[Cardiac manifestations of Fabry's disease].
OBJECTIVE
Fabry' s disease is a rare X-linked recessive disease. Its cardiac manifestations are not well recognized.


METHODS
The data of 3 patients from different Chinese kindreds with Fabry's disease and cardiac manifestations who seeked medical advice in our department in 2007 were analyzed. The age, sex, family history, main symptoms, ECG and echocardiographic findings were recorded for all the patients. The diagnostic criteria of Fabry's disease was based on alpha-galactosidase (alpha-GAL) quantity in white blood cells.


RESULTS
All of the patients were female. Their age was from 41 to 57. Two of them had the typical symptoms of Fabry's disease in their young age. All of them had family history of the disease and cardiac symptoms. ECG showed ST-T change and echocardiography showed hypertrophy of left ventricule of different degrees. Their alpha-galactosidase level in white blood cells was lower than normal. The alpha-galactosidase level in patient 1 was the lowest. Her cardiac symptoms were most serious in the three patients and she had involvement of other organs.


CONCLUSIONS
Patients with Fabry's disease may have cardiac manifestations. Family history, typical symptoms in young age and the characteristics of multisystemic disorder are helpful clues to the diagnosis.
Han
Zhi-Hong
ZH
Department of Cardiology, Beijing Anzhen Hospital, Affiliated to the Capital Medical University, Beijing, China.
Jiang
Teng-Yong
TY
Ren
Xue-Jun
XJ
Wu
Xue-Si
XS
Zhang
Wei-Dong
WD
Chen
Fang
F
D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology; D000519:alpha-Galactosidase / Q000378:metabolism
D000519:alpha-Galactosidase