Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University.
Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University.
Circ J. 2021 Apr 23;85(5):669-674. doi: 10.1253/circj.CJ-20-0826. Epub 2021 Jan 23.
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.
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).
The Mayo Clinic HCM genotype predictor score is useful for predicting a positive genetic test result in Japanese HCM Patients.
肥厚型心肌病（HCM）是一种主要由肌节基因突变引起的常染色体显性遗传原发性心肌疾病。最近，梅奥诊所引入了一种基于表型的 HCM 患者遗传检测预测评分。基因型评分基于 6 个临床标志物的预测效果得出，总评分与遗传检测的检出率相关。然而，该预测模型在日本 HCM 患者中是否有用尚未确定。
评估了 209 例日本无亲缘关系的临床诊断为 HCM 并接受 6 个肌节基因遗传检测的患者中梅奥诊所 HCM 基因型预测评分的效用。总体而言，55 例患者（26%）存在致病性或可能致病性变异（家族病例中 60%为基因型阳性）。我们根据预测评分将患者分为 6 组（评分从-1 到 5）。评分分别为-1、0、1、2、3、4 和 5 的组的基因检测阳性率分别为 8%、16%、24%、48%、50%、100%和 89%，每组之间的阳性率呈递增趋势（P<0.001）。
梅奥诊所 HCM 基因型预测评分可用于预测日本 HCM 患者的阳性基因检测结果。
