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• Clinical Article •
Fabry’s disease: clinical features and imaging findings
ZHAO Shi-hua  WAN Jun-yi  LU Min-jie  JIANG Shi-liang  ZHANG Yan  CHENG Huai-bing  YIN Gang  WANG Hong-yue  LI Li 

DOI:10.3969/j.issn.1674-8034.2014.05.007.


[Abstract] Objective: One typical case with Fabry's disease was reported and a series of clinincal and imaging characteristics were reviewed to identify different types of cardiomyopathy.Materials and Methods: A 49-year-old male patient presented chest pain. ECG, echocardiography, selective coronary artery angiography and MR1 were performed.Results: ECG showed left ventricular hypertrophy, first degree of atrioventricular block and ST-T change. Echocardiography showed left ventricular hypertrophy, left ventricular outflow obstruction and SAM sign (+). Selective coronary artery angiography demonstrated no coronary artery stenosis. MRI showed diffuse myocardial hypertrophy associated with delayed enhancement involving septal, anterial and inferolateral wall of basal segment of left ventricle.Conclusions: Patients with Fabry’s disease may have varied clinical manifestations. Clincal history, multisystemic involvement and delayed enhancement MRI may be helpful to the diagnosis.
[Keywords] Fabry disease；Alpha-galactosidase；Magnetic resonance imaging

ZHAO Shi-hua* Department of Radiology in Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China

WAN Jun-yi Department of Radiology in Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China

LU Min-jie Department of Radiology in Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China

JIANG Shi-liang Department of Radiology in Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China

ZHANG Yan Department of Radiology in Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China

CHENG Huai-bing Department of Radiology in Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China

YIN Gang Department of Radiology in Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China

WANG Hong-yue Department of Pathology in Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China

LI Li Department of Pathology in Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China

*Correspondence to: Zhao SH, E-mail: cjr.zhaoshihua@vip.163.com

Conflicts of interest   None.

Received  2014-03-05
Accepted  2014-04-10
DOI: 10.3969/j.issn.1674-8034.2014.05.007
DOI:10.3969/j.issn.1674-8034.2014.05.007.

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