para identificar fatores de risco associados à
insuficiência da valva atrioventricular esquerda (IVAVE) de grau moderado ou
importante nos primeiros 30 dias após correção de defeito de DSAV. Métodos: Dados
de 104 pacientes com DSAV operados entre 2002 e 2010 foram avaliados
retrospectivamente, sendo estudados os seguintes fatores de risco: idade e peso no
momento da correção, ausência de síndrome de Down, grau de insuficiência da
valva atrioventricular (AV) antes da correção, anormalidades na valva AV e uso de
anuloplastia. Os pacientes foram separados em dois grupos de acordo com o tipo de
DSAV: grupo I (total) e grupo II (parcial e transicional). Características dos 53
pacientes do grupo I: a mediana da idade foi de 6,7 meses e a do peso de 5,3 Kg; 86,8%
tinham síndrome de Down; antes da operação, 26 pacientes apresentavam insuficiência
pelo menos moderada da valva AV (49.1%); anuloplastia foi realizada em 34% dos
pacientes; anormalidades na valva AV foram encontradas em 11.3% dos casos.
Características dos 51 pacientes do grupo II: a mediana da idade foi de 4,1 anos e a do
peso de 13,4 Kg; 37,2% tinham síndrome de Down; antes da operação, 23 pacientes
apresentavam IVAVE pelo menos moderada (45,1%); anormalidades na valva AV
foram encontradas em 17,6% dos casos; anuloplastia foi realizada em 21,6% dos
pacientes. Resultados: Grupo I – Após a correção cirúrgica, 21 casos apresentaram
IVAVE pelo menos moderada (39,6%). Pela análise multivariada, o único fator
associado com IVAVE pelo menos moderada no pós-operatório foi ausência de síndrome de Down (p = 0,03). Grupo II - Após a correção cirúrgica, 12 casos
apresentaram IVAVE pelo menos moderada (23,5%). Pela análise univariada, apenas a
ausência de síndrome de Down teve significância estatística (p = 0.02). Porém, após
análise multivariada, nenhum dos fatores teve significância estatística. Conclusão:
Ausência de síndrome de Down foi determinante de IVAVE moderada ou importante
nos primeiros 30 dias após correção de DSAV total. Todavia, nenhum dos fatores
estudados foi determinante para tais graus de IVAVE entre os pacientes com DSAV
parcial e transicional.
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Molecular Genetic Analysis of CRELD1 in Patients with Heterotaxy DisorderZhian, Samaneh 01 January 2011 (has links)
Heterotaxy refers to the abnormal arrangement of internal organs in relation to each other. Model organism studies have shown that functions of more than eighty genes are required for normal asymmetric left-right organ development. CRELD1 has been shown to be necessary for proper heart development and mutations in CRELD1 are known to increase risk of cardiac atrioventricular septal defects (AVSD). AVSD is the most common form of heart defect associated with heterotaxy, and we have previously shown that some individuals with heterotaxy-related AVSD have mutations in CRELD1. Therefore, we propose to examine the CRELD1 gene in a large sample of patients with heterotaxy syndrome. Our goal was to determine if mutations in CRELD1 are associated with other manifestations of heterotaxy or if they only coincide with AVSD. To achieve this aim, a sample size of 126 patients with heterotaxy collected by Dr. Belmont, Baylor college of Medicine, Texas, with approximately 66% of the heterotaxy population with different types of heart defects, were used for this study. Ten exons, promoter regions, and regulatory elements in the introns of CRELD1 gene were sequenced and analyzed. In this study three different heterozygous missense mutations in CRELD1 were identified in three unrelated individuals. These three individuals were diagnosed with different forms of heart defects in addition to AVSD. All three mutations were identified in highly conserved regions of CRELD1 possibly altering the CRELD1 properties. This demonstrates that mutations in CRELD1 may increase the susceptibility of AVSD in heterotaxy population. This information can help us to find factors effecting disease susceptibility in heterotaxy patients since the heart defects are a complex trait with incomplete penetrance.
