The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)
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PROVIDER: PRJNA625349 | ENA |
REPOSITORIES: ENA
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Project description:The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)
| PRJNA625348 | ENA
Project description:The Institute for Genomic Medicine at Nationwide Children's Hospital Pediatric Cancer and Blood Disorder Project
| PRJNA540719 | ENA
Project description:The Institute for Genomic Medicine at Nationwide Children's Hospital Pediatric Cancer and Blood Disorder Project
| PRJNA540720 | ENA
Project description:Congenital heart disease (CHD) is the most frequent birth defect and affects nearly 1% of newborns. The etiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal imbalances have been identified in many forms of syndromic CHD, but next to nothing is known about the impact of DNA copy number changes in non-syndromic CHD. Here we present a sub-megabase resolution array CGH screen of a cohort with CHD as the sole abnormality at the time of diagnosis. Keywords: array CGH In this BAC array CGH study 104 patients with congenital heart disease and some of their parents were screened for DNA copy number changes at submegabase resolution. No dye swap was performed.
2008-05-11 | E-GEOD-7527 | biostudies-arrayexpress
Project description:Congenital heart disease (CHD) is the most frequent birth defect and affects nearly 1% of newborns. The etiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal imbalances have been identified in many forms of syndromic CHD, but next to nothing is known about the impact of DNA copy number changes in non-syndromic CHD. Here we present a sub-megabase resolution array CGH screen of a cohort with CHD as the sole abnormality at the time of diagnosis. Keywords: array CGH
2008-05-12 | GSE7527 | GEO
Project description:The heart, the first organ to develop, undergoes complex morphogenesis that when defective results in congenital heart disease (CHD). With current therapies, more than 90% of CHD patients survive into adulthood but often suffer premature death from heart failure (HF) and non-cardiac causes 1. To gain insight into poorly understood disease progression, we performed single nuclear RNA sequencing (snRNA-seq) and analyzed more than 157,000 nuclei from donors and CHD patients, including hypoplastic left heart syndrome (HLHS) and Tetralogy of Fallot (TOF), two common forms of cyanotic CHD lesions, as well as, dilated (DCM) and hypertrophic (HCM) cardiomyopathies. We observed CHD specific cell states in cardiomyocytes (CMs) which had evidence of insulin resistance and increased FOXO and CRIM1 expression. Cardiac fibroblasts (CFs) in HLHS had enrichment for a low HIPPO and high YAP cell state characteristic of activated CFs. Imaging Mass Cytometry (IMC) uncovered the spatially resolved perivascular microenvironment consistent with an immunodeficient state in CHD. Peripheral immune cell profiling suggested deficient monocytic immunity in CHD in agreement with CHD predilection to infection and cancer 2. Our comprehensive CHD phenotyping provides a roadmap for future personalized medicine in CHD.
2022-06-22 | GSE203274 | GEO
Project description:The heart, the first organ to develop, undergoes complex morphogenesis that when defective results in congenital heart disease (CHD). With current therapies, more than 90% of CHD patients survive into adulthood but often suffer premature death from heart failure (HF) and non-cardiac causes 1. To gain insight into poorly understood disease progression, we performed single nuclear RNA sequencing (snRNA-seq) and analyzed more than 157,000 nuclei from donors and CHD patients, including hypoplastic left heart syndrome (HLHS) and Tetralogy of Fallot (TOF), two common forms of cyanotic CHD lesions, as well as, dilated (DCM) and hypertrophic (HCM) cardiomyopathies. We observed CHD specific cell states in cardiomyocytes (CMs) which had evidence of insulin resistance and increased FOXO and CRIM1 expression. Cardiac fibroblasts (CFs) in HLHS had enrichment for a low HIPPO and high YAP cell state characteristic of activated CFs. Imaging Mass Cytometry (IMC) uncovered the spatially resolved perivascular microenvironment consistent with an immunodeficient state in CHD. Peripheral immune cell profiling suggested deficient monocytic immunity in CHD in agreement with CHD predilection to infection and cancer 2. Our comprehensive CHD phenotyping provides a roadmap for future personalized medicine in CHD.
2022-06-22 | GSE203273 | GEO
Project description:To explore molecular mechanisms affecting nutritional risk and neurodevelopment in children with congenital heart disease (CHD) by combining transcriptome and metabolome analysis. In this study, transcriptomic and metabolomic analysis of blood and serum samples from 26 children with CHD was performed to search for key DEGs and DEMs, and explore molecular mechanisms affecting nutritional risk and neurodevelopment in children with CHD.
2024-08-28 | GSE267250 | GEO
Project description:Background:Femaleinfantswith congenital heart disease (CHD)facesignificantlyhigherpostoperativemortality ratesafter adjusting for cardiac complexity.Sex differences in metabolic adaptation to cardiac stressors maybe an earlycontributor tocardiac dysfunction.In adult diseases, hypoxic/ischemic cardiomyocytesundergo acardioprotectivemetabolicshift fromoxidative phosphorylation to glycolysiswhichappears to be regulated in a sexually dimorphic manner.We hypothesizesex differences incardiacmetabolismare presentincyanotic CHDand detectable asearly as theinfantperiod. Methods:RNA sequencingwas performedon blood samples(cyanotic CHD cases,n=11;controls,n=11)andanalyzedusinggene set enrichment analysis (GSEA). Global plasma metaboliteprofiling(UPLC-MS/MS)was performedusinga larger representative cohort(cyanotic CHD,n = 27;non-cyanotic CHD,n = 11;unaffectedcontrols,n = 12). Results:Hallmark gene sets in glycolysis, fatty acid metabolism, and oxidative phosphorylationwere significantly enrichedincyanotic CHDfemales compared to malecounterparts, which was consistent withmetabolomicdifferences between sexes.Minimalsex differencesinmetabolicpathwayswereobservedinnormoxicpatients(bothcontrols and non-cyanotic CHDcases). Conclusion:These observationssuggestunderlying differences inmetabolicadaptationtochronic hypoxiabetween males and females withcyanotic CHD.
2024-07-01 | GSE269353 | GEO
Project description:Enhancers orchestrate gene expression programs that drive multicellular development and lineage commitment. Thus, genetic variants at enhancers are thought to contribute to developmental diseases by altering cell fate commitment. However, while many variant-containing enhancers have been identified, systematic studies to endogenously test the impact of these enhancers on lineage commitment have been lacking. We performed a single-cell CRISPRi screen to directly assess the roles of 25 enhancers and putative cardiac target genes implicated in genetic studies of congenital heart defects (CHD). We identified 16 enhancers whose repression leads to delayed differentiation of human cardiomyocytes. A focused analysis on 6 TBX5 enhancers showed that TBX5 enhancer perturbation delays the transcriptional switch from mid-CM to late-CM states. Knockout of two TBX5 enhancers resulted in X and Y, which phenocopy expected CHD phenotypes. Together, these results identify critical enhancers of cardiac development and suggest that misregulation of these enhancers could contribute to cardiac defects in human patients.
2022-05-15 | GSE190475 | GEO