Molecular mechanisms of congenital heart disease in down syndrome

Zhang, Hui; Liu, Lingjuan; Tian, Jie

doi:10.1016/j.gendis.2019.06.007

Cited by 16 publications

(21 citation statements)

References 61 publications

(75 reference statements)

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“…Congenital heart defects have found in 40-60% of DS cases including 45% atrioventricular septal defects (AVSD) [5]. Rodrigues et al [6] reported that the frequency of CHD in dual DS-KS and DS populations seems to be different.…”

Section: Case Reportmentioning

confidence: 99%

“…Additionally, cardiac and gastrointestinal defects, hypothyroidism, and celiac disease are commonly associated with DS [3]. Congenital heart defects have found in 40-60% of DS cases [5] but rarely reported in children with KS [6]. This study aimed to report a fetus diagnosed with dual DS-KS who presents the characteristics of congenital heart defect.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

"Prenatal Detection of Complete Atrioventricular Septal Defect: A Down - Klinefelter Syndrome Case Report from Vietnam"

Bui¹,

Nguyen²,

et al. 2021

BJSTR

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Section: Case Reportmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

"Prenatal Detection of Complete Atrioventricular Septal Defect: A Down - Klinefelter Syndrome Case Report from Vietnam"

Bui¹,

Nguyen²,

et al. 2021

BJSTR

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“…CHD affects about 1% of live births and has become the leading cause of childhood mortality (2,3). Despite incomplete knowledge on the onset and development of CHD, recent findings indicate that intrauterine infection, environmental factors, chromosomal abnormalities, gene mutations and epigenetics are involved in this disease (4)(5)(6)(7). CHD phenotypes are diverse, involving pulmonary stenosis, aortic stenosis, atrial septal defect, aortic transposition, right ventricular double outlet, ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, and other types of defects (8).…”

Section: Introductionmentioning

confidence: 99%

Analysis of Biomarkers for Congenital Heart Disease Based on Maternal Amniotic Fluid Metabolomics

Sun

Yang

et al. 2021

Front. Cardiovasc. Med.

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Congenital heart disease (CHD) is the most common birth defect. The prenatal diagnosis of fetal CHD is completely dependent on ultrasound testing, but only ~40% of CHD can be detected. The purpose of this study is to find good biomarkers in amniotic fluid (AF) to detect CHD in the second trimester, so as to better manage this group of people and reduce the harm of CHD to the fetus. Metabolites analysis were performed in two separate sets. The discovery set consisted of 18 CHD fetal maternal AF samples and 35 control samples, and the validation set consisted of 53 CHD fetal maternal AF samples and 114 control samples. Untargeted metabolite profiles were analyzed by gas chromatography/time-of-flight-mass spectrometry (GC-TOF/MS). Orthogonal partial least square discrimination analysis (OPLS-DA) demonstrated that CHD and control samples had significantly different metabolic profiles. Two metabolites, uric acid and proline, were significantly elevated in CHD and verified in two data sets. Uric acid was associated with CHD [odds ratio (OR): 7.69 (95% CI: 1.18–50.13) in the discovery set and 3.24 (95% CI:1.62–6.48) in the validation set]. Additionally, uric acid showed moderate predictive power; the area under curve (AUC) was 0.890 in the discovery set and 0.741 in the validation set. The sensitivity and specificity of uric acid to detect CHD was, respectively, 94.4 and 74.3% in the discovery set and 67.9 and 71.9% in the validation set. The identification of uric acid as a biomarker for CHD has the potential to stimulate research on the pathological mechanism of CHD and the development of a diagnostic test for clinical applications.

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“…Some studies have shown that microRNAs on chromosome 21 (mir-nov21) are involved in the regulation of cardiac development by regulating the expression of GATA4 and other genes, while the inactivation of the GATA4 gene in the early stage of cardiac development can lead to cardiac hypoplasia and endocardial cushion defects, which may be one of the reasons for the frequent combination of CHD in patients with DS [8,9]. In addition, aberrations on chromosome 21 have also been con rmed to affect the fusion of endocardial cushions, leading to CHD [10]. Studies have shown that AVSD, ASD and VSD are the most common CHD types in children with DS [11].…”

Section: Introductionmentioning

confidence: 99%

Characteristics of Intestinal Microbiota and Mother's Reproductive Tract Flora in Children With Down Syndrome

Liu

Dai

et al. 2021

Preprint

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Background: Patients with Down’s syndrome (DS) often have an increased rate of infections, hypertension, objectivity and gastrointestinal disorders, which are the most common abnormalities and have a significant impact on their daily life. The gut microbiota plays an important role in maintaining gut homeostasis and improving immunity and has been linked to the development of obesity, hypertension, and colon cancer. However, there are few studies on the intestinal flora and the mother's reproductive tract flora of children with DS in childhood. Therefore, 16S sequencing technology was used to analyze and explore the intestinal flora of children with DS and CHD patients in DS and the microbial abundance and diversity composition in the mother's reproductive tract. Results: We found that the gut microbiota in children with DS was mainly composed of Escherichia, Bifidobacterium, Clostridium and Bacteroides, which have significant differences in the abundance and diversity of intestinal flora compared with healthy children, and the abundance of Enterococcus and Erysipelatoclostridium in the intestine of children with CHD was significantly higher than that of children without CHD, and the relative abundance of Lactobacillus in the reproductive tract of mothers with DS was significantly higher than that of mothers with healthy children, which may suggest potential ways of using microbiome composition for prognosis and diagnosis. Through functional analysis, it was found that Down’s syndrome patients significantly downregulated immune system and their cell growth and nucleotide metabolism were lower than those of healthy children.Conclusion: We performed 16S rRNA gene sequencing on fecal samples from 60 children and vaginal swab samples from 63 mothers to identify a number of potentially important taxonomic, functional and microbiomes associated with congenital heart disease and Down’s syndrome. Structural changes and its correlation with the mother’s vaginal flora. Our analysis shows that the ecosystem associated with childhood congenital heart disease affects the selection of bacterial communities in the native microbiota, and we focus on specific bacteria and their relevance to disease.

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Molecular mechanisms of congenital heart disease in down syndrome

Cited by 16 publications

References 61 publications

"Prenatal Detection of Complete Atrioventricular Septal Defect: A Down - Klinefelter Syndrome Case Report from Vietnam"

"Prenatal Detection of Complete Atrioventricular Septal Defect: A Down - Klinefelter Syndrome Case Report from Vietnam"

Analysis of Biomarkers for Congenital Heart Disease Based on Maternal Amniotic Fluid Metabolomics

Characteristics of Intestinal Microbiota and Mother's Reproductive Tract Flora in Children With Down Syndrome

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