{
  "abstract": "Background: PRKAG2 syndrome is a rare glycogen-storage cardiomyopathy that can mimic sarcomeric hypertrophic cardiomyopathy (HCM). The diagnostic clue is not left ventricular hypertrophy alone, but the combination of hypertrophy with ventricular pre-excitation and conduction-system abnormalities. This pattern is clinically important because PRKAG2 syndrome differs from sarcomeric HCM in disease progression, arrhythmic risk, and long-term management.\n\nCase presentation: A 12-year-old boy presented with recurrent exertional chest tightness. Twelve-lead electrocardiography showed ventricular pre-excitation, and echocardiography demonstrated asymmetric non-obstructive left ventricular hypertrophy. An external Holter report recorded sinus bradycardia and nocturnal pauses. Genetic testing identified a heterozygous PRKAG2 variant, NM_016203:c.1423A>G (p.Lys475Glu), classified as likely pathogenic. The available report from a clinically indicated invasive electrophysiological procedure documented persistent pre-excitation and localized the earliest antegrade ventricular activation to the right midseptal para-Hisian region. Catheter ablation was deferred because no tachyarrhythmia had been documented and ablation near the His bundle carried a substantial risk of atrioventricular block. During approximately 2 years of follow-up, the patient remained clinically stable, with persistent hypertrophy and no major arrhythmic or conduction events.\n\nConclusions: In adolescents with otherwise unexplained ventricular hypertrophy, ventricular pre-excitation should prompt consideration of PRKAG2 syndrome and other HCM phenocopies, even without a positive family history. Recognition of this combined structural and electrical phenotype may facilitate earlier genetic diagnosis and guide long-term rhythm surveillance. The mechanism of pre-excitation should be described only to the extent supported by the available electrocardiographic and procedural documentation.",
  "abstract_shown": true,
  "affiliations": [
    "Heart Center, The First Hospital of Tsinghua University, School of Clinical Medicine, Tsinghua Medicine, Tsinghua University, Beijing, China"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Zonghui Hou"
    },
    {
      "affs": [
        0
      ],
      "name": "Xuechen Liu"
    },
    {
      "affs": [
        0
      ],
      "name": "Mengqi Zhao"
    },
    {
      "affs": [
        0
      ],
      "name": "Junxiang Pan"
    },
    {
      "affs": [
        0
      ],
      "name": "Feiyang Wang"
    },
    {
      "affs": [
        0
      ],
      "name": "Chunbo Wang"
    },
    {
      "affs": [
        0
      ],
      "name": "Lianyi Wang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/8r57pbmc2ym4f.bib",
  "cited_by": 0,
  "doi": "10.1186/s12872-026-06433-0",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13732934/",
  "id": "8r57pbmc2ym4f",
  "issns": [
    "1471-2261"
  ],
  "landing_url": "https://doi.org/10.1186/s12872-026-06433-0",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
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      "lcc",
      "RC666-701"
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      "openalex",
      "2705|Cardiomyopathy and Myosin Studies"
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  "pdf_url": null,
  "pmcid": "PMC13732934",
  "pmid": "42983307",
  "published": "2026-08-01",
  "publisher": "BMC",
  "ris": "https://research.draconitic.com/paper/8r57pbmc2ym4f.ris",
  "sources": [
    {
      "first_seen": "2026-11-08T12:22:50Z",
      "native_id": "PMC13732934",
      "source": "pmc",
      "url": "https://doi.org/10.1186/s12872-026-06433-0"
    },
    {
      "first_seen": "2026-11-08T14:20:53Z",
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      "url": "https://doi.org/10.1186/s12872-026-06433-0"
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2705|Cardiomyopathy and Myosin Studies",
      "subfield": "cardiovascular"
    }
  ],
  "title": "Early recognition of PRKAG2 syndrome in an adolescent with a hypertrophic cardiomyopathy phenotype and ventricular pre-excitation: a case report",
  "title_text": "Early recognition of PRKAG2 syndrome in an adolescent with a hypertrophic cardiomyopathy phenotype and ventricular pre-excitation: a case report",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T14:20:53Z",
  "url": "https://research.draconitic.com/paper/8r57pbmc2ym4f",
  "venue": "BMC Cardiovascular Disorders",
  "versions": []
}