scholarly journals Two Common MTHFR Gene Polymorphisms (C677T and A1298C) and Fetal Congenital Heart Disease Risk: An Updated Meta-Analysis with Trial Sequential Analysis

2018 ◽  
Vol 45 (6) ◽  
pp. 2483-2496 ◽  
Author(s):  
Rui Zhang ◽  
Caihong Huo ◽  
Xingning Wang ◽  
Bo Dang ◽  
Yaning Mu ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Secondary Structure ◽  
Rna Secondary Structure ◽  
Congenital Heart ◽  
Sequential Analysis ◽  
Recessive Model ◽  
Trial Sequential Analysis ◽  
Chd Risk ◽  
Increased Risk

Background/Aims: Published studies indicated that the MTHFR gene polymorphisms C677T and A1298C are associated with congenital heart disease (CHD) risk in children, but obtained inconsistent results. Our study aims to reach a more accurate association between these two polymorphisms and CHD risk. Methods: Eligible studies were obtained by screening the PubMed, Embase, China National Knowledge Infrastructure, Wan Fang and VIP databases based on designed searching strategy. The odds ratio (OR) and 95% confidence interval (CI) were calculated. Moreover, a trial sequential analysis was introduced to confirm the positive results and an RNA secondary structure analysis was also applied to discover the potential molecular mechanism. Results: Based on thirty-two published articles, involving 6988 congenital heart disease subjects and 7579 healthy controls, the pooled results from the C677T polymorphism in the fetal population showed increased risks in allelic model (OR=1.32, 95%CI=1.14-1.53), recessive model (OR=1.69, 95%CI=1.25-2.30), dominant model (OR=1.35, 95%CI=1.11-1.64), heterozygote model (OR=1.20, 95%CI=1.01-1.41) and homozygote model (OR=1.75, 95%CI=1.31-2.33). An increased risk was only detected in the A1298C polymorphism in the overall fetal popalation in a recessive model (OR=1.42, 95%CI=1.10-1.84). In the subgroup stratified by region, sample size, genotyping method and source of controls, the increased risks were widely observed in both the C677T and A1298C polymorphisms with CHD risk. Furthermore, trial sequential analysis confirmed our positive results, and the RNA secondary structure analysis detected the changes in the RNA secondary structure caused by the mutant 677T allele and 1298C allele. Conclusion: In summary, we found that the MTHFR C677T polymorphism is associated with a significant increased risk in congenital heart disease in the fetal population. Moreover, an increased risk in the CC genotype of MTHFR A1298C polymorphism was observed, but the protective role of the 1298C allele needs further study.

scholarly journals Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes

2021 ◽  
Author(s):  
Simon G Williams ◽  
Dominic Byrne ◽  
Bernard Keavney
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Rare Variants ◽  
Uk Biobank ◽  
Sequencing Data ◽  
Chd Risk ◽  
Increased Risk ◽  
Sequencing Studies ◽  
The Uk

Several genes have been associated with congenital heart disease (CHD) risk in previous GWAS and sequencing studies, but studies involving larger numbers of case samples remain needed to facilitate further understanding of what remains a complex and largely uncharacterised genetic etiology. Here we use whole exome sequencing data from 200,000 samples in the UK Biobank to assess ultra-rare and potentially pathogenic variation associated with increased risk of CHD. Our findings indicate that rare variants in GATA6, presumably with a lesser effect on gene function than those causing severe CHD phenotypes, or buffered by other genetic and environmental effects during development, are also associated with minor CHD conditions, specifically bicuspid aortic valve, the most common CHD condition.

scholarly journals Neighbourhood maternal socioeconomic status indicators and risk of congenital heart disease

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qun Miao ◽  
Sandra Dunn ◽  
Shi Wu Wen ◽  
Jane Lougheed ◽  
Jessica Reszel ◽  
...  
Keyword(s):  
Socioeconomic Status ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Household Income ◽  
Congenital Heart ◽  
Population Based ◽  
Income Poverty ◽  
Lower Odds ◽  
Logistic Regression Models ◽  
Chd Risk

