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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Can Systemic Sarcoidosis and Genetic Cardiomyopathy Coexist?
    2
    2. ClingenBaseline 05 Nov 2026
      A 59-year-old male

      Case1: 59-year-old male

      DiseaseAssertion: frequent premature ventricular contractions

      FamilyInfo:Significant for dilated cardiomyopathy with multiple sudden cardiac deaths. His sister’s initial genetic testing panel was negative for pathogenic variants at that time

      ParentalTesting:NR

      CasePresentingHPOs: HP:0006682, HP:0025169, HP:0004751, HP:5210340

      CaseHPOFreeText: Transthoracic echocardiogram (TTE) demonstrated a left ventricular (LV) ejection fraction (EF) of 20%-25% and an LV diastolic diameter of 6.6 cm. revealed bulky mediastinal adenopathy. A transbronchial biopsy of lung parenchyma showed noncaseating granulomas, and ultimately the patient was found to have pulmonary sarcoidosis.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting:NR

      Genotyping Method: NR

      FunctionalAnalysis: NR

      Variant:NM_001458.5(FLNC):c.4737+5G>A

      ClinVar: 934656

      CAID: CA1139660256

      gnomAD: NR

      AdditionalInfo: NR

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:Other Zygosity:NoZygosityAssertion ClinVarID:934656 CAID:CA1139660256 Gene:FLNC HGNC:3756 inferred_gene_hgnc:3756 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC13420677/