Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5

2019 ◽  
Vol 133 (12) ◽  
pp. 1281-1295 ◽  
Author(s):  
Xiaobo Gao ◽  
Panpan Zheng ◽  
Liping Yang ◽  
Haiyan Luo ◽  
Chen Zhang ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Genetic Variation ◽  
Heart Disease ◽  
Congenital Heart ◽  
Mrna Level ◽  
Luciferase Assay ◽  
Genetic Mutations ◽  
Control Group ◽  
Coding Region ◽  
Case Control Studies

Abstract GDF1 plays an important role in left–right patterning and genetic mutations in the coding region of GDF1 are associated with congenital heart disease (CHD). However, the genetic variation in the promoter of GDF1 with sporadic CHD and its expression regulation is little known. The association of the genetic variation in GDF1 promoter with CHD was examined in two case–control studies, including 1084 cases and 1198 controls in the first study and 582 cases and 615 controls in the second study. We identified one single nucleotide polymorphism (SNP) rs181317402 and two novel genetic mutations located in the promoter region of GDF1. Analysis of combined samples revealed a significant association in genotype and allele frequencies of rs181317402 T/G polymorphism between CHD cases in overall or ventricular septal defects or Tetralogy of Fallot and the control group. rs181317402 allele G polymorphism was significantly associated with a decreased risk of CHD. Furthermore, luciferase assay, chromatin immunoprecipitation and DNA pulldown assay indicated that Nkx2.5 transactivated the expression of GDF1 by binding to the promoter of GDF1. Luciferase activity assay showed that rs181317402 allele G significantly increased the basal and Nkx2.5-mediated activity of GDF1 promoter, while the two genetic mutations had the opposite effect. rs181317402 TG genotype was associated with significantly increased mRNA level of GDF1 compared with TT genotype in 18 CHD individuals. Our results demonstrate for the first time that Nkx2.5 acts upstream of GDF1 and the genetic variants in GDF1 promoter may confer genetic susceptibility to sporadic CHD potentially by altering its expression.

Using Telemedicine to Improve the Quality of Life of Parents of Infants With CHD Surgery After Discharge

2021 ◽  
Author(s):  
Qi-Liang Zhang ◽  
Yu-Qing Lei ◽  
Jian-Feng Liu ◽  
Hua Cao ◽  
Qiang Chen
Keyword(s):  
Quality Of Life ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Intervention Group ◽  
Control Group ◽  
Educational Levels ◽  
Education Levels

Abstract Background The purpose of this study was to investigate the effect of using telemedicine to improve the quality of life of parents of infants with congenital heart disease surgery after discharge. Methods A prospective randomized controlled study was conducted in a provincial hospital in China from November 2020 to April 2021 to compare the quality of life of parents of infants with congenital heart disease surgery after discharge between the WeChat follow-up group and the outpatient follow-up group. A total of 84 patients (42 in each group) and 168 parents (84 in each group) participated in this study. Results One month after discharge, the SAS and SDS scores of parents in the intervention group were significantly lower than those in the control group (P<0.05). Compared with the SAS and SDS scores at discharge, the scores of parents in the intervention group were significantly lower at one month after discharge (P<0.05), while the scores of parents in the control group were similar at one month after discharge (P>0.05). At discharge, in both the intervention group and the control group, the SAS and SDS scores of the mothers were higher than those of the fathers (P<0.05). One month after discharge, in the control group, the SAS and SDS scores of the mothers were higher than those of the fathers (P<0.05). One month after discharge, in the intervention group, the SAS and SDS scores of the mothers were similar to those of the fathers (P>0.05). The comparison of the SAS and SDS scores of parents with different education levels showed that in both the intervention group and control group, the lower the parents’ educational levels were, the higher their SAS and SDS scores were (P<0.05). One month after discharge, in the control group, the lower the parents’ education levels were, the higher their SAS and SDS scores (P<0.05). One month after discharge, in the intervention group, the SAS and SDS scores were similar among parents with different educational levels. The results of the WHOQOL-BREF scale showed that the scores of the physiological, psychological, social and environmental fields at one month after discharge in the intervention group were significantly higher than those in the control group (P<0.05). Conclusion Providing health education and medical support to the parents of infants with congenital heart disease surgery after discharge via telemedicine can effectively relieve the parents’ anxiety and depression and improve their quality of life.

