{
  "abstract": "Congenital heart disease (CHD) and neurodevelopmental disorders (NDDs) frequently co-occur, indicating that cardiac and neural phenotypes can arise from shared developmental disturbances rather than exclusively from the physiological consequences of heart disease. Copy number variations (CNVs) provide a major genomic basis for this overlap, but their effects extend beyond changes in protein-coding gene dosage. This review synthesizes evidence from recurrent CNV syndromes, genomic cohorts, developmental studies, and experimental models to define how CNVs jointly influence heart and brain development. We examine four interconnected mechanisms: dosage alteration of pleiotropic and multiple genes, disruption of non-coding regulatory elements, remodeling of non-coding RNA networks, and reorganization of three-dimensional chromatin architecture. We further describe how developmental timing, cell-type-specific regulatory context, additional genomic variants, cardiac physiology, and clinical exposures shape incomplete penetrance and variable expressivity. Together, these findings support a layered model in which a primary CNV establishes cross-organ susceptibility, whereas genetic and developmental modifiers determine whether CHD, NDD, or both become clinically manifest. Clinically, CNV diagnosis can inform neurodevelopmental surveillance, multisystem management, and genetic counseling. Genotype-first longitudinal cohorts, developmental multi-omics, parallel cardiac and neural models, and prospective clinical studies will advance individualized risk prediction and intervention.",
  "abstract_shown": true,
  "affiliations": [
    "Pediatric Translational Medicine Institute, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.",
    "Department of Neurology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.",
    "NHC Key Laboratory of Birth Defects Prevention, Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou 451163, China."
  ],
  "article_type": "review article",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Ziyi Ye",
      "orcid": "0009-0003-3708-7576"
    },
    {
      "affs": [
        1
      ],
      "name": "Yingzhong He"
    },
    {
      "affs": [
        0
      ],
      "name": "Jing Guo"
    },
    {
      "affs": [
        0
      ],
      "name": "Jiajia Meng"
    },
    {
      "affs": [
        1
      ],
      "name": "Yufei Xu"
    },
    {
      "affs": [
        1
      ],
      "name": "Yingyan Wang"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Bo Wang",
      "orcid": "0000-0003-4376-1398"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6ff7wbs0rda16.bib",
  "cited_by": 0,
  "doi": "10.3390/jcdd13100529",
  "fulltext_url": "https://europepmc.org/articles/PMC13704944",
  "id": "6ff7wbs0rda16",
  "issns": [
    "2308-3425"
  ],
  "landing_url": "https://europepmc.org/article/MED/42930925",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1311|Genomic variations and chromosomal abnormalities"
    ]
  ],
  "openalex": "W7223144987",
  "pdf_url": "https://europepmc.org/articles/PMC13704944?pdf=render",
  "pmcid": "PMC13704944",
  "pmid": "42930925",
  "published": "2026-10-21",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/6ff7wbs0rda16.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:22:01Z",
      "native_id": "MED:42930925",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42930925"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genomic variations and chromosomal abnormalities",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Genetic Insights into the Comorbidity of Congenital Heart Disease and Neurodevelopmental Disorders: Focus on Copy Number Variations.",
  "title_text": "Genetic Insights into the Comorbidity of Congenital Heart Disease and Neurodevelopmental Disorders: Focus on Copy Number Variations.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:22:01Z",
  "url": "https://research.draconitic.com/paper/6ff7wbs0rda16",
  "venue": "Journal of cardiovascular development and disease",
  "versions": []
}