Decoding congenital heart disease: a multi-omic framework for cardiac lineage and regulatory dysfunction

Congenital heart disease (CHD) is the most prevalent birth defect worldwide, arising from disruptions in the tightly regulated processes of cardiac lineage specification and morphogenesis. Traditional models linking genotype to phenotype have been limited by low resolution and insufficient temporal...

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Veröffentlicht in:Frontiers in cell and developmental biology Jg. 13; S. 1659884
Hauptverfasser: Lv, Huasheng, Sun, Fengyu, Chen, You
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Switzerland Frontiers Media SA 2025
Frontiers Media S.A
Schlagworte:
cardiac development
Cardiovascular disease
Congenital defects
Congenital diseases
congenital heart disease
DNA methylation
Epigenetics
Genome-wide association studies
Genotypes
Heart
Heart diseases
lineage tracing
Metabolism
Morphogenesis
Mutation
Neural crest
Neural stem cells
Organoids
Phenotypes
Progenitor cells
single-cell sequencing
spatial transcriptomics
Transcription factors
Transcriptomics
congenital heart disease
single-cell sequencing
lineage tracing
cardiac development
spatial transcriptomics
ISSN:2296-634X, 2296-634X
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Zusammenfassung:Congenital heart disease (CHD) is the most prevalent birth defect worldwide, arising from disruptions in the tightly regulated processes of cardiac lineage specification and morphogenesis. Traditional models linking genotype to phenotype have been limited by low resolution and insufficient temporal mapping. Recent advances in single-cell RNA sequencing, spatial transcriptomics, and integrative multi-omics have transformed our understanding of CHD by enabling high-resolution analyses of the cellular origins and regulatory landscapes underlying malformations. This review synthesizes current insights into the developmental trajectories of first and second heart field progenitors, cardiac neural crest cells, and emerging progenitor populations. We highlight how combining genome-wide association studies with single-cell and spatial atlases can map non-coding risk variants to precise spatiotemporal cell states. Additionally, cardiac organoid and engineered developmental models provide innovative platforms for validating gene function and modeling lineage-specific defects in human tissues. Together, these technologies are shifting CHD research toward a mechanistic, cell-type–resolved framework, opening new avenues for precision diagnostics, targeted prevention, and regenerative therapies aimed at restoring normal cardiac development.
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ISSN:2296-634X
2296-634X
DOI:10.3389/fcell.2025.1659884