A Validation Study of the Mayo Clinic Phenotype-Based Genetic Test Prediction Score for Japanese Patients With Hypertrophic Cardiomyopathy

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  • Moriki Toshihiro
    Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University
  • Kubo Toru
    Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University
  • Sugiura Kenta
    Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University
  • Ochi Yuri
    Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University
  • Baba Yuichi
    Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University
  • Hirota Takayoshi
    Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University
  • Yamasaki Naohito
    Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University
  • Kimura Akinori
    Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University
  • Doi Yoshinori L.
    Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University
  • Kitaoka Hiroaki
    Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University

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<p>Background:Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal-dominant disorder mainly caused by mutations in sarcomere genes. Recently, a phenotype-based genetic test prediction score for patients with HCM was introduced by Mayo Clinic. The genotype score was derived on the basis of the predictive effect of 6 clinical markers, and the total score was shown to be correlated with the yield of genetic testing. However, it has not been determined whether this prediction model is useful in Japanese HCM patients.</p><p>Methods and Results:The utility of the Mayo Clinic HCM genotype predictor score in 209 Japanese unrelated patients with a clinical diagnosis of HCM who had undergone genetic testing for 6 sarcomere genes was assessed. Overall, 55 patients (26%) had pathogenic or likely pathogenic variants (60% being genotype-positive in familial cases). We divided the patients into 6 groups (groups with scores of from −1 to 5) according to the prediction score. The yields of genetic testing in the groups with scores of −1, 0, 1, 2, 3, 4, and 5 were 8%, 16%, 24%, 48%, 50%, 100%, and 89%, respectively, with an incremental increase in yield between each of the score subgroups (P<0.001).</p><p>Conclusions:The Mayo Clinic HCM genotype predictor score is useful for predicting a positive genetic test result in Japanese HCM Patients.</p>

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  • Circulation Journal

    Circulation Journal 85 (5), 669-674, 2021-04-23

    一般社団法人 日本循環器学会

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