Nantes Université, CHU Nantes, INSERM, Cardiology Department, CIC 1413, l'Institut du Thorax, Nantes, France.
Nantes Université, CHU Nantes, Radiology Department, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, Nantes, France.
J Am Soc Echocardiogr. 2024 Oct;37(10):960-970. doi: 10.1016/j.echo.2024.05.017. Epub 2024 May 31.
Arrhythmogenic left ventricular cardiomyopathy (ALVC) is characterized by fibrofatty myocardial replacement demonstrated on cardiac magnetic resonance by late gadolinium enhancement (LGE) mainly involving the subepicardium. The aims of this study were to describe the layer-specific strain (LSS) echocardiography phenotype of ALVC and to compare it with LGE features.
All consecutive ALVC pathogenic genetic variant carriers and noncarrier relatives were separated into four prespecified groups (overt ALVC [group 1], isolated LGE [group 2], pathogenic genetic variant carrier without ALVC phenotype [group 3], and no genetic variant carrier [group 4]) and studied accordingly using cardiac magnetic resonance and LSS echocardiography.
Eighty-five individuals were included. Endocardial global longitudinal strain (GLS)-epicardial GLS (GLSepi) gradient was altered predominantly in group 1, illustrating transmural strain alteration in overt ALVC (3.8 ± 1.1 in group 1, 4.3 ± 2.2 in group 2, 5.2 ± 1.2 in group 3, and 5.4 ± 1.6 in group 4; P = .0017), whereas GLSepi was impaired predominantly in group 2 (endocardial GLS and GLSepi were 15.0 ± 4.1% and 11.2 ± 3.3%, respectively, in group 1; 20.5 ± 2.8% and 16.2 ± 5.5% in group 2; 23.4 ± 3.3% and 18.2 ± 2.7% in group 3; and 24.6 ± 2.8% and 19.2 ± 1.9% in group 4; P < .0001 for all). GLSepi was able to detect subepicardial LGE in genetic variant carriers without overt ALVC with an area under curve of 0.84 (95% CI, 0.73-0.95). However, segmental epicardial and endocardial strain behaved similarly and showed comparable diagnostic values for segmental LGE detection (areas under the curve, 0.72; [95% CI, 0.69-0.76] and 0.73 [95% CI, 0.70-0.76], respectively, P = .40).
LSS alteration in ALVC progresses from the epicardium to the endocardium along with disease severity. Irrespective of LSS analysis, which did not provide incremental diagnostic value for the detection and localization of LGE, strain echocardiography was shown to be a potential surrogate marker of LGE, including in apparently healthy individuals with isolated LV fibrosis.
致心律失常性左心室心肌病（ALVC）的特征是心脏磁共振上通过延迟钆增强（LGE）显示纤维脂肪性心肌替代物，主要累及心外膜下。本研究的目的是描述 ALVC 的层特异性应变（LSS）超声心动图表型，并将其与 LGE 特征进行比较。
所有连续的 ALVC 致病性基因突变携带者和非携带者亲属被分为四个预设组（显性 ALVC[组 1]、孤立性 LGE[组 2]、无 ALVC 表型的致病性基因突变携带者[组 3]和无基因突变携带者[组 4]），并使用心脏磁共振和 LSS 超声心动图进行相应研究。
共纳入 85 名个体。心内膜整体纵向应变（GLS）-心外膜 GLS（GLSepi）梯度主要在组 1 中发生改变，表明显性 ALVC 存在跨壁应变改变（组 1 中为 3.8±1.1，组 2 中为 4.3±2.2，组 3 中为 5.2±1.2，组 4 中为 5.4±1.6；P=0.0017），而 GLSepi 主要在组 2 中受损（心内膜 GLS 和 GLSepi 分别为 15.0±4.1%和 11.2±3.3%，在组 1 中；20.5±2.8%和 16.2±5.5%在组 2 中；23.4±3.3%和 18.2±2.7%在组 3 中；在组 4 中为 24.6±2.8%和 19.2±1.9%；所有 P 值均<.0001）。GLSepi 能够检测到无显性 ALVC 的基因突变携带者的心外膜下 LGE，曲线下面积为 0.84（95%置信区间，0.73-0.95）。然而，节段性心外膜和心内膜应变表现相似，对节段性 LGE 检测具有相似的诊断价值（曲线下面积分别为 0.72[95%置信区间，0.69-0.76]和 0.73[95%置信区间，0.70-0.76]，P=0.40）。
ALVC 中的 LSS 改变从心外膜向心内膜发展，与疾病严重程度相关。无论是否进行 LSS 分析，它都没有为 LGE 的检测和定位提供额外的诊断价值，但超声心动图显示应变可能是 LGE 的潜在替代标志物，包括在孤立性 LV 纤维化的看似健康个体中。
