Ferreira Felix Iuri, Karlinski Vizentin Vanessa, Alzate-Aguirre Mateo, Patel Mehrie, Geske Jeffrey B, Araoz Phillip, Giudicessi John R, Ommen Steve R, Arruda-Olson Adelaide M, Ackerman Michael J, Bos J Martijn
Department of Medicine, Mayo Clinic, Rochester, MN, USA.
Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
J Cardiovasc Transl Res. 2025 Jul 23. doi: 10.1007/s12265-025-10667-2.
This study aimed to evaluate the role of cardiac magnetic resonance (CMR) in updating The Mayo Clinic Hypertrophic Cardiomyopathy (HCM) Genotype Predictor Score. We performed an analysis of 175 HCM patients with an echocardiogram, CMR, and genetic test at the Mayo Clinic (2004 to 2018). Yield of a positive genetic test for the original echocardiogram-based score ranged from 38% (-1 point) to 100% (4 or 5 points), with an AUC of 0.659. Late gadolinium enhancement (LGE) presence was a strong predictor of positive genetic test (p = 0.002) and was added to the original score to create the updated version. The yield of positive genetic test for the updated score ranged from 25% (-1 point) to 100% (5 or 6 points) (p < 0.001), with an AUC of 0.724 and significant increase in diagnostic accuracy (p = 0.03). The updated genotype predictor score had improved accuracy when compared to the prior version.
本研究旨在评估心脏磁共振成像（CMR）在更新梅奥诊所肥厚型心肌病（HCM）基因型预测评分中的作用。我们对梅奥诊所（2004年至2018年）175例接受了超声心动图、CMR和基因检测的HCM患者进行了分析。基于原始超声心动图评分的基因检测阳性率为38%（-1分）至100%（4或5分），曲线下面积（AUC）为0.659。钆延迟强化（LGE）的存在是基因检测阳性的有力预测指标（p = 0.002），并被添加到原始评分中以创建更新版本。更新后评分的基因检测阳性率为25%（-1分）至100%（5或6分）（p < 0.001），AUC为0.724，诊断准确性显著提高（p = 0.03）。与先前版本相比，更新后的基因型预测评分准确性有所提高。
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