scholarly journals In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease

2021 ◽  
Author(s):  
Shiva Abbasi ◽  
Neda Mohsen-Pour ◽  
Niloofar Naderi ◽  
Shahin Rahimi ◽  
Majid Maleki ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
In Silico ◽  
Structure Prediction ◽  
Congenital Heart ◽  
In Silico Analysis ◽  
Different Types ◽  
Frequent Variant ◽  
High Level ◽  
Silico Analysis

Introduction: Congenital heart disease (CHD) is the most common congenital abnormality and the main cause of infant mortality worldwide. Some of the mutations that occur in the GATA4 gene region may result in different types of CHD. Here, we report our in silico analysis of gene variants to determine the effects of the GATA4 gene on the development of CHD. Methods: Online 1000 Genomes Project, ExAC, gnomAD, GO-ESP, TOPMed, Iranome, GME, ClinVar, and HGMD databases were drawn upon to collect information on all the reported GATA4 variations.The functional importance of the genetic variants was assessed by using SIFT, MutationTaster, CADD,PolyPhen-2, PROVEAN, and GERP prediction tools. Thereafter, network analysis of the GATA4protein via STRING, normal/mutant protein structure prediction via HOPE and I-TASSER, and phylogenetic assessment of the GATA4 sequence alignment via ClustalW were performed. Results: The most frequent variant was c.874T>C (45.58%), which was reported in Germany.Ventricular septal defect was the most frequent type of CHD. Out of all the reported variants of GATA4,38 variants were pathogenic. A high level of pathogenicity was shown for p.Gly221Arg (CADD score=31), which was further analyzed. Conclusion: The GATA4 gene plays a significant role in CHD; we, therefore, suggest that it be accorded priority in CHD genetic screening.

scholarly journals A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease

2019 ◽  
Vol 11 (4) ◽  
pp. 287-299 ◽  
Author(s):  
Samira Kalayinia ◽  
Serwa Ghasemi ◽  
Nejat Mahdieh
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Frequency ◽  
In Silico ◽  
Congenital Heart ◽  
In Silico Analysis ◽  
Computational Tools ◽  
Phred Score ◽  
Functional Consequences ◽  
Silico Analysis

Introduction: Congenital heart disease (CHD) affects 1% to 2 % of live births. The Nkx2-5 gene, is known as the significant heart marker during embryonic evolution and it is also necessary for the survival of cardiomyocytes and homeostasis in adulthood. In this study, Nkx2-5 mutations are investigated to identify the frequency, distribution, functional consequences of mutations by using computational tools. <br /> Methods: A complete literature search was conducted to find Nkx2-5 mutations using the following key words: Nkx2-5 and/or CHD and mutations. The mutations were in silico analyzed using tools which predict the pathogenicity of the variants. A picture of Nkx2-5 protein and functional or structural effects of its variants were also figured using I-TASSER and STRING.<br /> Results: A total number of 105 mutations from 18 countries were introduced. The most (24.1%) and the least (1.49%) frequency of Nkx2-5 mutations were observed in Europe and Africa, respectively. The c.73C>T and c.533C>T mutations are distributed worldwide. c.325G>T (62.5%) and c.896A>G (52.9%) had the most frequency. The most numbers of Nkx2-5 mutations were reported from Germany. The c.541C>T had the highest CADD score (Phred score = 38) and the least was for c.380C>A (Phred score=0.002). 41.9% of mutations were predicted as potentially pathogenic by all prediction tools. <br /> Conclusion: This is the first report of the Nkx2-5 mutations evaluation in the worldwide. Given that the high frequency of mutation in Germany, and also some mutations were seen only in this country, therefore, presumably the main origin of Nkx2-5 mutations arise from Germany.

Atrial septal defects (ASDs)

2011 ◽  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Coronary Sinus ◽  
Patent Foramen Ovale ◽  
Congenital Heart ◽  
Septal Defect ◽  
Foramen Ovale ◽  
Septal Defects ◽  
Different Types

Introduction 94Ostium secundum ASD 96Ostium primum ASD 100Sinus venosus ASD 100Coronary sinus defect 102Patent foramen ovale 104Interatrial communications account for ~10% of congenital heart disease. Different types of atrial septal defect (ASD) are illustrated in Fig. 8.1.•...