Abstract Background This study aimed to examine the relationships between various maternal socioeconomic status (SES) indicators and the risk of congenital heart disease (CHD). Methods This was a population-based retrospective cohort study, including all singleton stillbirths and live births in Ontario hospitals from April 1, 2012 to March 31, 2018. Multivariable logistic regression models were performed to examine the relationships between maternal neighbourhood household income, poverty, education level, employment and unemployment status, immigration and minority status, and population density and the risk of CHD. All SES variables were estimated at a dissemination area level and categorized into quintiles. Adjustments were made for maternal age at birth, assisted reproductive technology, obesity, pre-existing maternal health conditions, substance use during pregnancy, rural or urban residence, and infant’s sex. Results Of 804,292 singletons, 9731 (1.21%) infants with CHD were identified. Compared to infants whose mothers lived in the highest income neighbourhoods, infants whose mothers lived in the lowest income neighbourhoods had higher likelihood of developing CHD (adjusted OR: 1.29, 95% CI: 1.20–1.38). Compared to infants whose mothers lived in the neighbourhoods with the highest percentage of people with a university or higher degree, infants whose mothers lived in the neighbourhoods with the lowest percentage of people with university or higher degree had higher chance of CHD (adjusted OR: 1.34, 95% CI: 1.24–1.44). Compared to infants whose mothers lived in the neighbourhoods with the highest employment rate, the odds of infants whose mothers resided in areas with the lowest employment having CHD was 18% higher (adjusted OR: 1.18, 95% CI: 1.10–1.26). Compared to infants whose mothers lived in the neighbourhoods with the lowest proportion of immigrants or minorities, infants whose mothers resided in areas with the highest proportions of immigrants or minorities had 18% lower odds (adjusted OR: 0.82, 95% CI: 0.77–0.88) and 16% lower odds (adjusted OR: 0.84, 95% CI: 0.78–0.91) of CHD, respectively. Conclusion Lower maternal neighbourhood household income, poverty, lower educational level and unemployment status had positive associations with CHD, highlighting a significant social inequity in Ontario. The findings of lower CHD risk in immigrant and minority neighbourhoods require further investigation.

scholarly journals LVNC – A review

2021 ◽  
Vol 2 (4) ◽  
Author(s):  
Lisa Brandon ◽  
◽  
Brian Kerr ◽  
Ken McDonald ◽  
◽  
...  
Keyword(s):  
Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gold Standard ◽  
Congenital Heart ◽  
Imaging Techniques ◽  
Disease Modifying Therapies ◽  
Increased Risk ◽  
Disease Modifying ◽  
No Gold Standard

LVNC is a relatively new clinical entity, with a significant increase in awareness and diagnosis in recent years. Currently the aetiology and pathogenesis of LVNC remains uncertain, alongside prevalence, however the diagnosis of LVNC appears to be increasing with improving imaging techniques. For educational purposes involving a rare clinical condition, we present the case of a 52 year old gentleman who was diagnosed with LV non compaction via ECHO and CMR. Interestingly it was noted two of his children had congenital heart disease, one daughter had Tetralogy of Fallot, and a second daughter had both an ASD and VSD. Challenges facing LVNC involve difficulty of diagnosis with no gold standard yet available, uncertainty of benefit with standard disease modifying therapies for HF-REF, and apparent increased risk of arrhythmias suggesting early ICD placement may be warranted for patients. Keywords: Hr-Ref; heart failure; lv non compaction; arrhythmias; lcd Risk.

scholarly journals Nutritional assessment and associated factors in children with congenital heart disease in Ethiopia.

2021 ◽  
Author(s):  
Temesgen Tsega Desta
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Heart Disease ◽  
Associated Factors ◽  
Congenital Heart ◽  
Nutritional Assessment ◽  
Failure To Thrive ◽  
Cross Sectional ◽  
Care Givers ◽  
Increased Risk

ABSTRACT Infants and children with congenital heart disease exhibit a range of delays in weight gain and growth. In some instances, the delay can be relatively mild, whereas in other cases, cause the failure to thrive. OBJECTIVES To determine the nutritional status and associated factors of pediatric patients with congenital heart disease. MATERIAL AND METHODS A cross sectional analytical study was done over a period of 6months (Feb to Jul 2020). A total of 228 subjects with congenital heart disease that come to the cardiac center during the study period where included until the calculated sample size was attained. Data was collected from patient card and care givers of the children included in the study after obtaining their informed consent using data inquiry sheet. RESULTS A total of 228 children from age 3month to 17yrs. Most of the subjects had acyanotic heart disease accounting for 87.7%. The overall prevalence of wasting, underweight and stunting were 41.3%, 49.1% and 43% respectively. Among this children with congenital heart disease those with PAH were found more likely have wasting compared to those without PAH with an odds of 1.9 (95% CI: 1.0-3.4) and also greater chance of being stunted with an odds of 1.9 (95% CI: 1.0-3.4). children above 5years of age were 2.3 times more likely to be underweight. CONCLUSION Malnutrition is a major problem of patients with CHD. Pulmonary hypertension and older age are associated with increased risk of undernutrition. KEYWORDS: Acyanotic, cyanotic, Pulmonary hypertension, underweight, wasting and stunting.

