19 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Subclinical Hypertrophic Cardiomyopathy in Elite Athletes: Knowledge Gaps Persist
    1
    1. ClingenBaseline 03 Nov 2026
      30-year-old c

      Case#: 30 year old female athlete

      DiseaseAssertion: Subclinical hypertrophic cardiomyopathy

      FamilyInfo: Her mother has HCM and the same ACTC1 gene change. Her grandmother and uncle on her mothers side died suddenly.

      ParentalTesting: Her mother tested positive for the ACTC1 gene change and there isn't any information about the father.

      CasePresentingHPOs: NR

      CaseHPOFreeText: The patient did not have dizziness, fainting, trouble breathing or chest pain. Her heart muscle was not thickened.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: The patient sometimes felt her heart beating unusually during exercise. A heart MRI showed small changes in her heart muscle and heart valve.

      CasePreviousTesting: The patient had an ECG, heart ultrasound, heart monitor and heart MRI

      Genotyping Method:Sanger sequencing was used to test the ACTC1 gene.

      FunctionalAnalysis: NR

      Variant: ACTC1 p.Val11Leu

      Clinvar: 2947021

      CAID: CA391633409

      gnomAD: NR

      AdditionalInfo: The patient continued playing competitive sports and had regular heart checkups.

      CaseInfo Gene:ACTC1 HGNC:143 InheritancePattern:AutosomalDominant DiseaseEntity:HCM Variant:Missense Zygosity:Heterozygous FamilyInfo ClinVarID:2947021 CAID:CA3916333409 inferred_gene_hgnc:143 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC8784716/
  3. Oct 2026
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Progressive Deterioration of the Right Ventricular Function in a Patient with Non-Obstructive HCM Complicated by Atrial Fibrillation: A Case Presentation
    1
    1. ClingenBaseline 28 Oct 2026
      53-year-old female patient

      Case#:53-year-old female

      DiseaseAssertion:non-obstructive HCM with progressive deterioration of right heart function

      FamilyInfo:mother has cardiac hypertrophy, the TNNI3 variant was also detected her sister and daughter

      CasePresentingHPOs:HP:0005110, HP:0012398, HP:0001962, HP:0031352, HP:0033118, HP:0011675

      CaseHPOFreeText:enlarged cardiac silhouette

      CaseNotHPOs:HP:0030829, HP:0030148

      CaseNotHPOFreeText: jugular venous distention

      CasePreviousTesting:Electrocardiogram, Echocardiograms

      Genotyping Method:next-generation sequencing (NGS)

      FunctionalAnalysis: Hybridized pathogenic variant in exon 7 of TNNI3 (table 1)

      Variant:NM_000363.4:c.470C>T(p.Ala157Val)

      ClinVar:43388

      CAID:CA021720

      gnomAD:chr19-55154109-G-A

      Gene:ACTC1 HGNC:11947 DiseaseEntity:HCM InheritancePattern:AutosomalDominant ClinVarID:43388 CAID:CA021720 FamilyInfo inferred_gene_hgnc:11947 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC12254914/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
    16
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    pmc.ncbi.nlm.nih.gov/articles/PMC5412645/
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10029015/