Instituto do Coração, University of São Paulo, São Paulo, Brazil.
J Card Fail. 2012 Jul;18(7):564-8. doi: 10.1016/j.cardfail.2012.04.005. Epub 2012 May 19.
Clinical multistage risk assessment associated with electrocardiogram (ECG) and NT-proBNP may be a feasible strategy to screen hypertrophic cardiomyopathy (HCM). We investigated the effectiveness of a screening based on ECG and NT-proBNP in first-degree relatives of patients with HCM.
A total of 106 first-degree relatives were included. All individuals were evaluated by echocardiography, ECG, NT-proBNP, and molecular screening (available for 65 individuals). From the 106 individuals, 36 (34%) had diagnosis confirmed by echocardiography. Using echocardiography as the gold standard, ECG criteria had a sensitivity of 0.71, 0.42, and 0.52 for the Romhilt-Estes, Sokolow-Lyon, and Cornell criteria, respectively. Mean values of NT-ProBNP were higher in affected as compared with nonaffected relatives (26.1 vs. 1290.5, P < .001). The AUC of NT-proBNP was 0.98. Using a cutoff value of 70 pg/mL, we observed a sensitivity of 0.92 and specificity of 0.96. Using molecular genetics as the gold standard, ECG criteria had a sensitivity of 0.67, 0.37, and 0.42 for the Romhilt-Estes, Sokolow-Lyon, and Cornell criteria, respectively. Using a cutoff value of 70 pg/mL, we observed a sensitivity of 0.83 and specificity of 0.98.
Values of NT-proBNP above 70 pg/mL can be used to effectively select high-risk first-degree relatives for HCM screening.
与心电图（ECG）和 NT-proBNP 相关的临床多阶段风险评估可能是筛查肥厚型心肌病（HCM）的一种可行策略。我们研究了基于 ECG 和 NT-proBNP 的筛查在 HCM 患者一级亲属中的有效性。
共纳入 106 名一级亲属。所有个体均接受超声心动图、心电图、NT-proBNP 和分子筛查（适用于 65 名个体）评估。在 106 名个体中，36 名（34%）通过超声心动图确诊。使用超声心动图作为金标准，心电图标准对 Romhilt-Estes、Sokolow-Lyon 和 Cornell 标准的敏感性分别为 0.71、0.42 和 0.52。与无病变亲属相比，病变亲属的 NT-ProBNP 平均值更高（26.1 比 1290.5，P <.001）。NT-ProBNP 的 AUC 为 0.98。使用 70pg/mL 的截断值，我们观察到敏感性为 0.92，特异性为 0.96。使用分子遗传学作为金标准，心电图标准对 Romhilt-Estes、Sokolow-Lyon 和 Cornell 标准的敏感性分别为 0.67、0.37 和 0.42。使用 70pg/mL 的截断值，我们观察到敏感性为 0.83，特异性为 0.98。
NT-proBNP 值高于 70pg/mL 可用于有效选择 HCM 筛查的高危一级亲属。
