[Cardiac manifestation of Fabry's disease: current knowledge].
Fabry's disease is a rare lysosomal storage disease caused by the X-linked defect of the enzyme alpha-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.
Palecek
T
T
II. interní klinika kardiologie a angiologie 1. lékarské fakulty UK a VFN, Praha.
Lubanda
J-C
JC
Magage
S
S
Karetová
D
D
Bultas
J
J
Linhart
A
A
D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006331:Heart Diseases / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D006801:Humans