背景:戈谢病(GD)是一种溶酶体贮积病,导致葡萄糖脑苷脂在网状内皮细胞内积累,血液学,神经学,骨骼和腹部器官。这些临床表现对所有类型的GD都很常见,但是分类取决于是否存在神经系统受累(I型)或其存在(II型和III型)。心脏受累很少见,只有少数病例报道,其中瓣膜和主动脉钙化与IIIc型相关。其他心脏表现,比如缩窄性心包炎,肺动脉高压,心肌浸润,和限制性心肌病,也有报道。
方法:我们报告一例72岁的已知1型GD患者,在运动过程中出现突发性晕厥。他还报告说,运动不容忍现象持续了三个月。超声心动图发现同心左心室肥厚伴有节段性运动功能减退,双心房扩大,并轻度降低射血分数。二尖瓣血流有利于充盈压升高的II级舒张功能障碍。心脏磁共振(CMR)显示基底下间隔壁间质纤维化,可能是由于GD的心肌浸润。由于缺乏心脏GD的超声心动图和CMR标志,我们对类似的发现进行了文献综述.
结论:该病例说明了非侵入性心脏成像在诊断中的重要性,GD心脏表现的预后和处理。
BACKGROUND: Gaucher disease (GD) is a lysosomal storage disease that leads to the accumulation of glucocerebroside within reticuloendothelial cells, haematological, neurological, skeletal and abdominal organs. These clinical manifestations are common to all types of GD, but categorization depends on the absence of neurological involvement (type I) or its presence (type II and III). Cardiac involvement is rare and only reported in few cases, where valvular and aortic calcifications were associated with type IIIc. Other cardiac manifestations, such as constrictive pericarditis, pulmonary hypertension, myocardial infiltration, and restrictive cardiomyopathy, had also been reported.
METHODS: We report a
case of a 72-year-old patient with known type 1 GD who presented with a sudden syncope during exercise. He reported also an exercise intolerance evolving for three months. Echocardiography found concentric left ventricular hypertrophy with segmental hypokinesis, bi-atrial enlargement, and mildly reduced ejection fraction. Mitral flow was in favour of grade II diastolic dysfunction with elevated filling pressure. Cardiac magnetic resonance (CMR) showed interstitial fibrosis in the basal infero-septal wall, probably due to the myocardial infiltration of GD. Due to the lack of echocardiographic and CMR hallmarks of cardiac GD, we conducted a literature review on similar findings.
CONCLUSIONS: This
case illustrates the importance of non-invasive cardiac imaging in the diagnosis, prognosis and management of cardiac manifestations of GD.