Sukanya Raghu, Ankit K Tamta, Sanchita Sanchaya Dey, Mohamed Imdhiyas Abdul Basheed, Aniqua Tasnim Chowdhury, Swetansu K Hota, Nathan J VanDusen
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引用次数: 0
Abstract
Purpose of review: Congenital heart defects (CHDs) arise from disruption of precisely orchestrated developmental programs that coordinate cardiac lineage specification, morphogenesis, maturation, and tissue remodeling. This review highlights recent advances in experimental systems used to connect CHD-associated genes and variants to developmental mechanisms.
Recent findings: In vivo mouse and vertebrate studies have refined models of early cardiogenic mesoderm formation, heart-field allocation, valve development, outflow tract morphogenesis, epicardial-myocardial interactions, and ventricular compaction. Parallel work on postnatal cardiac maturation highlights how RNA processing, metabolic remodeling, immune signaling, and non-myocyte populations influence cardiomyocyte maturation and regenerative competence, with implications for long-term outcomes in CHD survivors. Human pluripotent stem cell models provide complementary platforms for investigating gene functions: two-dimensional differentiation enables scalable, temporally controlled analysis of lineage commitment and cell-autonomous phenotypes, whereas organoids and other three-dimensional models introduce spatial organization, multicellular interactions, and tissue-level readouts. Genome editing, CRISPR screening, base and prime editing, regulatory-element assays, and inducible protein-depletion systems now allow increasingly precise and high-throughput characterization of coding and noncoding variants.
Summary: Together, these advances are enabling a transition in CHD research from descriptive genomics to integrated, multi-model approaches that connect genetic variation to gene function, developmental mechanisms, and disease phenotypes.
期刊介绍：
This journal aims to review the most important, recently published treatment-related advances in cardiovascular medicine. By providing clear, insightful, balanced contributions by international experts, the journal intends to elucidate novel approaches to treatment in those affected by the spectrum of cardiovascular-related diseases and conditions. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as coronary artery disease, cerebrovascular disease and stroke, heart failure, pediatric and congenital heart disease, and valvular, myocardial, pericardial, and cardiopulmonary diseases. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. We also provide commentaries from well-known figures in the field, and an international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research.
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