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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A case report in hypertrophic cardiomyopathy in a recreational athlete: multimodality risk assessment, genetic insights, and shared decision-making
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    pmc.ncbi.nlm.nih.gov/articles/PMC12810418/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Left-Dominant Arrhythmogenic Cardiomyopathy in a Young Athlete: Silent Danger on the Pitch
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    pmc.ncbi.nlm.nih.gov/articles/PMC13379856/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
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    1. ClingenBaseline 24 Oct 2026
      65‐year‐old male

      Case1: Male, 65, Chinese DiseaseAssertion: Non‐obstructive HCM, heart failure, and atrial fibrillation FamilyInfo:Family history of HCM and sudden cardiac death CasePresentingHPOs: HP:0031295, HP:0001685, HP:0001712, HP:0012664, HP:0025169, HP:0005110, HP:0001658, HP:0001635 CaseHPOFreeText: Presented with stenosis in the circumflex artery and has a history of non‐obstructive HCM, heart failure NYHA class III, AF, myocardial infarction, and coronary atherosclerosis CasePreviousTesting: Exercise stress echocardiography test, transthoracic echocardiography, electrocardiogram, cardiovascular magnetic resonance (CMR), computerized tomography coronary angiogram, and peripheral blood draw Genotyping Method: Genomic DNA for whole-exome sequencing (WES) by NovaSeq 6000 platform from the peripheral blood draw of proband. FunctionalAnalysis:C to T transition at nucleotide 1522 in coding exon 16 of MYBPC3 replaces the glutamine residue with a premature translational stop signal (p.Gln508Ter) Variant: NM_000256.3:c.1522C>T MANE Select <br /> ClinVar:180941

      Gene:MYBPC3 HGNCID:7551 InheritancePattern:AutosomalDominant DiseaseEntity:HCM Variant:Nonsense Zygosity:Heterozygous ClinVarID:180941 FamilyInfo FunctionalAnalysis inferred_gene_hgnc:7551 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC10375074/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional Characterization of TNNC1 Rare Variants Identified in Dilated Cardiomyopathy
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    pmc.ncbi.nlm.nih.gov/articles/PMC3190822/