OBJECTIVES This study sought to investigate the prevalence of systolic dysfunction using global longitudinal strain (GLS) and its prognostic value in relatives of dilated cardiomyopathy (DCM) patients that had normal left ventricular ejection fraction (LVEF). BACKGROUND DCM relatives are advised to undergo cardiac assessment including echocardiography, irrespective of the genetic status of the index patient. Even though LVEF is normal, the question remains whether this indicates absence of disease or simply normal cardiac volumes. GLS may provide additional information regarding (sub)clinical cardiac abnormalities and thus allow earlier disease detection. METHODS A total of 251 DCM relatives and 251 control subjects with a normal LVEF (≥55%) were screened. Automated software measured the GLS on echocardiographic 2-, 3-, and 4-chamber views. The cutoff value for abnormal strain was >-21.5. Median follow-up was 40 months (interquartile range: 5 to 80 months). Primary outcome was the combination of death and cardiac hospitalization. RESULTS A total of 120 relatives and 83 control subjects showed abnormal GLS (48% vs. 33%, respectively; p < 0.001). Abnormal GLS was independently associated with DCM relatives and cardiovascular risk factors, rather than genetic mutations. Subjects with abnormal GLS had more frequent cardiac hospitalizations and a higher mortality as compared with subjects with normal GLS (hazard ratio: 3.29; 95% confidence interval: 1.58 to 6.87; p = 0.001). Additionally, follow-up LVEF was measured in a subset of relatives, and it decreased significantly in those with abnormal as compared with normal GLS (p = 0.006). CONCLUSIONS Relatives of DCM patients had a significantly higher prevalence of systolic dysfunction detected by GLS despite normal LVEF compared with control subjects, independent of age, sex, comorbidities, and genotype. Abnormal GLS was associated with LVEF deterioration, cardiac hospitalization, and death.

中文翻译：

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基于斑点追踪的变形分析在无症状扩张型心肌病患者亲属筛查中的价值。

目的本研究旨在探讨在患有左心室射血分数（LVEF）正常的扩张型心肌病（DCM）患者的亲属中，采用整体纵向应变（GLS）来研究其收缩功能障碍的患病率及其预后价值。背景技术建议DCM亲属进行心脏评估，包括超声心动图检查，而不管索引患者的遗传状况如何。即使LVEF正常，问题仍然存在，这是否表明没有疾病或仅仅是正常的心脏容量。GLS可以提供​​有关（亚）临床心脏异常的其他信息，因此可以更早地发现疾病。方法筛选了251名DCM亲属和251名LVEF正常（≥55％）的对照组。自动化软件在超声心动图2腔，3腔和4腔视图上测量了GLS。异常应变的临界值> -21.5。中位随访时间为40个月（四分位间距：5到80个月）。主要结局是死亡和心脏住院治疗的结合。结果共有120名亲属和83名对照组受试者显示GLS异常（分别为48％和33％； p <0.001）。GLS异常与DCM亲戚和心血管危险因素独立相关，而不是与基因突变相关。与正常GLS的受试者相比，异常GLS的受试者的心脏住院治疗频率更高，死亡率更高（危险比：3.29； 95％置信区间：1.58至6.87； p = 0.001）。此外，对LVEF进行了一系列亲属测量，与正常GLS相比，异常LVEF明显降低（p = 0.006）。结论尽管左室射血分数（LVEF）正常，但与年龄，性别，合并症和基因型无关，尽管左室射血分数（LVEF）正常，但通过GLS检测的DCM患者的亲属的收缩功能障碍患病率明显高于对照组。GLS异常与LVEF恶化，心脏住院和死亡有关。