Department of Interventional Cardiology and Angiology, Institute of Cardiology, Warsaw, Poland.
Kardiol Pol. 2010 Aug;68(8):929-34.
Fabry's disease (FD) is a rare hereditary disorder caused by the loss of alpha galactosidase A activity leading to accumulation of glycosphingolipids in various organs including hypertrophy of the heart. Most reports on cardiac involvement in FD focus on the left ventricular hypertrophy (LVH) and its relation to diastolic function. However, recent studies demonstrated large subset of patients with FD and right ventricle (RV) hypertophy. The accurate depiction of RV volumes, function and mass is possible with cardiovascular magnetic resonance (CMR). The CMR study can be also used to identify typically localised regions of intramyocardial fibrosis (infero-lateral segments of the LV), which have been shown to be a marker of inefficacious response to enzyme replacement therapy. We present series of 8 patients with genetically confirmed FD who underwent CMR study. We demonstrated a typical concentric and diffuse pattern of LVH with RV involvement in patients with the most severe LVH without significant impact on RV function and volumes. We showed that myocardial fibrosis can be observed not only in LV but also in RV. In 2 patients FD coexisted with symptomatic coronary artery disease with evidence of subendocardial myocardial fibrosis typical for ischaemic origin in one patient. The CMR confirmation of the presence of FD in one patient at an early stage of the disease, before the onset of advanced hypertrophy or failure of other organs, supports the value of this imaging technique in differential diagnosis of concentric and diffuse LVH.
法布里病（FD）是一种罕见的遗传性疾病，由α半乳糖苷酶 A 活性丧失引起，导致糖脂在包括心脏肥大在内的各种器官中积累。大多数关于 FD 心脏受累的报告都集中在左心室肥厚（LVH）及其与舒张功能的关系上。然而，最近的研究表明，FD 患者中有很大一部分存在右心室（RV）肥厚。心血管磁共振（CMR）可准确描述 RV 的容积、功能和质量。CMR 研究还可用于识别心肌纤维化的典型局灶部位（LV 的下外侧节段），这已被证明是酶替代治疗效果不佳的标志物。我们报告了 8 例经基因证实的 FD 患者的 CMR 研究系列。我们在 LVH 最严重且 RV 功能和容积无明显影响的患者中，发现了 RV 受累的典型同心性和弥漫性 LVH 模式。我们表明，心肌纤维化不仅可以在 LV 中观察到，也可以在 RV 中观察到。在 2 例 FD 患者中，FD 合并有症状性冠状动脉疾病，1 例患者的心肌纤维化证据为缺血性起源的心内膜下纤维化。在疾病的早期，即在其他器官出现晚期肥厚或衰竭之前，CMR 证实了一位患者存在 FD，这支持了这种成像技术在同心性和弥漫性 LVH 的鉴别诊断中的价值。
