{
  "abstract": "Background: Dilated cardiomyopathy (DCM) is genetically heterogeneous. In severe non-ischemic DCM with familial clustering of heart-failure deaths, genetic testing and pedigree analysis may clarify etiology and guide cascade screening.\n\nCase presentation: A 40-year-old woman presented with progressive dyspnea, chest tightness, and palpitations after an upper respiratory tract infection. Echocardiography showed severe left ventricular systolic dysfunction [left ventricular ejection fraction (LVEF) approximately 20%], left atrial enlargement, functional mitral regurgitation, and a small pericardial effusion. Serial cardiac troponin I and myocardial enzyme measurements remained within the reference ranges. Coronary angiography excluded obstructive coronary disease. Cardiovascular magnetic resonance (CMR) demonstrated global left ventricular hypokinesis and a clinically reported non-ischemic late-gadolinium-enhancement pattern at the papillary-muscle level involving the anterior/lateral wall. Because cardiac biomarkers remained normal and dedicated inflammatory CMR sequences were not acquired, active myocarditis could not be confirmed. Guideline-directed therapy reduced NT-proBNP from 4154 to 828 pg/mL, although angiotensin receptor-neprilysin inhibitor therapy was limited by symptomatic hypotension. At 2 months, symptoms and daily activity tolerance improved, but LVEF remained 25%, QTc was 479 ms, and ventricular premature complexes persisted. Whole-exome sequencing identified heterozygous likely pathogenic variants in BAG3 (NM_004281.4:c.180 + 1G > T) and FLNC [NM_001458.5:c.761_779del, p.(Leu254Profs*14)]. The daughter carried the BAG3 variant, whereas both children were negative for FLNC. The proband reported heart-failure-related deaths in her father and younger brother during adulthood and in a nephew during childhood.\n\nConclusions: The findings support complex familial non-ischemic DCM with marked variable expressivity. Coexisting BAG3 and FLNC variants should be interpreted as hypothesis-generating rather than proof of dual-gene causality. The infection-associated acute decompensation, persistently normal cardiac injury biomarkers, non-ischemic LGE, and incomplete inflammatory CMR characterization favor cautious interpretation rather than a definitive diagnosis of myocarditis. Serial imaging, rhythm surveillance, individualized device-risk assessment, and follow-up of genotype-positive relatives are essential.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Cardiology, The Affiliated Hospital of Shandong University of Traditional Chinese Medicine"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 4,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Wang Lili"
    },
    {
      "affs": [
        0
      ],
      "name": "Wang Youcao"
    },
    {
      "affs": [
        0
      ],
      "name": "Yao Xiaodong"
    },
    {
      "affs": [
        0
      ],
      "name": "Wang Zhen"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/0wq41y2cfds2q.bib",
  "cited_by": 0,
  "doi": "10.3389/fcvm.2026.2000926",
  "fulltext_url": null,
  "id": "0wq41y2cfds2q",
  "issns": [
    "2297-055X"
  ],
  "landing_url": "https://www.frontiersin.org/articles/10.3389/fcvm.2026.2000926/full",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [],
  "openalex": null,
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-30",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/0wq41y2cfds2q.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:10Z",
      "native_id": "10.3389/fcvm.2026.2000926",
      "source": "crossref",
      "url": "https://www.frontiersin.org/articles/10.3389/fcvm.2026.2000926/full"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "issn:2297-055X",
      "subfield": "cardiovascular"
    }
  ],
  "title": "Familial severe non-ischemic dilated cardiomyopathy with coexisting likely pathogenic BAG3 and FLNC variants: a case report",
  "title_text": "Familial severe non-ischemic dilated cardiomyopathy with coexisting likely pathogenic BAG3 and FLNC variants: a case report",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T00:21:04Z",
  "url": "https://research.draconitic.com/paper/0wq41y2cfds2q",
  "venue": "Frontiers in Cardiovascular Medicine",
  "versions": []
}