Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing
Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing
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DOI：
10.1253/circj.cj-17-1012
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发表时间：
2018-04-01
影响因子：
3.3
通讯作者：
Kawashiri, Masa-aki
中科院分区：
文献类型：
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作者：
Teramoto, Ryota;Fujino, Noboru;Kawashiri, Masa-aki
背景：心脏磁共振（CMR）与晚期钆增强（LGE）显示心肌疤痕程度存在显着差异，心肌疤痕是肥厚型心肌病（HCM）的病理标志。然而，关于基因突变的存在与 LGE 程度之间关系的数据很少。因此，我们的目的是研究 HCM 患者中 LGE 程度的变化是否可以通过是否存在致病突变来解释。方法和结果：我们分析了 82 名不相关的 HCM 患者的数据，这些患者接受了 LGE-CMR 和下一代测序。我们在 44 例 (54%) 病例中发现了引起疾病的肌节基因突变。 CMR 上的 LGE 程度是预测突变阳性 HCM 的独立因素（比值比 2.12 [95% 置信区间 1.51-3.83]，P 8.1%）分别为 93.2%、89.5%、91.1% 和 91.9%。 结论：结果表明，在临床受影响的患者中，% LGE 可以清楚地区分突变阳性和突变阴性 HCM。 HCM 人群。很少或没有心肌疤痕的 HCM 可能与心肌疤痕发生率较高的 HCM 在遗传上有所不同。
Background: Cardiac magnetic resonance (CMR) with late gadolinium enhancement (LGE) revealed a substantial variation in the extent of myocardial scarring, a pathological hallmark of hypertrophic cardiomyopathy (HCM). However, few data exist regarding the relationship between the presence of gene mutations and the extent of LGE. Therefore, we aimed to investigate whether variations in the extent of LGE in HCM patients can be explained by the presence or absence of disease-causing mutations.Methods and Results: We analyzed data from 82 unrelated HCM patients who underwent both LGE-CMR and next-generation sequencing. We identified disease-causing sarcomere gene mutations in 44 cases (54%). The extent of LGE on CMR was an independent factor for predicting mutation-positive HCM (odds ratio 2.12 [95% confidence interval 1.51-3.83], P 8.1%) were 93.2%, 89.5%, 91.1%, and 91.9%, respectively.Conclusions: The results demonstrated that % LGE clearly discriminated mutation-positive from mutation-negative HCM in a clinically affected HCM population. HCM with few or no myocardial scars may be genetically different from HCM with a higher incidence of myocardial scars.