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Role Of Nitric Oxide In Embryonic Heart Development And Adult Aortic Valve DiseaseLiu, Yin 22 May 2014 (has links)
Congenital heart disease (CHD) is the most common birth defect in infants. Identifying factors that are critical to embryonic heart development or CHDs in general could further our understanding of the disease and may lead to new strategies of its prevention and treatment. Endothelial nitric oxide synthase (NOS3/eNOS) is known for many important biological functions including vasodilation, vascular homeostasis and angiogenesis. Previous studies have shown that deficiency in NOS3 results in congenital septal defects, cardiac hypertrophy and postnatal heart failure. In addition, NOS3 is pivotal to morphogenesis of aortic valve and myocardial capillary development. The aim of my thesis was to investigate the role of NOS3 in the embryonic and adult heart. I discovered that NOS3 deficiency resulted in coronary artery hypoplasia in fetal mice and spontaneous myocardial infarction in postnatal hearts. Coronary artery diameters, vessel density and volume were significantly decreased in NOS3-/- mice at postnatal day 0. Lack of NOS3 also down-regulated the expression of Gata4, Wilms tumor-1, vascular endothelial growth factor, basic fibroblast growth factor and erythropoietin in the embryonic heart at E12.5, and inhibited migration of epicardial cells into the myocardium. In addition, my data show that the overall size and length of mitral and tricuspid valves were decreased in NOS3-/- compared with WT mice. Echocardiographic assessment showed significant regurgitation of mitral and tricuspid valves during systole in NOS3-/- mice. Immunostaining of Snail1 was performed in the embryonic heart. Snail1 positive and total mesenchymal cells in the AV cushion were decreased in NOS3-/- compared with WT mice at E10.5 and E12.5. Finally, in the adult aortic valves, NOS3 is important in inhibition of thrombosis formation. Deficiency in NOS3 leads to aortic valve thrombosis and calcification. At 12 months old, 72% (13/18) of NOS3-/- mice showed severe spontaneous aortic valve thrombosis compared with WT mice (0/12). Ex vivo culture of aortic valves showed that platelet aggregation and adhesion were significantly increased in NOS3-/- aortic valves compared with WT aortic valves. There was also a significant regurgitation of the aortic valve during systole in the NOS3-/- compared with WT mice. In addition, NOS3 deficiency resulted in significant aortic valve stenosis, calcification and fibrosis. In summary, these data suggest NOS3 plays a critical role in embryonic heart development and morphogenesis of coronary arteries and inhibits thrombosis formation in the adult aortic valves.
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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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Tachikardijų elektrofiziologinė diagnostika ir nemedikamentinis gydymas / Electrophysiological diagnostics and non-pharmacological treatment of tachycardiasMarinskis, Germanas 08 April 2009 (has links)
Šiame darbe apžvelgiama Vilniaus Universiteto Širdies ligų ir kraujagyslių klinikoje 1991−2008 metais sukaupta patirtis taikant nemedikamentinį gydymą pacientams su supraventrikulinėmis tachikardijomis ir skilveliniais ritmo sutrikimais. Apibendrinome nemedikamentinio gydymo rezultatus 1693 pacientams: 753 pacientams su atrioventrikulinio mazgo paroksizmine tachikardija, 657 pacientams su papildomais laidumo takais, 169 pacientams su skilvelinėmis tachikardijomis. Be to, apibendrinome kardioverterių defibriliatorių implantavimo rezultatus 118 pacientų. Nustatėme, kad atrioventrikulinio mazgo tachikardijos kateterinės abliacijos efektyvumas 99,2%, komplikacijų dažnis 0,53%. Įrodėme, kad saugu atlikti „lėtos“ zonos abliaciją pacientams su ilgu PQ intervalu. Papildomų laidumo takų kateterinė abliacija buvo efektyvi 98,1% atvejų, komplikacijų dažnis 1,7%. Papildomų laidumo takų grupėje sudėtingiausios lokalizacijos yra užpakalinė pertvarinė dalis ir vidurinė pertvarinė dalis (pastaroji – dėl rizikos sukelti III laipsnio AV blokadą). Skilvelinių tachikardijų kateterinės abliacijos rezultatas priklauso nuo etiologijos. „Idiopatinių“ skilvelinių tachikardijų atvejais kateterinės abliacijos efektyvumas viršija 90%. Koronarinės širdies ligos ir kardiomiopatijų atvejais kateterinė abliacija mažiau efektyvi (~60%). Kardioverterių defibriliatorių grupėje iki 11 m. stebint pacientus, defibriliatorius suveikė 68,6% atvejų. / This paper reviews the 1991−2008 experience with non-pharmacological treatment of supraventricular and ventricular tachycardias in the Clinic of Heart and vessel diseases of Vilnius University. We summarized the results of managing 1693 patients: 753 patients with atrioventricular nodal tachycardia, 657 patients with accessory pathways, 169 patients with ventricular tachycardias, and 118 patients with implanted cardioverter defibrillators. We have shown that the success rate of catheter ablation for atrioventricular nodal tachycardia is 99.2% with complication rate 0.53%. The safety of ablating the “slow” pathway in patients with prolonged PQ interval has been shown. The success rate of catheter ablation of accessory pathways is 98.1% with 1.7% complication rate. The most complex accessory pathway localization for ablation was posteroseptal area and midseptal area (the latter because of the risk to induce a complete atrioventricular block). The result of catheter ablation for ventricular tachycardia depends on etiology. For “idiopathic” ventricular tachycardias success rate exceeds 90%. In patients with coronary heart disease and cardiomyopathies, catheter ablation is less effective (60%). During the follow-up with duration up to 11 years, 68.6% of patients with implanted cardioverter defibrillators have experienced therapy delivered by the device.
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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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