Ultrasonografické hodnocení změn kardiovaskulárního systému u nemocných s Fabryho chorobou

• Main Author: Paleček, Tomáš
• Other Authors: Bultas, Jan
• Format: Doctoral Thesis
• Language: Czech
• Published: 2008
• Online Access: http://www.nusl.cz/ntk/nusl-294610

Fabry disease is an X-linked glycosphingolipid storage disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. This leads to progressive intracellular accumulation of neutral glycosphingolipids, mainly globotriaosylceramide. Besides various extracardiac disease-related abnormalities, cardiovascular involvement represents a typical manifestation of Fabry disease. The primary underlying mechanism relies on pathological substrate accumulation in cardiomyocytes, conduction system cells, valvular fibroblasts, endothelial cells and vascular smooth muscle cells. The development of cardiac and vascular hypertrophy represents a characteristic cardiovascular feature of Fabry disease. The aim of our studies was to describe in detail cardiovascular abnormalities in patients with Fabry disease using ultrasonography, which currently represents basic noninvasive imaging modality in cardiology. We focused on structural and functional abnormalities of ventricles, valvular apparatus and their relationship to vascular involvement expressed on common carotid arteries. We also compared the diagnostic accuracy of the two novel echocardiographic methods used for the left ventricular diastolic function assessment. The possible existence of circulating proliferative factor, which might be associated with...