title: Fabry cardiomyopathy.
abstract: Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the α-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 α-galactosidase A (α-Gal A) activity. Analysis of genomic DNA showed α-Gal A gene mutation. The patient was diagnosed with Fabry disease.
authors.affiliation: Department of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea.
authors.forename: Jae Yong
authors.initials: JY
authors.lastname: Yoon
authors.forename: Joon Hyuk
authors.initials: JH
authors.lastname: Song
authors.forename: Sang Soo
authors.initials: SS
authors.lastname: Cheon
authors.forename: Hyun Jun
authors.initials: HJ
authors.lastname: Cho
authors.forename: Myung Hwan
authors.initials: MH
authors.lastname: Bae
authors.forename: Jang Hoon
authors.initials: JH
authors.lastname: Lee
authors.forename: Dong Heon
authors.initials: DH
authors.lastname: Yang
authors.forename: Hun Sik
authors.initials: HS
authors.lastname: Park
authors.forename: Yongkeun
authors.initials: Y
authors.lastname: Cho
authors.forename: Shung Chull
authors.initials: SC
authors.lastname: Chae
keywords: Alpha-galactosidase A; Cardiomyopathies; Fabry disease
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