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BulkRNA Sequencing of human induced pluripotent stem cells derived cardiac progenitors (hiPSC-CPs) from healthy control, tetralogy of Fallot (TOF) patients with DiGeorge Syndrome (DG) and without DiGeorge Syndrome (ND)

ABSTRACT: To assess the transcriptomic changes during in vitro cardiac differentiation

ORGANISM(S): Homo sapiens

PROVIDER: GSE196578 | GEO | 2025/02/11

REPOSITORIES: GEO

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Transcriptomic profiling of human induced pluripotent stem cells derived cardiomyocytes (hiPSC-CMs) and cardiac progentiors (hiPSC-CPs) from tetralogy of Fallot (TOF) patients with DiGeorge Syndrome (DG) and without DiGeorge Syndrome (ND)

Project description:DG accounts for most of the identifiable cases of TOF. Exploring and comparing the transcriptome of hiPSC-CMs and hiPSC-CPs from TOF-DG and TOF-ND could provide a bettering understanding on TOF.

2023-08-29 | GSE186293 | GEO

BulkRNA Sequencing of human induced pluripotent stem cells derived cardiac progenitors (hiPSC-CPs) from healthy control, tetralogy of Fallot (TOF) patients with DiGeorge Syndrome (DG) and without DiGeorge Syndrome (ND)

Project description:BulkRNA Sequencing of human induced pluripotent stem cells derived cardiac progenitors (hiPSC-CPs) from healthy control, tetralogy of Fallot (TOF) patients with DiGeorge Syndrome (DG) and without DiGeorge Syndrome (ND)

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Project description:Transcriptomic profiling of human induced pluripotent stem cells derived cardiomyocytes (hiPSC-CMs) and cardiac progentiors (hiPSC-CPs) from tetralogy of Fallot (TOF) patients with DiGeorge Syndrome (DG) and without DiGeorge Syndrome (ND)

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Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome.

Project description:Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Ventricular dysfunction and cardiac arrhythmias are well-documented complications in patients with repaired TOF. Whether intrinsic abnormalities exist in TOF cardiomyocytes is unknown. We establish human induced pluripotent stem cells (hiPSCs) from TOF patients with and without DiGeorge (DG) syndrome, the latter being the most commonly associated syndromal association of TOF. TOF-DG hiPSC-derived cardiomyocytes (hiPSC-CMs) show impaired ventricular specification, downregulated cardiac gene expression and upregulated neural gene expression. Transcriptomic profiling of the in vitro cardiac progenitors reveals early bifurcation, as marked by ectopic RGS13 expression, in the trajectory of TOF-DG-hiPSC cardiac differentiation. Functional assessments further reveal increased arrhythmogenicity in TOF-DG-hiPSC-CMs. These findings are found only in the TOF-DG but not TOF-with no DG (ND) patient-derived hiPSC-CMs and cardiac progenitors (CPs), which have implications on the worse clinical outcomes of TOF-DG patients.

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Newborn blood DNA epigenetic variations and signaling pathway genes associated with Tetralogy of Fallot (TOF).

Project description:Tetralogy of Fallot (TOF) is the most common Critical Congenital Heart Defect (CCHD). The etiology of TOF is unknown in most cases. Preliminary data from our group and others suggest that epigenetic changes may play an important role in CHD. Epidemiologically, a significant percentage of CHD including TOF fail to be diagnosed in the prenatal and early newborn period which can negatively affect health outcomes. We performed genome-wide methylation assay in newborn blood in 24 non-syndromic TOF cases and 24 unaffected matched controls using Illumina Infinium HumanMethylation450 BeadChips. We identified 64 significantly differentially methylated CpG sites in TOF cases, of which 25 CpG sites had high predictive accuracy for TOF, based on the area under the receiver operating characteristics curve (AUC ROC) ? 0.90). The CpG methylation difference between TOF and controls was ?10% in 51 CpG targets suggesting biological significance. Gene ontology analysis identified significant biological processes and functions related to these differentially methylated genes, including: CHD development, cardiomyopathy, diabetes, immunological, inflammation and other plausible pathways in CHD development. Multiple genes known or plausibly linked to heart development and post-natal heart disease were found to be differentially methylated in the blood DNA of newborns with TOF including: ABCB1, PPP2R5C, TLR1, SELL, SCN3A, CREM, RUNX and LHX9. We generated novel and highly accurate putative molecular markers for TOF detection using leucocyte DNA and thus provided information on pathogenesis of TOF.

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Project description:Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Therefore, the diagnosis of this syndrome in the first years of life is challenging. We report a 2-year-old girl diagnosed with Myhre syndrome by whole exome sequencing (WES) that revealed the recurrent p.Ile500Val mutation in the SMAD4 gene. Our patient presented with growth deficiency, dysmorphic features, tetralogy of Fallot, and corectopia (also known as ectopia pupillae). The girl we described is the youngest patient with Myhre syndrome. Moreover, corectopia and tetralogy of Fallot have not been previously reported in this disorder.

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Tetralogy of Fallot: cardiac imaging evaluation.

Project description:Thanks to advances in pediatric cardiology, most infants with tetralogy of Fallot (TOF) now survive into adulthood. This relatively new population of adult patients may face long-term complications, including pulmonary regurgitation (PR), right ventricular (RV) tract obstruction, residual shunts, RV dysfunction, and arrythmias. They will often need to undergo pulmonary valve (PV) replacement and other invasive re-interventions. However, the optimal timing for these procedures is challenging, largely due to the complexity of evaluating RV volume and function. The options for the follow-up of these patients have rapidly evolved from an angiography-based approach to the surge of advanced imaging techniques, mainly echocardiography, cardiac magnetic resonance (CMR), and computer tomography (CT). In this review, we outline the indications, strengths and limitations of these modalities in the adult TOF population.

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