Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease.

Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), which are characterised by insufficient activity of enzymes responsible for the intra-lysosomal breakdown of various substrates. The result is an uncontrolled accumulation of by-products of cellular metabolism. Lysosomal storage diseases are inherited diseases, transmitted mainly in an autosomal recessive fashion.

Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis.

Purpose: While early diagnosis is crucial, as new treatments can significantly slow the progression of the disease, there is growing evidence on the application of novel imaging techniques for detecting transthyretin amyloidosis (ATTR) in pre-symptomatic stages. This study aimed to evaluate the utility of pre-symptomatic scintigraphic imaging cascade screening for early detection of ATTR.

Methods: During the period from 2020 to 2024, we conducted a prospective study that enrolled 100 consecutive adults.

Left ventricular diastolic dysfunction worsens prognosis in patients with heart failure due to dilated cardiomyopathy.

Aims: The prognostic significance of left ventricular (LV) diastolic dysfunction (LVDD) severity in patients with dilated cardiomyopathy (DCM) remains uncertain. This study aimed to evaluate the association of LVDD severity and elevated left atrial pressure (eLAP) with patient outcomes in stable, non-acutely decompensated patients with DCM.

Methods: This single-centre, retrospective, observational study involved 740 DCM patients (either inpatients or outpatients) managed at our tertiary cardiac centre between 2010 and 2021.

Cardiac troponin I release after transcatheter closure of atrial septal defects is associated with supraventricular arrhythmias on early follow-up.

Introduction: Atrial septal defects (ASD) are prevalent congenital heart anomalies found in the adult population. Percutaneous ASD closure has become a routine clinical practice. Elevation of postprocedural transient cardiac biomarkers and exacerbation of supraventricular arrhythmias have been reported in the subject literature.

Effect of alcohol abuse on selected markers of inflammation, hemostasis, and endothelial function.

Background: Alcohol consumption, even in moderate amounts, is associated with complex changes in blood biochemistry, involving abnormalities of many markers affecting cardiovascular risk.

Methods: A total of 100 patients with documented alcohol abuse were included in the study. Demographic data and information on alcohol consumption were collected using a standardized questionnaire.