Elucidating Gene Functions in Congenital Heart Disease.

Authors

Sukanya Raghu, Ankit K Tamta, Sanchita Sanchaya Dey, Mohamed Imdhiyas Abdul Basheed, Aniqua Tasnim Chowdhury, Swetansu K Hota, Nathan J VanDusen

Published in

Current treatment options in cardiovascular medicine. Volume 28. Issue 1. Pages 27. Epub Oct 06, 2026.

Abstract

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.
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.
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.

PMID:
42845828
Bibliographic data and abstract were imported from PubMed on 08 Oct 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.