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  • Spremembe na srcu pri bolnikih s Fabryjevo boleznijo v Sloveniji = Cardiac manifestations in Fabry patients in Slovenia
    Verovnik, Franc ; Benko, Davorin ; Vujkovac, Bojan
    Background and aim of the study. Five families with Fabry disease (FD) have been found in Slovenia so far. The aim of the study was to determine the cardiac manifestations in our Fabry patients. ... Methods. All the family members with FD confirmed by enzymatic essay were examined. Clinical examination, laboratory tests, 12 channel ECG, echocardiographic studies, ultrasound examinations of periferal vessels and abdomen, spirometry, exercise testing and Holter monitoring were performed. Results. We examined 15 women with mean age 40+/-17 years. Echocardiography revealed left ventricular hypertrophy (LVH) in 3 of them and valvular disorders in 7. One had arterial hypertension and 2 significant arrhythmias. Because the exercise testings were prematurely stopped the diagnostic value of the results was lessened. The mean age of 7 men was 39 +/- 8 years. Five of them had LVH and in 6 there was some vatvular disorder. One had arterial hypertension and none had significant arrhythmia. Exercise testing revealed myocardial ischaemia in one, was stopped prematurelyin 3 because of the pains in legs, and was normal in 2 probands. Conclusions. FD is inherited genetic disorder of glycosphingolipid catabolism affecting all human organs. LVH is typical cardiac manifestation of the accumulation of neutral glycosingolipids in myocardium. Often various valvularand conduction defects are present. Whenever a LVH without obvious clinical cause is found, the possible diagnostic option is also FD. The early recognition of FD is extremely important as it could be successfuly treated byenzyme replacement therapy.
    Vir: Slovenska kardiologija : znanstveno strokovna revija za področje srčno-žilne medicine. - ISSN 1581-8543 (Letn. 2, št. 1, 2005, str. 30-34)
    Vrsta gradiva - članek, sestavni del
    Leto - 2005
    Jezik - slovenski
    COBISS.SI-ID - 19259097

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