Cardiac Manifestation
of Fabry’s Disease: Current Knowledge
Paleček T., Lubanda J.-C., Magage S., Karetová D., Bultas J., Linhart A.
II. interní klinika kardiologie a angiologie 1. lékařské fakulty UK a VFN, Praha, přednosta prof. MUDr. Michael Aschermann, DrSc. |
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Summary:
Fabry’s disease is a rare lysosomal storage disease caused by the X-linked defect of the enzyme
-galactosidase A leading to the intracellular accumulation of glycosphingolipids in various organs
and tissues. Cardiac involvement is frequent and, in individuals with some residual enzyme
activity, may be the sole manifestation of the disease. Hemizygous men are generally more seriously
affected than heterozygous women. The dominant cardiac manifestations include myocardial
hypertrophy of the left ventricle, which, in some patients, mimics hypertrophic cardiomypathy.
Left ventricular systolic function is usually preserved, on the other hand mild to moderate diastolic
dysfunction is regularly detected. Valvular abnormalities are frequently noted. However, hemodynamically
significant lesions are rare. Conduction system involvement leads initially to the
shortening of atrioventricular conduction, in later stages, with a progression of the disease, antrioventricular
blocks and various forms of supraventricular and ventricular arrhythmias appear.
Myocardial ischemia in Fabry disease has in most cases a functional origin due to endothelial
dysfunction of coronary arteries and also due to the increase oxygen demand of hypertrophied
myocardium. The results of so far performed studies with enzyme replacement therapy are promising
in preventing further deterioration and even improving function of affected organs.
Key words:
Fabry’s disease - Cardiomyopathy - Arrhythmias - Myocardial ischemia - Enzyme
replacement therapy
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