Militaru Sebastian, Jurcuț Ruxandra, Adam Robert, Roşca Monica, Ginghina Carmen, Popescu Bogdan A
Department of Cardiology, Expert Center for Rare Genetic Cardiovascular Diseases, Emergency Institute of Cardiovascular Diseases "Prof. Dr. C. C. Iliescu", Bucharest, Romania.
University of Medicine and Pharmacy "Carol Davila" - Euroecolab, Bucharest, Romania.
Echocardiography. 2019 Nov;36(11):2041-2049. doi: 10.1111/echo.14508. Epub 2019 Oct 29.
The concept of "red flags" has been particularly useful in the etiologic diagnosis of cardiomyopathies such as Fabry disease, as early detection is often essential for treatment response and outcomes. The present study sought to describe the echocardiographic features that may differentiate Fabry cardiomyopathy from sarcomeric hypertrophic cardiomyopathy (HCM).
Forty patients with left ventricular (LV) hypertrophy were prospectively included and divided into two groups: the Fabry group (20) and the sarcomeric HCM group (20). The two groups were matched for LV hypertrophy (similar maximum wall thickness and indexed LV mass) and age. All patients underwent full echocardiographic evaluation including ventricular strain analysis.
The Fabry group had significantly lower LV ejection fraction (63 ± 7 vs 72 ± 7%, P = .001) and higher LV end-systolic diameter (28 ± 7 vs 22 ± 5 mm, P = .004). LV hypertrophy in Fabry patients was more often concentric, with a significantly lower interventricular septum/posterior wall ratio (1.22 ± 0.63 vs 1.55 ± 0.66, P = .001). Fabry patients had more reduced regional longitudinal strain in the inferolateral part of the LV (-9 ± 5 vs -16 ± 7%), and RV free wall longitudinal strain was also worse in Fabry patients (-23 ± 6 vs -28 ± 5%, P = .027).
These parameters are promising echocardiographic features to identify patients with Fabry cardiomyopathy and may help for the detection and subsequent management of these patients.
“红旗征”概念在法布里病等心肌病的病因诊断中特别有用，因为早期检测对治疗反应和结果往往至关重要。本研究旨在描述可将法布里心肌病与肌节性肥厚型心肌病（HCM）区分开来的超声心动图特征。
前瞻性纳入40例左心室（LV）肥厚患者，分为两组：法布里组（20例）和肌节性HCM组（20例）。两组在LV肥厚（相似的最大壁厚和LV质量指数）和年龄方面相匹配。所有患者均接受了包括心室应变分析在内的全面超声心动图评估。
法布里组的LV射血分数显著更低（63±7%对72±7%，P = .001），LV收缩末期直径更高（28±7 mm对22±5 mm，P = .004）。法布里病患者的LV肥厚更常为同心性，室间隔/后壁比值显著更低（1.22±0.63对1.55±0.66，P = .001）。法布里病患者LV下外侧部分的区域纵向应变降低更多（-9±5%对-16±7%），法布里病患者的右心室游离壁纵向应变也更差（-23±6%对-28±5%，P = .027）。
这些参数是识别法布里心肌病患者的有前景的超声心动图特征，可能有助于这些患者的检测及后续管理。