Association study of a functional variant of TNF-α gene and serum TNF-α level with the susceptibility of congenital heart disease in a Chinese population

2019 ◽  
Vol 95 (1128) ◽  
pp. 547-551
Author(s):  
Jun Pan ◽  
Jiang Hu ◽  
Xusheng Qi ◽  
Liqin Xu
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Luciferase Reporter Assay ◽  
Luciferase Reporter ◽  
Control Group ◽  
Reporter Assay ◽  
Tnf Α ◽  
Α Level ◽  
Dual Luciferase Reporter Assay

BackgroundCongenital heart disease (CHD) is among the leading causes of infant death worldwide. Although shortage of folate has been found potentially to contribute to CHD in the embryo, the aetiology of CHD was not completely understood. Inflammation and altered immune processes are involved in all forms of cardiac malformation, including CHD. Tumour necrosis factor-α (TNF-α), was involved in the pathogenesis of multiple kinds of heart diseases. However, no studies have systematically evaluated the associations of genetic variants of TNF-α with susceptibility of CHD.MethodsA case-control study was conducted to evaluate the associations between tagSNPs of TNF-α and CHD susceptibility. Serum level of TNF-α was assessed using ELISA. The dual luciferase reporter assay was used to evaluate the functional significance of variant rs1800629 on TNF-α transcriptional activity.ResultsWe found rs1800629 was significantly correlated with increased CHD susceptibility (OR: 1.72, 95% CI 1.26 to 2.36, p=0.001). Serum levels of TNF-α were significantly higher in CHD group (9.09±1.90 pg/mL) than that in control group (6.12±1.56 pg/mL, p<0.001). The AA genotype and AG genotype of rs1800629 was associated with higher serum TNF-α level, compared with GG genotype. The dual luciferase reporter assay showed that promoter activity was significantly increased by 57% and 76% for plasmids containing the minor A allele compared with the major G allele in H9c2 and HEK 293T, respectively.ConclusionThese results indicate that higher level of serum TNF-α increases risk of CHD, while TNF-α rs1800629 A allele might contribute to higher risk for CHD due to the increase in TNF-α expression.

scholarly journals The MALAT1 gene polymorphism and its relationship with the onset of congenital heart disease in Chinese

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Qian Li ◽  
Wenying Zhu ◽  
Bei Zhang ◽  
Yiping Wu ◽  
Sen Yan ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Chinese Population ◽  
Congenital Heart ◽  
Additive Model ◽  
Luciferase Assay ◽  
Nucleotide Polymorphisms ◽  
Tag Snps ◽  
Gender And Age ◽  
Functional Investigation

Many long non-coding RNAs (lncRNAs), including lncRNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT1), are involved in various cardiac diseases. We evaluated the effects of tag single nucleotide polymorphisms (tag-SNPs) on MALAT1 gene in a Chinese population of children with congenital heart disease (CHD). In the present study, 713 CHD patients and 730 gender- and age-matched children without CHD were genotyped for MALAT1 tag-SNPs rs11227209, rs619586, and rs3200401. Further investigation of SNP’s function was performed by luciferase assay. Statistical analyses, including uni- and multivariate logistic regression were performed to quantitate the association between these tag SNPs and CHD. We discovered that MALAT1 rs619586 GG allele was significantly associated with lower risk of CHD (odds ratio (OR) = 0.77, 95% confidence interval (CI) = 0.59–0.92, P=0.014) in additive model. Functional investigation indicated that G allele of rs619586 could trigger higher expression of MALAT1. We demonstrated that the functional MALAT1 polymorphism rs619586 A>G was significantly associated with CHD susceptibility in Chinese population, potentially via regulating MALAT1 expression.

349 Assessing the Impact of Genetic Variation in Islet-1 on Congenital Heart Disease Subtypes

2012 ◽  
Vol 28 (5) ◽  
pp. S228
Author(s):  
R. Cheung ◽  
A. Fung ◽  
T. Daljevic ◽  
M. Safi ◽  
C. Ogaki ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Genetic Variation ◽  
Heart Disease ◽  
Congenital Heart ◽  
Disease Subtypes ◽  
Islet 1 ◽  
The Impact

Dermatoglyphics in Patients of Congenital Heart Disease

1968 ◽  
Vol 17 (3) ◽  
pp. 523-539 ◽  
Author(s):  
I. Emerit ◽  
P. Vernant ◽  
P. Corone
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Aortic Stenosis ◽  
Congenital Heart ◽  
Isolated Heart ◽  
Low Frequency ◽  
Control Group ◽  
Finger Print ◽  
Malformation Syndromes ◽  
Finger Print Patterns