Resting respiratory lung volumes are “healthier” than exercise respiratory volumes in different types of palliated or corrected congenital heart disease

2020 ◽  
Vol 55 (3) ◽  
pp. 697-705
Author(s):  
Marianna Fabi ◽  
Anna Balducci ◽  
Salvatore Cazzato ◽  
Arianna Aceti ◽  
Marcella Gallucci ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Lung Volumes ◽  
Different Types

scholarly journals Pattern of Congenital Heart Disease in Infants of Diabetic Mother

2014 ◽  
Vol 38 (2) ◽  
pp. 79-85 ◽  
Author(s):  
Shormin Ara Ferdousi ◽  
Ferdousur Rahman Sarker ◽  
Nasim Jahan ◽  
Nurunnahar Fatema
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Ventricular Hypertrophy ◽  
Diabetic Mother ◽  
Military Hospital ◽  
Infant Of Diabetic Mother ◽  
Different Types ◽  
One Year ◽  
Echocardiographic Findings

Background: The aim of the study was to unveil the prevalence of different types of Congenital Heart Disease (CHD) through echocardiogram and to perceive the utility of Echocardiogram in diagnosis of CHD in Infant of Diabetic Mother (IDM). Methodology: This explorative study was carried out at Combined Military Hospital (CMH) Dhaka, Bangladesh over a period of one year from July 2004 to June 2005. The study was done on 56 neonates of gestational diabetic mother irrespective of their gestational age and birth weight who were delivered at CMH. All the patients were evaluated by echocardiography by an expert pediatric cardiologist of the same institute within 7 days of delivery. Results: Out of 56 IDM 5.2% was normal. The most common Echo-cardiographic finding was patent Foramen Ovale (60.71%). Other different Echocardiographic findings were patent Ductusarteriosusin 31 (55.3%) cases, Hypertrophic Cardiomyopathy in 12 (21.42%) cases and ASD in 6 (10.71%) cases. Some other uncommon findings include Ventricular Septal Defect (VSD), Tricuspid Regurgitation(TR) and Right ventricular hypertrophy(RVH). Conclusion: These findings of CHD of Infant of Diabetic Mother (IDM) could demonstrate that Echocardiogram might be used as an effective tool to diagnose CHD for the IDM. DOI: http://dx.doi.org/10.3329/bjch.v38i2.21140 Bangladesh J Child Health 2014; VOL 38 (2) : 74-78

A LITERATURE REVIEW ON ANALYSIS OF PALM PATTERNS TO DETECT CONGENITAL HEART DISEASES

2020 ◽  
Vol 32 (02) ◽  
pp. 2050012
Author(s):  
Y. Mahesha ◽  
C. Nagaraju
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases ◽  
Normal People ◽  
Different Types ◽  
Left And Right ◽  
Paper Method

This paper presents the survey on different techniques which can be used to detect congenital heart disease using palm patterns. The congenital heart disease is one of the heart diseases which starts from birth. Research works are carried out towards detecting congenital heart disease before symptom appears using palm patterns so that it avoids critical health problems in future. Researchers have collected palm prints from normal people who are not suffering from any kind of heart disease and from patients who are suffering from different types of congenital heart diseases. These palm prints are collected from different hospitals. The palm prints are taken using ink and paper method. These palm patterns are analyzed to determine the role of palm pattern while detection of the disease. Few researchers have considered only triradius of palm and most of the researchers have considered palm patterns such as whorl, loop, arch and hypothenar pattern. In case of triradius, researchers have calculated position of axial triradius and it is categorized into three types. In case of whorl, loop and arch, they have considered how often they appear in palm of normal people and patients. Few researchers have analyzed both left and right hands of normal people and patients.

scholarly journals DNA methylation abnormalities of imprinted genes in congenital heart disease: A pilot study

2020 ◽  
Author(s):  
Shaoyan Chang ◽  
Yubo Wang ◽  
Yu Xin ◽  
Shuangxing Wang ◽  
Yi Luo ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Embryonic Development ◽  
Methylation Level ◽  
Congenital Heart ◽  
Imprinted Genes ◽  
Healthy Children ◽  
Chd Risk ◽  
Different Types ◽  
Genetic Aberration

