Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt- Universität zu Berlin, Campus Mitte, Medizinische Klinik mit Schwerpunkt Kardiologie und Angiologie, Berlin, Germany.
DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.
Echocardiography. 2021 Nov;38(11):1870-1878. doi: 10.1111/echo.15224. Epub 2021 Oct 21.
BACKGROUND: "Classical" echocardiographic signs of Fabry cardiomyopathy (FC), such as left ventricular hypertrophy (LVH), posterolateral strain impairment (PLSI), and papillary muscle hypertrophy may be of limited diagnostic accuracy in clinical practice. Our aim was to evaluate the diagnostic value of left atrial (LA) strain impairment compared to "classical" echocardiographic findings to discriminate FC. METHODS: In standard echocardiographic assessments, we retrospectively analyzed the diagnostic value of the "classical" red flags of FC as well as LA strain in 20 FC patients and in 20 subjects with other causes of LVH. Receiver operating characteristic (ROC) curve analysis was performed to assess the respective diagnostic accuracy. RESULTS: FC was confirmed in 20 patients by genetic testing. In the LVH group, 12 patients were classified by biopsy to have hypertrophic cardiomyopathy, two had hypertensive heart disease, and six LVH combined with borderline myocarditis. Global and regional left ventricular (LV) strain was not significantly different between groups while LA strain was significantly impaired in FC (Left atrial reservoir strain (LASr) 19.1%±8.4 in FC and 25.6%±8.9 in LVH, p = 0.009; left atrial conduction strain (LAScd) -8.4%±4.9 in FC and -15.9%±8.4 in LVH, p < 0.01). LAScd, with an area under the curve (AUC) of .81 (95% confidence interval [CI] .66-.96) showed the highest diagnostic accuracy to discriminate FC. The PLSI pattern showed an AUC of .49, quantification of papillary muscle hypertrophy an AUC of .47. CONCLUSION: Adding LA strain analysis to a comprehensive echocardiographic work-up of unclear LVH may be helpful to identify FC as a possible cause.
背景：法布瑞氏心肌病（FC）的“经典”超声心动图征象，如左心室肥厚（LVH）、后外侧节段应变异常（PLSI）和乳头肌肥厚，在临床实践中的诊断准确性可能有限。我们的目的是评估左心房（LA）应变异常与“经典”超声心动图表现相比，对 FC 的诊断价值。
方法：在标准超声心动图评估中，我们回顾性分析了 20 例 FC 患者和 20 例其他原因导致 LVH 的患者的“经典”FC 红旗征象和 LA 应变的诊断价值。进行了受试者工作特征（ROC）曲线分析以评估各自的诊断准确性。
结果：通过基因检测在 20 例患者中证实了 FC。在 LVH 组中，12 例患者经活检诊断为肥厚型心肌病，2 例为高血压性心脏病，6 例为 LVH 合并边缘性心肌炎。各组之间整体和局部左心室（LV）应变无显著差异，而 FC 患者的 LA 应变明显受损（左心房储备应变（LASr）在 FC 中为 19.1%±8.4%，在 LVH 中为 25.6%±8.9%，p=0.009；左心房传导应变（LAScd）在 FC 中为-8.4%±4.9%，在 LVH 中为-15.9%±8.4%，p<0.01）。LAScd 的曲线下面积（AUC）为.81（95%置信区间 [CI].66-.96），具有最高的诊断准确性，可区分 FC。PLSI 模式的 AUC 为.49，乳头肌肥厚的定量分析的 AUC 为.47。
结论：在不明原因 LVH 的综合超声心动图评估中增加 LA 应变分析可能有助于识别 FC 作为可能的病因。
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