Abstract 19314: Impact of Body Mass Index on Clinical Outcomes in Complex Adult Congenital Heart Disease

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Norihisa Toh ◽  
Ines Uribe Morales ◽  
Zakariya Albinmousa ◽  
Tariq Saifullah ◽  
Rachael Hatton ◽  
...  
Keyword(s):  
Heart Failure ◽  
Body Mass Index ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Adult Congenital Heart Disease ◽  
Cardiac Events ◽  
Increased Risk ◽  
Adult Congenital

Background: Obesity can adversely affect most organ systems and increases the risk of comorbidities likely to be of consequence for patients with complex adult congenital heart disease (ACHD). Conversely, several studies have demonstrated that low body mass index (BMI) is a risk factor for heart failure and adverse outcomes after cardiac surgery. However, there are currently no data regarding the impact of BMI in ACHD. Methods: We examined the charts of 87 randomly selected, complex ACHD patients whose first visit to our institution was at 18-22 years old. Patients were categorized according to BMI at initial visit: underweight (BMI < 18.5 kg/m 2 ), normal (BMI 18.5 - 24.9 kg/m 2 ), overweight/obese (BMI ≥ 25 kg/m 2 ). Events occurring during follow-up were recorded. Data was censured on 1/1/2014. Cardiac events were defined as a composite of cardiac death, heart transplantation or admission for heart failure. Results: The cohort included patients with the following diagnoses: tetralogy of Fallot n=31, Mustard n=28, Fontan n=17, ccTGA n=9 and aortic coarctation n=2. The median (IQR) duration of follow-up was 8.7 (4.2 - 1.8) years. See table for distribution and outcomes by BMI category. Cardiac events occurred in 17/87 patients. After adjustment for age, sex, and underlying disease, the underweight group had increased risk of cardiac events (HR=12.9, 95% CI: 2.8-61.5, p < 0.05). Kaplan-Meier curves demonstrate the poorer prognosis of underweight patients (Figure). Conclusions: Underweight was associated with increased risk of late cardiac events in ACHD patients. We were unable to demonstrate significant overweight/obesity impact.

P1802Management and outcomes of infective endocarditis in adults with congenital heart disease

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
R Ly ◽  
D Lebeaux ◽  
F Pontnau ◽  
F Compain ◽  
B Gaye ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Infective Endocarditis ◽  
Congenital Heart ◽  
Hospital Death ◽  
Oral Streptococci ◽  
Mortality And Morbidity ◽  
Risk Of Death ◽  
Duke Criteria ◽  
Increased Risk

Abstract Background Causes, epidemiology and microbiology of infective endocarditis (IE) have evolved in recent decades. Although novel tools for the diagnosis and therapeutic strategies have emerged, mortality and morbidity remain high. These trends may particularly concern the growing population of adults with congenital heart disease (CHD) who are at increased risk for IE. Purpose We aimed to characterize IE in CHD patients and describe management and outcome in this setting. We also sought to determine the risk factors associated with in-hospital death in CHD patients. Methods From January 2000 to June 2018, 666 consecutive episodes of IE in adults were recorded in our center. Among them, 143 concerned CHD, including 5 implantable cardiac electronic devices-lead infections, all managed by an IE team including CHD specialists. Cases were classified according to modified Duke criteria. Results CHD patients were significantly younger (37 years IQR [26–52]), with a more common history of cardiac reoperations (numbers of sternotomies≥2 in 35.7%) and infective endocarditis (19.7%, p<0.01) compared to non-CHD patients. There were more infections of valve-containing prosthetics (44% vs. 30%, p<0.04), and the right heart side (41.5%, p<0.01) in CHD patients. Forty-nine percent of them had a simple CHD, 12.7% a moderate, and 36.4% a complex. A predisposing event could be identified in only 34% of cases. Oral streptococci/Streptococci bovis and Staphylococcus aureus were the most frequently microorganisms isolated (32.4% and 20.4%, respectively). Surgery was performed in 90 episodes (62%), and was selected in emergency (<24h) in 61% (figure 1). In-hospital mortality was 12.7% and was directly related to IE in 10/18 cases. CHD patients had a significant lower risk of death compared to non-CHD patients (OR=0.47, p=0.026, p<0.01), even after adjustment for age, and the infected heart side. On multivariate analysis the complexity of CHD (if simple CHD: OR=0.07 IQR [0.01 to 0.44], p<0.01) and the white blood cell count (OR=1.18 IQR [1.04 to 1.33], p=0.01) were the strongest predictive factors of in-hospital death in the CHD group. Conclusions Mortality associated with IE in CHD patients is lower than in acquired heart disease. The multidisciplinary approach by IE team and CHD specialists may have improved management and outcome in this setting. However, risk for death remains high in complex lesions. Larger prospective studies on IE in adults with CHD are needed to develop guidelines in these complex patients.

