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ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

ABSTRACT: ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

PROVIDER: PRJNA1040828 | ENA |

REPOSITORIES: ENA

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ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

Project description:Non-syndromic congenital heart defects (CHD) are occasionally familial and left ventricular out flow tract obstruction (LVOTO) defects are among the subtypes with the highest hereditability. The aim of this study was to evaluate the pathogenicity of a heterozygous ERBB2 variant R599C identified in three families with LVOTO defects.

2024-12-14 | GSE247858 | GEO

ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

2023-10-19 | MSV000093153 | MassIVE

A surgical mouse model of neonatal right ventricular outflow tract obstruction by pulmonary artery banding

Project description:Disease animal models play an extremely important role in preclinical research. Lack of corresponding animal models, many basic research cannot be carried out, and the conclusions obtained are incomplete or even incorrect. Right ventricular (RV) outflow tract (RVOT) obstruction leads to RV pressure overload (PO) and reduced pulmonary blood flow (RPF), which are two of the most important pathophysiological characteristics in pediatric cardiovascular diseases, and seriously affect the survival rate and long-term life quality of many children. Due to the lack of a neonatal mouse model for RVOT obstruction, it is largely unknown how RV PO and RPF regulate postnatal RV and pulmonary development. Thus, many treatment are directly applied from adults despite significant differences in cardiovascular physiology between infants and adults, with limited or even harmful results. Here we firstly introduced a neonatal mouse model of RVOT obstruction by pulmonary artery banding (PAB) on postnatal day 1. PAB induced neonatal RVOT obstruction, RV PO, and RPF. Neonatal RV PO induced cardiomyocyte proliferation, and neonatal RPF induced pulmonary dysplasia, the two features that can not be observed in adult RVOT obstruction. As a result, PAB pups exhibited overall developmental dysplasia, a sign similar to that of children with RVOT obstruction. Since many pediatric cardiovascular diseases are associated with RV PO and RPF, the introduction of neonatal mouse model of RVOT obstruction may greatly enhance our understanding of those diseases, and eventually save or improve the lives of many children. We used C57 mice in this study and divided them into sham and PAB group, each group contain 3 replicates.

2024-05-09 | GSE232054 | GEO

A surgical mouse model of neonatal right ventricular outflow tract obstruction by pulmonary artery banding

Project description:A surgical mouse model of neonatal right ventricular outflow tract obstruction by pulmonary artery banding

| PRJNA970714 | ENA

Sequential defects in cardiac lineage commitment and maturation cause hypoplastic left heart syndrome

Project description:Complex molecular programs in specific cell lineages govern human heart development. Hypoplastic left heart syndrome (HLHS) is the most severe congenital heart defect encompassing a spectrum of left-ventricular hypoplasia occurring in association with outflow-tract obstruction. The current clinical paradigm assumes HLHS is largely of hemodynamic origin. Here, by combining whole-exome sequencing of 87 HLHS parent-offspring trios and transcriptome of cardiomycytes (CMs) from healthy and patient native ventricles at different stages of development we identified perturbations in coherent gene programs controlling ventricular muscle lineage development. Single-cell and 3D molecular/functional modeling with iPSCs demonstrated intrinsic defects in the cell-cycle/ciliogenesis/autophagy hub resulting in disrupted differentiation of early cardiac progenitor (CP) lineages and ultimate defective CM-subtype differentiation/maturation in HLHS. Moreover, premature cellcycle exit of ventricular CM prevents tissue response to cues of developmental growth leading to multinucleation/polyploidy, accumulation of DNA damage, exacerbated apoptosis, and eventually ventricle hypoplasia. Our results highlight how genetic heterogeneity in HLHS converges in perturbations of sequential cellular processes driving cardiogenesis and facilitate potential novel nodes for therapy beside surgical intervention.

2022-02-15 | PXD014812 | Pride

An unusual cause of left ventricular outflow tract obstruction.

Project description:Left ventricular outflow tract obstruction (LVOTO) has been reported with bio-prosthetic and mechanical mitral valves (MV), though it is more common with the former. The obstruction can be dynamic or fixed. We hereby report a case of fixed LVOTO following bio-prosthetic MV replacement (MVR).

| S-EPMC4561759 | biostudies-literature

Isolated sub-aortic obstruction - A cause of left ventricular outflow tract obstruction.

Project description: Not available

| S-EPMC10231731 | biostudies-literature

Left ventricular apex samples

Project description:19 paired human left ventricular apex samples were harvested at the time of implant of a left ventricular assist device (PRE) and at the time of explant (POST). The cohort included patients that were clinically classified as "ischemic" (I) showing evidence of coronary artery disease, "non-ischemic" (N) no evidence of coronary artery disease or "acute Myocardial infarction" (IM) myocardial infarction within 10 days of the implant. Tissue was processed and hybridized to the Affymetrix HG-U133A chip. Keywords: other

2004-01-18 | GSE974 | GEO

Ribo-seq of murine left ventricular tissues

Project description:Ribo-seq of murine left ventricular tissues

| PRJEB35636 | ENA

Studies of Left Ventricular Dysfunction (SOLVD-BioLINCC)

Project description:Studies of Left Ventricular Dysfunction (SOLVD-BioLINCC)

| PRJNA1120513 | ENA