1 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Can Systemic Sarcoidosis and Genetic Cardiomyopathy Coexist?
    1
    1. ClingenBaseline 05 Nov 2026
      A 39-year-old man

      Case3: 39-year-old man

      DiseaseAssertion: seronegative rheumatoid arthritis

      FamilyInfo: Father was diagnosed with hypertrophic cardiomyopathy

      ParentalTesting: Genetic testing revealed a pathogenic MYBPC3 variant in the patient and his father (c.655G>C [p.Val219Leu])

      CasePresentingHPOs: HP:5210340, HP:0006682, HP:0031971

      CaseHPOFreeText: Rccentric septal hypertrophy with a maximal wall thickness of 1.7 cm, no evidence of outflow tract obstruction, and an LV EF of 65% to 70%. Rare premature ventricular complexes. Mild mediastinal lymphadenopathy, pulmonary sarcoidosis

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: NR

      FunctionalAnalysis: NR

      Variant: NM_006252.4(PRKAA2):c.148_151del (p.Gln50fs)

      ClinVar:4891957

      CAID:NR

      gnomAD:NR

      AdditionalInfo:NR

      Gene:MYBPC3 HGNC:7551 InheritancePattern:NoInheritanceAssertion DiseaseEntity:HCM Variant:Frameshift Zygosity:NoZygosityAssertion ClinVarID:4891957 FamilyInfo inferred_gene_hgnc:7551 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC13420677/