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Peer-reviewedCC BYPhenomics (Cham, Switzerland)

Cardiac Organoids Uncover an Association of CHD7 Deficiency with Congenital Heart Disease.

  • Siyu Sun1,2,3
  • Zhiyu Feng2,4
  • Weilan Na1,2,3
  • Yuan Gao2,4
  • Shaojie Min2,4
  • Quannan Zhuang2,4
  • Siyi Lin2,4
  • Quming Zhao2,4
  • Xianghui Huang5
  • Hongmei Song3
  • Wei Sheng2,4,5
  • Guoying Huang1,2,4,5
5 affiliations
  1. 1Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Department of Pediatrics, Research Unit of Early Intervention of Genetically Related Childhood Cardiovascular Diseases (2018RU002), Children's Hospital of Fudan University, Shanghai, 201102 China.
  2. 2Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, 201102 China.
  3. 3Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730 China.
  4. 4Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai, 201002 China.
  5. 5Fujian Key Laboratory of Neonatal Diseases, Xiamen Children's Hospital, Fujian, 361006 China.
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Abstract

CHD7 (Chromodomain helicase DNA-binding protein 7) encodes an ATP-dependent chromatin remodeler, and pathogenic disruption of CHD7 underlies CHARGE syndrome(Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital abnormalities, Ear abnormalities syndrome), a congenital disorder frequently accompanied by complex cardiac malformations. However, how CHD7 contributes to human cardiogenesis remains poorly defined. Here, we use multi-chamber cardiac organoids derived from human embryonic stem cells, which capture key features of early cardiac morphogenesis and regional lineage patterning, to interrogate CHD7 function. CHD7 loss leads to attenuation of cardiac progenitor gene programs, disrupted chamber organization, reduced efficiency of cardiomyocyte differentiation, and markedly impaired contractile function. Bulk RNA sequencing further reveals broad misregulation of transcriptional modules involved in cardiogenic signaling, regional progenitor patterning, and myocardial maturation. Together, these data establish a human organoid framework for modelling CHD7-associated congenital heart disease and identify CHD7 as a key regulator of cardiac morphogenesis and the acquisition of functional cardiomyocyte properties. The online version contains supplementary material available at https://doi.org/10.1007/s43657-026-00319-z.

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Cite

BibTeXRIS
BibTeX
@article{sun2026cardiac,
  title = {{Cardiac Organoids Uncover an Association of CHD7 Deficiency with Congenital Heart Disease.}},
  author = {Siyu Sun and Zhiyu Feng and Weilan Na and Yuan Gao and Shaojie Min and Quannan Zhuang and Siyi Lin and Quming Zhao and Xianghui Huang and Hongmei Song and Wei Sheng and Guoying Huang},
  journal = {Phenomics (Cham, Switzerland)},
  year = {2026},
  month = jul,
  doi = {10.1007/s43657-026-00319-z},
  url = {https://europepmc.org/article/MED/42999473},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Cardiac Organoids Uncover an Association of CHD7 Deficiency with Congenital Heart Disease.
AU  - Siyu Sun
AU  - Zhiyu Feng
AU  - Weilan Na
AU  - Yuan Gao
AU  - Shaojie Min
AU  - Quannan Zhuang
AU  - Siyi Lin
AU  - Quming Zhao
AU  - Xianghui Huang
AU  - Hongmei Song
AU  - Wei Sheng
AU  - Guoying Huang
PY  - 2026
DA  - 2026/07/09
JO  - Phenomics (Cham, Switzerland)
DO  - 10.1007/s43657-026-00319-z
UR  - https://europepmc.org/article/MED/42999473
AB  - CHD7 (Chromodomain helicase DNA-binding protein 7) encodes an ATP-dependent chromatin remodeler, and pathogenic disruption of CHD7 underlies CHARGE syndrome(Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital abnormalities, Ear abnormalities syndrome), a congenital disorder frequently accompanied by complex cardiac malformations. However, how CHD7 contributes to human cardiogenesis remains poorly defined. Here, we use multi-chamber cardiac organoids derived from human embryonic stem cells, which capture key features of early cardiac morphogenesis and regional lineage patterning, to interrogate CHD7 function. CHD7 loss leads to attenuation of cardiac progenitor gene programs, disrupted chamber organization, reduced efficiency of cardiomyocyte differentiation, and markedly impaired contractile function. Bulk RNA sequencing further reveals broad misregulation of transcriptional modules involved in cardiogenic signaling, regional progenitor patterning, and myocardial maturation. Together, these data establish a human organoid framework for modelling CHD7-associated congenital heart disease and identify CHD7 as a key regulator of cardiac morphogenesis and the acquisition of functional cardiomyocyte properties. The online version contains supplementary material available at https://doi.org/10.1007/s43657-026-00319-z.
SN  - 2730-583X
SN  - 2730-5848
ER  -