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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death
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    1. ClingenBaseline 09 Nov 2026
      63-year-old male

      Case1: 63-year-old male

      DiseaseAssertion: Atrial flutter(54), VT & ICD(57); CVA(58) & DCM(58); HF(59)

      FamilyInfo: There are 14 affected family members (Fig 1): six living (three sisters III-1, III-4, III-6 and three nieces IV-5, IV-15, IV-16) and eight deceased individuals (I-3, II-8, II-13, III-8, III-10, IV-1, IV-4, IV-6).

      ParentalTesting:

      CasePresentingHPOs:

      CaseHPOFreeText: atrial flutter during evaluation for non-cardiac surgery. Subsequent evaluations led to the diagnosis of SSS. At 54 years old, echocardiogram showed mild systolic dysfunction and left ventricle dilation (EF 45%, LVEDD 58 mm). Myocardial perfusion study showed exercise intolerance but no signs of ischemia. At presentation, he felt well noting mild exercise intolerance for the past year with no palpitations or chest pain; he took no medications. At age 49, he had normal systolic function and LV dilation by echocardiogram (EF 53%, LVEDD 61 mm) and a normal myocardial perfusion study.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis: NR

      Variant: NM_170707.4(LMNA):c.357-2A>G

      ClinVar: 652066

      CAID: CA342814936

      gnomAD: NR

      AdditionalInfo:

      DiseaseEntity:DCM Gene:LMNA HGNC:6636 InheritancePattern:AutosomalDominant Variant:Missense Zygosity:Heterozygous ClinVarID:652066 CAID:CA342814936 FamilyInfo inferred_gene_hgnc:6636 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4868298/