Association Between Postoperative Dexmedetomidine Use and Arrhythmias in Infants After Cardiac Surgery

2019 ◽  
Vol 10 (4) ◽  
pp. 440-445 ◽  
Author(s):  
Laura A. Ortmann ◽  
Meera Keshary ◽  
Karl Stessy Bisselou ◽  
Shelby Kutty ◽  
Jeremy T. Affolter
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Odds Ratio ◽  
Retrospective Cohort ◽  
Congenital Heart ◽  
Atrioventricular Canal ◽  
Need For Treatment ◽  
Increased Risk ◽  
High Risk Infants ◽  
Complete Atrioventricular

Background: Dexmedetomidine has been suggested as an arrhythmia prophylactic agent after surgery for congenital heart disease due to its heart rate lowering effect, though studies are conflicting. We sought to study the effect of dexmedetomidine in infants that are at highest risk for arrhythmias. Methods: Retrospective cohort study of infants less than six months of age undergoing cardiopulmonary bypass for congenital heart disease. The arrhythmia incidence in the first 48 hours after surgery in infants receiving dexmedetomidine for sedation was compared to those that did not receive dexmedetomidine. Results: A total of 309 patients were included, 206 patients who did not receive dexmedetomidine and 103 patients who did. The incidence of tachyarrhythmias was similar between the non-DEX group and the DEX group (19% vs 15%, P = .34). When adjusted for baseline differences, the non-DEX group did not have an increased risk of postoperative tachyarrhythmias (odds ratio [OR]: 1.4, 95% confidence interval [CI]: 0.5-3.8). The non-DEX group had an increased need for treatment for arrhythmias (18% vs 8%, P = .012). The three lesions with baseline higher risk for arrhythmias (tetralogy of Fallot, transposition of the great arteries, and complete atrioventricular canal) had an increased incidence of tachyarrhythmias in the non-DEX group (34% vs 6%, P = .027). This risk was not significant in multivariate analysis (OR: 2.5, 95% CI: 0.4-15.5). Conclusions: High-risk infants had decreased incidence of tachyarrhythmias when receiving dexmedetomidine, though this was not significant after accounting for baseline differences between groups.

scholarly journals Impact of congenital heart disease on outcomes among pediatric patients hospitalized for influenza infection

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Laxmi V. Ghimire ◽  
Fu-Sheng Chou ◽  
Anita J. Moon-Grady
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Respiratory Failure ◽  
Hospital Mortality ◽  
Congenital Heart ◽  
Pediatric Patients ◽  
Influenza Infection ◽  
Ventilatory Support ◽  
Personal Hygiene ◽  
Increased Risk

