Purpose of Review <p>Congenital heart disease (CHD) is the most common birth defect, prompting extensive research into its causes. Modeling CHD enables understanding the mechanisms underlying its formation, which is critical for improved prevention, diagnosis, and treatment. This review summarizes recent advances in CHD modeling, highlighting strengths and limitations of current approaches and identifying opportunities presented by emerging technologies.</p> Recent Findings <p>Recent studies combine animal models and patient-derived induced pluripotent stem cells (iPSCs) with sequencing technologies to explore CHD mechanisms. Approaches include genotype-driven modeling of single-gene and oligogenic causes, phenotype-driven modeling, modeling environmental factors, and large-scale screening of genetic variants in vivo and in vitro. Emerging technologies such as spatial transcriptomics, cardiac organoids, and engineered heart tissues provide promising new angles for CHD modeling.</p> Summary <p>Integrating diverse modeling approaches and advanced technologies offers significant potential to reveal mechanisms underlying CHD. Systematic harnessing of omics and big data can facilitate unbiased discovery and ultimately transform CHD patient care.</p>

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The Heart from Every Angle: Recent Approaches To Modeling Congenital Heart Disease

  • Tasneem A. M. Ebrahim,
  • Felix Richter,
  • Bruce D. Gelb,
  • Nicole C. Dubois

摘要

Purpose of Review

Congenital heart disease (CHD) is the most common birth defect, prompting extensive research into its causes. Modeling CHD enables understanding the mechanisms underlying its formation, which is critical for improved prevention, diagnosis, and treatment. This review summarizes recent advances in CHD modeling, highlighting strengths and limitations of current approaches and identifying opportunities presented by emerging technologies.

Recent Findings

Recent studies combine animal models and patient-derived induced pluripotent stem cells (iPSCs) with sequencing technologies to explore CHD mechanisms. Approaches include genotype-driven modeling of single-gene and oligogenic causes, phenotype-driven modeling, modeling environmental factors, and large-scale screening of genetic variants in vivo and in vitro. Emerging technologies such as spatial transcriptomics, cardiac organoids, and engineered heart tissues provide promising new angles for CHD modeling.

Summary

Integrating diverse modeling approaches and advanced technologies offers significant potential to reveal mechanisms underlying CHD. Systematic harnessing of omics and big data can facilitate unbiased discovery and ultimately transform CHD patient care.