Congenital Heart Disease Pilot
Ontology highlight
ABSTRACT:
PROVIDER: EGAS00001000425 | EGA |
REPOSITORIES: EGA
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Project description:This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Congenital Heart Disease (CHD).
| EGAD00001000351 | EGA
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:This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Bilateral Anophthalmia.
| EGAS00001000356 | EGA
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:This pilot study aims to generate pilot data to inform future study designs by resequencing the whole exomes of 10 unrelated individuals diagnosed with Bilateral Anophthalmia.
| EGAD00001000348 | EGA
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:The goal of this study was to explore the miRNome profile in three frequently occurring Congenital Heart Disease (CHD) types, namely Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD) and Tetralogy of Fallot (TOF). For this purpose, we extracted total RNA from the cardiac tissues of patients with CHD and non-CHD, which was subjected to high-throughput sequencing technology to profile the miRNAs. The small RNA sequencing data was analyzed using the nf-core bioinformatic analysis pipeline. There were 40 up-regulated and 8 down-regulated miRNAs identified to be differentially expressed. These miRNAs are predicted to target several genes involved in regulatory pathways such as cell proliferation, differentiation, cell survival, etc. The results from this study are expected to expand the existing knowledge on molecular basis of CHD. Functional validation can throw insights on molecular epidemiology and therapy for heart diseases.
2022-10-02 | GSE185565 | GEO
Project description:Pulmonary arterial hypertension (PAH) is a common and serious complication of left-to-right shunt congenital heart disease (CHD).Some studies have provided evidence indicating that various circRNAs are abnormally expressed in pulmonary hypertension. However, the diagnostic value and biological functions of circRNAs in PAH remain largely elusive. To study the potential roles of circRNAs in PAH, we performed microarray analysis to identify circRNAs differentially expressed between pediatric patients with PAH due to CHD and control subjects.
2021-04-11 | GSE171827 | GEO
Project description:Heart failure in congenital heart disease (CHD) has no effective treatment besides heart transplantation. While hemodynamic etiology is suggested, here we show hypoplastic left heart syndrome (HLHS), a severe CHD is a mitochondrial disease from analysis of HLHS mice and patient derived induced pluripotent stem cell cardiomyocytes (iPSC-CM). The iPSC-CM from patients suffering heart failure or death, but not those with long-term survival, showed reduced cell proliferation with increased apoptosis, mitochondrial hyperfusion with respiration defect and redox stress. Single cell sequencing showed protein synthesis overload with unfolded protein response. Drugs targeting the mitochondria restored metabolic function and rescued cell proliferation and apoptosis, suggesting new stragegies for heart failure therapy in CHD.
2022-04-07 | GSE146341 | GEO