Nakagawa Shoko, Amano Masashi, Tamai Yurie, Mizumoto Ayaka, Kurashima Shinichi, Irie Yuki, Moriuchi Kenji, Sakamoto Takahiro, Amaki Makoto, Kanzaki Hideaki, Morita Yoshiaki, Kitai Takeshi, Izumi Chisato
Department of Heart Failure and Transplantation, National Cerebral and Cardiovascular Center Osaka Japan.
Department of Cardiology, Tenri Hospital Nara Japan.
Circ Rep. 2024 Sep 26;6(10):456-464. doi: 10.1253/circrep.CR-24-0068. eCollection 2024 Oct 10.
Non-invasive diagnosis of disease stage in Fabry cardiomyopathy with multimodality imaging is pivotal when deciding on the appropriate time to initiate enzyme replacement therapy. However, this approach has not been well established.
We enrolled 14 patients with Fabry disease. All patients were evaluated using echocardiography and contrast cardiac magnetic resonance (CMR), and were divided into either an early-stage group without left ventricular hypertrophy (LVH; wall thickness >12 mm) or late gadolinium enhancement (LGE; n=7; median age 37 years; 4 female), or an advanced-stage group with LVH and/or LGE (n=7; median age 66 years; 7 female). Strain data from echocardiography and T1 mapping on CMR were compared between the groups. In the advanced-stage group, all strain data were impaired. In the early-stage group, localized longitudinal strain in the basal posterolateral segment was already reduced but both localized and global circumferential strain remained preserved. On CMR analysis, global and localized native T1 shortening were observed in the early-stage group, but were pseudo-normalized in the advanced-stage group. In logistic regression analysis, localized circumferential strain had significant diagnostic value for differentiating between early- and advanced stage (P=0.037) and significantly improved the predictive power of the model containing localized native T1 in CMR.
A combination of localized native T1 in CMR and echocardiographic strain parameters could be useful for staging Fabry cardiomyopathy.
在法布里心肌病中，采用多模态成像进行疾病分期的无创诊断对于决定开始酶替代治疗的合适时机至关重要。然而，这种方法尚未得到充分确立。
我们纳入了14例法布里病患者。所有患者均接受了超声心动图和心脏磁共振成像（CMR）检查，并被分为早期组（无左心室肥厚（LVH；壁厚>12mm）或晚期钆增强（LGE）；n = 7；中位年龄37岁；4名女性）或晚期组（有LVH和/或LGE；n = 7；中位年龄66岁；7名女性）。比较了两组之间超声心动图的应变数据和CMR上的T1映射。在晚期组中，所有应变数据均受损。在早期组中，基底后外侧节段的局部纵向应变已经降低，但局部和整体圆周应变仍保持正常。在CMR分析中，早期组观察到整体和局部固有T1缩短，但在晚期组中呈假性正常化。在逻辑回归分析中，局部圆周应变对于区分早期和晚期具有显著的诊断价值（P = 0.037），并显著提高了包含CMR中局部固有T1的模型的预测能力。
CMR中的局部固有T1和超声心动图应变参数的组合可能有助于法布里心肌病的分期。