Abstract Background: Congenital heart disease (CHD) is resulted from the interaction of genetic aberration and environmental factors. Imprinted genes, which are regulated by epigenetic modifications, are essential for the normal embryonic development. However, the role of imprinted genes in the etiology of CHD remains unclear. Results: We investigated the alterations effect of imprinted gene gDMR methylation in patients with CHD. Eighteen imprinted genes that are known to affect early embryonic development were selected and the methylation modification genes were detected by massarray in 27 CHD children and 28 healthy children. Altered gDMR methylation level of 8 imprinted genes was found, including 2 imprinted genes with hypermethylation of GRB10 and MEST and 6 genes with hypomethylation of PEG10, NAP1L5, INPP5F, PLAGL1, NESP and MEG3. Stratified analysis showed that the methylation degree of imprinted genes was different in different types of CHD. Risk analysis showed that 6 imprinted genes, except MEST and NAP1L5, within a specific methylation level range were the risk factors for CHDConclusion: Altered methylation of imprinted genes is associated with CHD and varies in different types of CHD. Further experiments are warranted to identify the methylation characteristics of imprinted genes in different types of CHD and clarify the pathogenesis mechanism of imprinted genes in CHD.

scholarly journals Factors associated with mothers' knowledge of children with congenital heart disease in Bangkok, Thailand

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Malatree Khouenkoup ◽  
Arunrat Srichantaranit ◽  
Wanida Sanasuttipun
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Rank Order ◽  
Severity Of Illness ◽  
Correlation Study ◽  
Knowledge Domain ◽  
Content Type ◽  
Exact Test ◽  
High Level

PurposeThis study aimed to determine mothers' knowledge of children with congenital heart disease (CHD) and to examine the relationship between types of CHD, the duration of treatments, the perception of the severity of illness and the mothers' knowledge.Design/methodology/approachA correlation study was conducted among 84 mothers of children (from infancy to six years old) with CHD who had attended pediatric cardiology clinics and pediatric units in three tertiary hospitals in Bangkok, Thailand. The two questionnaires aimed to evaluate the mothers' knowledge and perceptions of the severity of illness. Descriptive statistics, Spearman's rank-order correlation and Fisher's exact test were used to analyze the data.FindingsKnowledge levels of mothers of children with CHD were at a high level with a mean score of 34.79 (SD = 8.23), but the knowledge domain of preventing complications was at a low level with a mean score of 14.95 (SD = 5.28). The types of CHD and the perceptions of illness were not correlated with the mothers' knowledge, but the duration of treatments was significantly correlated (r = 0.271, p < 0.05).Originality/valueHealthcare professionals, especially nurses, should emphasize proper health education on complication prevention and the duration of treatments for children. Moreover, mothers should be supported to nurture children with CHD to reduce possible complications and prepare for cardiac surgery where needed.

METABOLIC ACIDOSIS IN CHILDREN WITH SEVERE CYANOTIC CONGENITAL HEART DISEASE

PEDIATRICS ◽  
1963 ◽  
Vol 31 (2) ◽  
pp. 251-254
Author(s):  
Norman L. Gootman ◽  
Emile M. Scarpelli ◽  
Abraham M. Rudolph
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Metabolic Acidosis ◽  
Congenital Heart ◽  
Respiratory Activity ◽  
Cyanotic Congenital Heart Disease ◽  
Arterial Pco2 ◽  
Respiratory Compensation ◽  
Pulmonary Flow ◽  
High Level

Four children with severe cyanotic congenital heart disease and markedly reduced effective pulmonary blood flow were studied by cardiac catheterization. All children were severely hypoxic and acidotic, while the sytemic arterial pCO2 was relatively normal. These factors tended to maintain respiratory activity at a high level. However, due to the decreased pulmonary flow, respiratory compensation for the acidosis was ineffective. The chronic, uncompensated metabolic acidosis and hypoxemia suggested that (1) anaerobic tissue metabolism is significant, and (2) renal function may be compromised, in children with severe cyanotic congenital heart disease.

Sign in / Sign up

Export Citation Format

Share Document