BackgroundMyocardial strain can identify subclinical left ventricular dysfunction in various cardiac diseases, but its association with clinical outcomes in genetic cardiomyopathies remains unknown. Herein, we assessed myocardial strain in patients with Danon disease (DD), a rare X‐linked autophagic disorder that causes severe cardiac manifestations.Methods and ResultsEchocardiographic images were reviewed and used to calculate myocardial strain from a retrospective, international registry of patients with DD. Regression analyses were performed to evaluate for an association of global longitudinal strain (GLS) and ejection fraction with the composite outcome (death, ventricular assist device, heart transplantation, and implantable cardioverter defibrillator for secondary prevention). A total of 22 patients with DD (male 14 [63.6%], median age 16.5 years) had sufficient echocardiograms for analysis. Absolute GLS was reduced with a mean of 12.2% with an apical‐sparing pattern observed. Univariable regression for GLS and composite outcome showed an odds ratio of 1.32 (95% CI, 1.02–1.71) with P=0.03. For receiver operating characteristic analysis, the areas under the curve for GLS and ejection fraction were 0.810 (P=0.02) and 0.605 (P=0.44), respectively. An absolute GLS cutoff of 10.0% yielded a true positive rate of 85.7% and false positive rate of 13.3%.ConclusionsIn this cohort of patients with DD, GLS may be a useful assessment of myocardial function and may predict clinical outcomes. This study highlights the potential use of myocardial strain phenotyping to monitor disease progression and potentially to predict clinical outcomes in DD and other genetic cardiomyopathies.

中文翻译：

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心肌应变和与达农病临床结果的关联：监测遗传性心肌病进展的模型

背景心肌应变可以识别各种心脏病中的亚临床左心室功能障碍，但其与遗传性心肌病临床结果的关联仍然未知。在此，我们评估了 Danon 病 (DD) 患者的心肌应变，这是一种罕见的 X 连锁自噬性疾病，可导致严重的心脏表现。方法和结果回顾性超声心动图图像并用于计算来自 DD 患者的回顾性国际登记处的心肌应变. 进行回归分析以评估整体纵向应变 (GLS) 和射血分数与复合结局（死亡、心室辅助装置、心脏移植和用于二级预防的植入式心律转复除颤器）的关联。共有 22 名 DD 患者（男性 14 [63.6%]，中位年龄 16。5 年）有足够的超声心动图进行分析。绝对 GLS 平均降低 12.2%，观察到顶端保留模式。GLS 和复合结果的单变量回归显示优势比为 1.32（95% CI，1.02-1.71），P = 0.03。对于接受者操作特征分析，GLS和射血分数的曲线下面积分别为0.810（P =0.02）和0.605（P =0.44）。10.0% 的绝对 GLS 临界值产生 85.7% 的真阳性率和 13.3% 的假阳性率。结论 在这组 DD 患者中，GLS 可能是对心肌功能的有用评估，并可能预测临床结果。本研究强调了心肌应变表型在监测疾病进展和预测 DD 和其他遗传性心肌病临床结果方面的潜在用途。