Fabry Cardiomyopathy.
- Author:
Jae Yong YOON
1
;
Joon Hyuk SONG
;
Sang Soo CHEON
;
Hyun Jun CHO
;
Myung Hwan BAE
;
Jang Hoon LEE
;
Dong Heon YANG
;
Hun Sik PARK
;
Yongkeun CHO
;
Shung Chull CHAE
Author Information
- Publication Type:Case Report
- Keywords: Fabry disease; Alpha-galactosidase A; Cardiomyopathies
- MeSH: alpha-Galactosidase; Cardiomyopathies; DNA; Dyspnea; Echocardiography; Endothelium, Vascular; Fabry Disease; Genes, vif; Glycosphingolipids; Heart; Humans; Hypertrophy, Left Ventricular; Immunosuppressive Agents; Kidney Failure, Chronic; Kidney Transplantation; Neutral Glycosphingolipids; Plasma
- From:Journal of Cardiovascular Ultrasound 2013;21(1):26-29
- CountryRepublic of Korea
- Language:English
- Abstract: Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the alpha-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. In the heart, glycosphingolipids deposition causes progressive left ventricular hypertrophy (LVH). We report a case of Fabry disease which was suspected based upon two-dimensional echocardiographic finding of LVH. A 44-year-old man was admitted to evaluation of aggravated exertional dyspnea of two weeks duration. He had been diagnosed with end-stage renal disease of unknown etiology at age 41 followed by renal transplantation that year. He had been treated with oral immunosuppressive agents. On hospital day two, transthoracic echocardiography revealed concentric LVH. Left ventricular systolic function was preserved but diastolic dysfunction was present. Fabry disease was confirmed by demonstration of a low plasma alpha-galactosidase A (alpha-Gal A) activity. Analysis of genomic DNA showed alpha-Gal A gene mutation. The patient was diagnosed with Fabry disease.