Abstract Background Young children and those with chronic medical conditions are at risk for complications of influenza including cardiopulmonary compromise. Here we aim to examine risks of mortality, clinical complications in children with congenital heart disease (CHD) hospitalized for influenza. Methods We analyzed data from in-hospital pediatric patients from 2003, 2006, 2009, 2012 and 2016 using the nationally representative Kids Inpatient Database (KID). We included children 1 year and older and used weighted data to compare the incidence of in-hospital mortality and rates of complications such as respiratory failure, acute kidney injury, need for mechanical ventilation, arrhythmias and myocarditis. Results Data from the KID estimated 125,470 children who were admitted with a diagnosis of influenza infection. Out of those, 2174(1.73%) patients had discharge diagnosis of CHD. Children with CHD who required hospitalization for influenza had higher in-hospital mortality (2.0% vs 0.5%), with an adjusted OR (aOR) of 2.8 (95% CI: 1.7–4.5). Additionally, acute respiratory failure and acute kidney failure were more likely among patients with CHD, with aOR of 1.8 (95% CI: 1.5–2.2) and aOR of 2.2 (95% CI: 1.5–3.1), respectively. Similarly, the rate of mechanical ventilatory support was higher in patients with CHD compared to those without, 14.1% vs 5.6%, aOR of 1.9 (95% CI: 1.6–2.3). Median length of hospital stay in children with CHD was longer than those without CHD [4 (IQR: 2–8) days vs. 2 (IQR: 2–4) days]. Outcomes were similar between those with severe vs non-severe CHD. Conclusions Children with CHD who require hospital admission for influenza are at significantly increased risk for in-hospital mortality, morbidities, emphasizing the need to reinforce preventative measures (e.g. vaccination, personal hygiene) in this particularly vulnerable population.

scholarly journals THE ROLE OF DEVELOPMENTAL TOXICANTS AND SOCIO-ECONOMIC STATUS ON CONGENITAL HEART DISEASE IN URBAN AND RURAL ALBERTA

2018 ◽  
Vol 23 (suppl_1) ◽  
pp. e37-e38
Author(s):  
Deliwe Ngwezi ◽  
Lisa Hornberger ◽  
Jesus Serrano-Lomelin ◽  
Charlene Nielsen ◽  
Deborah Fruitman ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Economic Status ◽  
Environmental Pollutants ◽  
Rural Regions ◽  
Environmental Injustice ◽  
Socio Economic Status ◽  
Increased Risk ◽  
Group 1

Abstract BACKGROUND Evidence is emerging suggesting associations between environmental pollutants, socio-economic status (SES) and congenital heart disease (CHD); however, it is still inconclusive. Furthermore, it has been documented in environmental injustice studies that people with low socio-economic status are disproportionately vulnerable to environmental hazards and therefore are victims of a double jeopardy. OBJECTIVES We sought to explore the effect of exposure to groups of developmental toxicants (DTs) and SES on CHD development in urban and rural Alberta. DESIGN/METHODS We identified 2,413 CHD cases and postal codes (PC) from echocardiographic databases (2003–2010). We used previously defined groups of DTs comprised of: 1- organics and gases, 2-organics and 3-heavy metals. Exposure was assigned to each PC as the sum of the product of multiplying amounts of DTs (tonnes) emitted from any industrial facility within 10 km radius during the whole study period, by the inverse distance from the facility to the centroid of the PC. Exposures were categorized into deciles from 1(lowest) to 10 (highest) for group 1 DTs and tertiles (1=lowest to 3 =highest), for groups 2 and 3 DTs and the SES index. Poisson regression models were used to calculate risk ratios and 95% CI, adjusted for SES index or DTs and traffic-related surrogates (NO2, PM2.5). RESULTS Adjusted Effect of DT Exposure: Group 1 DT showed increased risk in urban and rural regions in the 10th decile of exposure, aRR=1.85(1.5, 2.3) and 2.67(1.04, 6.8, respectively). Group 2 DT risk was increased only in urban 3rd tertile, RR=1.45(1.3, 1.6). Group 3 DTs were associated with an increased risk in urban and rural regions in the 3rd tertile of exposure [aRR=1.16(1.04, 1.3), and 2.8(1.14, 7.1, respectively)]. Adjusted Effect of SES: SES was independently associated with an increased risk of CHD in urban lowest tertile, [aRR=1.13(1.0, 1.3)] and rural lowest and middle SES tertile, [aRR=2.9(1.9, 4.8) and 1.6(1.1, 2.6), respectively]. CONCLUSION High exposures to groups of DTs and SES were independently associated with an increased risk of CHD in urban and rural Alberta. This suggests that neighborhood SES in Alberta does not impose a disproportional exposure to DTs. Furthermore, SES had a greater impact in rural compared to urban regions. We would like to explore for interactions between the SES and DT exposures and to determine if there is environmental injustice in Alberta.

Sign in / Sign up

Export Citation Format

Share Document