Thebault Christophe, Ollivier Romain, Leurent Guillaume, Marcorelles Pascale, Langella Bernard, Donal Erwan
Department of Cardiology, University Hospital Pontchaillou, 35033 Rennes, France.
Eur J Echocardiogr. 2008 Nov;9(6):840-5. doi: 10.1093/ejechocard/jen189. Epub 2008 Jun 25.
When diagnosing a restrictive hypertrophied cardiomyopathy, most echocardiographists consider cardiac amyloidosis as a possible cause, especially after the appearance of 'granular' sparkling echoes on a transthoracic echocardiography. However, other infiltrative diseases (i.e. metabolic myopathies, Gaucher, Hunter's, and Hurler's diseases) or storage cardiomyopathies (haemochromatosis, Fabry's disease, glycogen storage, and Niemann-Pick disease) should be considered. In this paper, we report on another unusual cause of restrictive cardiomyopathy of which all cardiologists should be aware.
在诊断限制性肥厚型心肌病时，大多数超声心动图医生会将心脏淀粉样变性视为可能的病因，尤其是在经胸超声心动图上出现“颗粒状”闪烁回声之后。然而，也应考虑其他浸润性疾病（如代谢性肌病、戈谢病、亨特综合征和黏多糖贮积症Ⅰ型）或贮积性心肌病（血色素沉着症、法布里病、糖原贮积病和尼曼-匹克病）。在本文中，我们报告了一种所有心脏病专家都应知晓的限制性心肌病的不寻常病因。