SUMMARYPalm-print and finger-print patterns were studied in a series of 330 patients with congenital heart disease and compared to a control group of 200 patients with acquired heart disease.156 patiens had associated malformations, while 174 other patients had isolated heart disease. Both groups were studied separately.Simian creases are more frequent in the malformed patients than in the controls, but the difference is only significant in patients with multiple malformations.A triradius in the positions t' is seen with a higher frequency in patients with multiple malformations and in patients with isolated heart disease than in the controls. The position t” however is only more frequent in the group of patients with multiple malformations, and tends to be associated more often with a ventricular septal defect and Fallot's tetralogy than with an atrial septum defect, aortic stenosis, coarctation and patent ductus.Hypothenar patterns are more frequent in patients than in controls.The results concerning finger-print patterns show a diminished frequency of arches in patients with isolated heart disease compared with controls and patients with multiple malformations. Variations between the different types of congenital heart disease were not important. They are partly in agreement, partly in disagreement with the results of other authors.21 patients with familial congenital heart disease show an increased frequency of ulnar loops and a low frequency of whorls compared to the rest of patients.This study does not include classical chromosomal aberrations and no malformation syndromes besides the Holt-Oram syndrome and the supravalvular aortic stenosis syndrome. The first one is characterised by an increased frequency of axial triradius in the t” position and of simian creases, while the second one seems to be without any dermatoglyphic particularity.

scholarly journals Evaluation of the school success in children with the diagnosis of congenital heart disease who underwent an intervention

2014 ◽  
Author(s):  
Gülben İrem Kanberoğlu ◽  
Önder Doksöz ◽  
Özlem Bağ ◽  
Serpil Ece Aras Öztürk
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Academic Success ◽  
Patient Group ◽  
Social Life ◽  
Congenital Heart ◽  
School Success ◽  
Control Group ◽  
Significant Difference ◽  
Behavioral Attitudes

OBJECTIVE: Congenital heart disease is one of the most common childhood diseases that affect both the children's and their families social life, quality of life and the children's academic achievement. The aim of this study is to evaluate the school performance of children suffering from congenital heart disease who underwent surgical or catheter based interventions. METHODS: The study group included 50 patients with congenital heart disease underwent surgical or catheter based interventions attending to secondary school (aged 12-15 years old) and 50 healthy controls. The academic success validation from official school grades of lessons Turkish, Mathematics, Science, Social Sciences lessons and behavioral attitudes were obtained from the Ministry of Education ‘’e-school’’ parent information system printouts. The patient group consisted of both cyanotic and acyanotic patients and each groups were compared with controls. RESULTS: Turkish, mathematics, physical education classes and behavioral attitudes note in the patient group was significantly lower than in the control group. The school success in Cyanotic group was significantly lower than the control group in Turkish, mathematics, education lessons and behavioral attitudes grades. Significant difference was not determined in science and social science lessons. CONCLUSION: Cyanotic group's success in mathematic and turkish lessons are lower in children with congenital heart disease especially in cyanotic group. We suggest that providing supportive teaching pragrammes for children with congenital hearth disease are needed in order to maintain academic success.

scholarly journals Primary and secondary aortopathy associated with adult congenital heart disease - retrospective study

2020 ◽  
Author(s):  
Ingrid Schusterova ◽  
Alzbeta Banovcinova ◽  
Marianna Vachalcova ◽  
Marta Jakubova ◽  
Panagiotis Artemiou
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Aortic Root ◽  
Congenital Heart ◽  
Adult Congenital Heart Disease ◽  
Ascending Aorta ◽  
Control Group ◽  
Adult Congenital ◽  
Aorta Dilatation

Abstract Background: Primary and secondary aortopathy are frequently encountered in patients with congenital heart disease. The aim of this study is to present our experience and the incidence of primary and secondary adult CHD-associated aortopathy.Methods. The cohort is comprised of adult patients with congenital heart disease from the registry of the Eastern Slovakia Institute of Cardiovascular Diseases. Data from the last follow-up examinations are included in this study. In the primary and secondary aortopathy group were 35 and 12 patients respectively. As a control group were selected 64 patients with non aortopathy associated congenital heart disease (atrial and ventricular septal defect).Results: Patients with primary and secondary aortopathy had larger ascending aorta/aortic root diameters than the control group (36.28 (26-49) mm vs 30.25 (21-41) mm p=0.000113, 33.82 27-49) mm vs 29.03 (19-38)mm p=0.000366 and 42.1 (30-50) mm vs 30.25 (21-41) mm, p=0.000106, 35.67 (27-48) mm vs 29.03 (19-38) mm, p=0.000119 respectively). Moreover, patients with secondary aortopathy had statistically significant larger ascending aorta diameter compared to the patients with primary aortopathy ( 42.1 (30-50) mm vs 36.28 ( 26-49) mm p=0.030). During the follow-up period, were performed only in 2 patients (one from each group) operations on the aortic root and the ascending aorta due to aortic root or ascending aorta dilatation.Conclusion: More patients with secondary aortopathy had dilated ascending aorta/ aortic root, as well as larger aortic diameters compare to the patients with primary aortopathy. Routine follow-up of these patients with attention to aortic diameter is necessary.

