J Cardiovasc Ultrasound.  2013 Mar;21(1):26-29. 10.4250/jcu.2013.21.1.26.

Fabry Cardiomyopathy

• Yoon JY
• Song JH
• Cheon SS
• Cho HJ
• Bae MH
• Lee JH
• Yang DH
• Park HS
• Cho Y
• Chae SC

• KMID: 1428374
• DOI: http://doi.org/10.4250/jcu.2013.21.1.26

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.

Keyword

Fabry disease; Alpha-galactosidase A; Cardiomyopathies

MeSH Terms

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
DNA
Glycosphingolipids
Immunosuppressive Agents
Neutral Glycosphingolipids
alpha-Galactosidase

Figure

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  Fig. 1 The initial electrocardiogram showed left ventricular hypertrophy with a strain pattern, ST-T changes in leads II, III, aVF, V3-V6.

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  Fig. 2 Chest radiography. Chest radiography demonstrated cardiomegaly (cardiothoracic ratio = 70%) and blunting of both costophrenic angle.

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  Fig. 3 Two dimensional echocardiography. Severe concentric left ventricular hypertrophy is shown in a parasternal long-axis view. The interventricular septal dimension (A) was 23 mm and the left ventricular posterior wall dimension (B) was 22.8 mm in thickness.

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  Fig. 4 Pulse-waved Doppler echocardiography (A) and tissue Doppler echocardiography (B). Decreased mitral annulus velocities (E') and increased mitral peak Doppler E-wave (E) to peak mitral annulus velocity ratio (E/E') are seen, suggesting a pseudonormal pattern.

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