Tomas Palecek

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BACKGROUND Fabry's disease is an X-linked recessive genetic deficiency of the enzyme alpha-galactosidase leading to the pathologic intracellular deposition of neutral glycosphingolipids. Although cardiac involvement is frequent, there is controversy regarding the character of the associated left ventricular (LV) changes and the severity of valvular(More)
BACKGROUND Cardiac involvement is responsible for substantial morbidity and mortality in Anderson-Fabry disease (AFD). We sought to document its onset and progression in a population of male and female AFD patients. METHODS We performed a cross sectional echocardiographic study of a cohort of 177 male and female AFD patients with subsequent longitudinal(More)
OBJECTIVE Fabry disease is an X-linked disorder resulting from alpha-galactosidase A deficiency. The cardiovascular findings include left ventricular hypertrophy (LVH) and increased intima-media thickness of the common carotid artery (CCA IMT). The current study examined the possible correlation between these parameters. To corroborate these clinical(More)
BACKGROUND Takotsubo cardiomyopathy consists of reversible systolic left ventricular apical ballooning associated with chest pain. Electrocardiographic abnormalities and the minimal rise of serum cardiac markers are similar to those in acute myocardial infarction, but without evidence of myocardial ischemia or injury. To date, many reports concerning this(More)
Late failure of originally successful endoscopic third ventriculostomy (ETV) is considerably less common than failure of ventriculo-peritoneal (V-P) shunt in treatment of hydrocephalus. Death in consequence of late ETV failure is a very rare complication, so far having been mentioned in literature in 13 patients only. We present the case of an 11-year-old(More)
Systemic sclerosis (SSc) is an important cause of pulmonary arterial hypertension (PAH), with an estimated prevalence of 7.85–26.7%. Our aim was to estimate the prevalence of PAH among patients with SSc in the Czech Republic and to compare haemodynamics in SSc patients diagnosed with PAH through screening with those diagnosed previously, based on symptoms.(More)
Eosinophilic myocarditis (EM) represents a rare form of myocardial inflammation with very heterogeneous aetiology. In developed countries, the most prevalent causes of EM are hypersensitivity or allergic reactions, as well as hematological diseases leading to eosinophilia. The disease may have a variable clinical presentation, ranging from asymptomatic(More)
Fabry disease is an X-linked recessive genetic disorder of glycosphingolipid metabolism, due to deficiency of the lysosomal enzymeα-galactosidase A. The disease is characterized by the progressive intracellular lysosomal accumulation of neutral glycosphingolipids throughout the body, including the cardiovascular system. It has been reported that cardiac(More)
UNLABELLED Fabry disease is a rare X-linked defect of the lysosomal enzyme alpha-galactosidase A. The disease is characterized by progressive intracellular accumulation of neutral glycosphingolipids. The storage occurs within various tissues and cells, including cardiocytes, the cardiac conduction system, and valvular fibrocytes. Cardiac involvement may be(More)
Dilated cardiomyopathy (DCM) represents the third most common cause of heart failure and the most frequent cause of heart transplantation. Infectious, mostly viral, and autoimmune mechanisms, together with genetic abnormalities, have been reported as three major causes of DCM. We hypothesized that Lyme disease (LD), caused by spirochete Borrelia burgdorferi(More)