scholarly journals Prevalence of Factors Associated with Congenital Heart Disease

2020 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Parvin Akbari Asbagh ◽  
Ali Rabbani ◽  
Nahid Vafaei ◽  
Saeede Mohammadalizadeh Rastegar ◽  
Ehsan Aghaei Moghadam ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Drug Use ◽  
Maternal Age ◽  
Congenital Heart ◽  
Genetic Factors ◽  
Control Group ◽  
P Value ◽  
Factors Associated ◽  
History Of

Background: Congenital heart disease (CHD) is the most common congenital disorder in neonates. Many factors are associated with the occurrence of the CHD, including genetic factors, teratogenic exposure and several other unrecognized factors. Objectives: This study aims to investigate the role of several potential factors associated with the occurrence of CHD. Methods: This study was conducted as a cross-sectional case-control study, in Imam Khomeini Hospital Complex, Tehran, Iran. A total of 1338 known cases of CHD, diagnosed by echocardiography or angiography and 1201 healthy children as the controls were included in this study. Factors that could have an association with CHD were investigated by a questionnaire from all participants. Results: Maternal age above 30 years (P-value < 0.001), positive parents’ consanguinity (P-value < 0.001) and previous maternal history of abortion (P-value < 0.001) was significantly higher among patients with CHD; furthermore, positive history of CHD among siblings of the known cases of CHD was higher than healthy ones (P-value < 0.001). The mean birth weight in case and control group were 3 (+ 0.648) and 2.9 (+ 0.707) kilograms, respectively. The maternal age in 983 (73.4%) cases and 960 (79.93%) controls was below the 30 years, the maternal age for other participants was above the 30 years (P-value < 0.001). Conclusions: All factors except the history of stillbirth, maternal underlying disease and drug use during pregnancy in the case group were significantly different with the control group. It seems that the causes of CHD in Iran are most commonly related to the hereditary genetic factors, and the increased maternal age, drug use, and underlying diseases in the mother are a matter of less importance.

scholarly journals The brain protective effect of dexmedetomidine during surgery for paediatric patients with congenital heart disease

2019 ◽  
Vol 47 (4) ◽  
pp. 1677-1684 ◽  
Author(s):  
Jin Gong ◽  
Rufang Zhang ◽  
Li Shen ◽  
Yewei Xie ◽  
Xiaobing Li
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Protective Effect ◽  
Congenital Heart ◽  
Venous Pressure ◽  
Controlled Study ◽  
Control Group ◽  
Time Points ◽  
Paediatric Patients ◽  
The Brain

Objective To study the brain protective effect of dexmedetomidine (DEX) during surgery in paediatric patients with congenital heart disease (CHD). Methods This randomized single-blind controlled study enrolled paediatric patients aged 0–3 years with CHD who underwent surgery and randomized them into two groups: one group received DEX and the control group received 0.9% NaCl during anaesthesia. Demographic data, heart rate (HR), mean arterial pressure (MAP) and central venous pressure (CVP) were recorded. Levels of neuron specific enolase (NES) and S-100β protein were determined using enzyme-linked immunosorbent assays. Results The study enrolled 80 paediatric patients with CHD. Compared with the control group, HR, MAP and CVP were significantly lower in the DEX group at all time-points except for T0. At all time-points except for T0, the levels of jugular venous oxygen saturation in the DEX group were significantly higher compared with the control group. At all time-points except for T0, the levels of arterial venous difference and cerebral extraction of oxygen were significantly lower in the DEX group compared with the control group. Levels of NES and S-100β protein in the DEX group were significantly lower compared with the control group at all time-points except for T0. Conclusion DEX treatment during surgery for CHD improved oxygen metabolism in brain tissues and reduced the levels of NES and S-100β protein.

scholarly journals Associations of GATA4 genetic mutations with the risk of congenital heart disease

Medicine ◽  
2017 ◽  
Vol 96 (18) ◽  
pp. e6857 ◽  
Author(s):  
Yanwei Zhang ◽  
Feng Ai ◽  
Jiayong Zheng ◽  
Bangtian Peng
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Genetic Mutations
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