Fabry disease (FD) is an X-linked lysosomal storage disease caused by a mutation in the gene encoding α-galactosidase A and leads to reduced activity or complete absence of this enzyme, which causes the accumulation of globotriaosylceramide (Gb3) and its deacylated form (lyso-Gb3) in cells of the whole body. FD can occur both with multisystem manifestations, including damage to the nervous system, kidneys, and skin, and can affect only the heart. Cardiac involvement is a major cause of poor quality of life and death in patients with FD and an underrecognized cause of heart failure with preserved ejection fraction and ventricular arrhythmias in men over 30 years of age and women over 40 years of age. Cardiac damage begins at an early age, progresses subclinically until the appearance of significant symptoms, and usually manifests as leftventricular hypertrophy, mimicking hypertrophic cardiomyopathy. After the introduction of enzyme replacement therapy, early recognition of FD and differential diagnosis with other causes of leftventricular hypertrophy have become crucial to limit the progression of the disease. Recent advances in the understanding of cardiac pathophysiology and imaging have improved diagnostic and therapeutic approaches to the cardiac manifestations of this pathology. Modern achievements in the study of cardiac manifestations of FD have made it possible to significantly improve diagnostic and therapeutic approaches, in particular, in relation to the identification of pathogenetic mechanisms of organ damage and early disruption of their function. A better understanding of secondary pathogenic pathways, such as myocardial inflammation, may influence future therapeutic strategies and timely diagnosis of FD. Delay in diagnosis and untimely initiation of treatment remain critical problems for many patients with FD, especially for patients with late-onset cardiovascular manifestations, in whom treatment effects may be more limited and ineffective. Cooperation between specialists in genetic diseases and cardiologists remains important to identify patients before the appearance of cardiac symptoms in order to obtain maximum therapeutic effects.

Background. Speckle tracking echocardiography (STE) provides valuable information about global and regional myocardial function. STE during dobutamine stress-echocardiography (DSE) enables more reliable ischemia diagnosis. The aim of the study was to evaluate STE feasibility as a DSE visualization method and its accuracy compared to coronary angiography (CAG) in the patients with moderate-to-high coronary arteries disease (CAD) risk. Methods. We prospectively examined 140 patients (84 [60.0%] men and 56 [40.0%] women) with suspected CAD in order to verify diagnosis and evaluate myocardial viability and coronary reserve. Results. Mean left ventricular ejection fraction (LVEF) was 54.4±15.8%. All the patients had normal blood pressure (BP) and heart rate (HR) during the test. There were no significant hemodynamics alterations during the test. There were no significant complications during DSE with only 15 (12.9%) cases of different relatively low grade supraventricular and ventricular arrhythmia, mainly transitory without interventions. There were 116 (82.9%) positive DSE results, of which 2 (1.72%) were false-positive. In 2 (8.3%) patients with negative DSE results, CAG revealed 1-vessel insignificant (50– 70%) lesions with developed collaterals (false-negative results). According to DSE and CAG results, 96 (82.3%) patients underwent revascularization interventions: 86 (89.6%) percutaneous coronary interventions (PCIs) and 10 (10.4%) coronary artery bypass grafting (CABG) surgery. Sensitivity and specificity of DSE with STE for primary CAD diagnosis according to the “golden standard” CAG results were 98.3% and 91.7%, respectively, with identical positive and negative predictive values and very high overall accuracy of the method (AUC = 0.98; OR = 627.0, p<0.0001). Sensitivity and specificity of DSE with STE for defining indications for intervention and revascularization were 97.9% and 91.7%, respectively, with high overall accuracy (AUC = 0.95; OR = 564.0, p<0.0001). Combined quantification of ΔGLS and ΔWMSI for primary CAD diagnosis showed significantly lower sensitivity 86.2%(p=0.0002)andspecificity80.4%(p=0.0064)withsignificantlylowerintegralmethodaccuracy(AUC0.83,p<0.0001). Conclusions. DSE with STE as a visualization method is a safe and optimal method for ischemia diagnosis and evaluation of myocardial viability and coronary reserve in patients with suspected CAD. Given the lower ΔGLS and ΔWMSI accuracy compared to integral DSE with STE result evaluation, as well as frequent GLS growth in significant number of patients with definite positive test result, authors recommend evaluating integral test result rather than strain value.

Background. Left ventricular aneurysm (LVA) is a complication occurring in 5–10% of acute myocardial infarction (AMI) patients significantly complicating AMI acute stage course and leading to advanced congestive heart failure (CHF) progress. Non-invasive LVA visualization includes echocardiography, cardiac magnetic resonance imaging (MRI), radio-nuclide ventriculography, and multi-slice computed tomography (MSCT). It can also be detected during heart catheteriza-tion by coronary ventriculography (CVG). Each method has its advantages and drawbacks. The aim. To analyze multimodal non-invasive LVA visualization methods (echocardiography and MSCT) in order to establish accuracy of these methods compared to CVG regarding the diagnosis of LVA and LVA thrombosis. Methods. We examined 60 patients after AMI with LVA admitted for surgical revascularization and left ventricular aneurysm resection (LVAR). Control group included 110 patients after AMI prior to revascularization without history of LVA. All the patients underwent CVG, heart MSCT and echocardiography prior to surgery. Results. Mean patients’ age was 60.9±11.4 years (46 [76.7%] men and 14 [23.3%] women, mean LVEF was 42.7±11.1%. Significant CAD according to coronary angiography (CAG) before surgery was proved in 59 (98.3%) pa-tients, and 1 (1.7%) patient had no significant coronary lesions. The majority of patients had anterior LVA localization after AMI in LAD area (57 [95.0%] patients), 2 (3.3%) patients were diagnosed with inferior LVA after AMI in RCA area, and 1 (1.7%) patient had posterior-lateral LVA in Cx area. There was high correlation between LVEF obtained with echo-cardiography and that obtained with MSCT (r=0.955, p<0.0001), although mean LVEF obtained with echocardiography was significantly higher compared to MSCT results (42.7±11.1% vs. 32.7±9.3%, p<0.0001). Comparison of accuracy of the methods in LVA diagnosis showed that MSCT was the most precise method with significantly higher sensitivity compared to CVG and echocardiography (94.9% vs. 75.0%, p=0.002, and 88.0%, p=0.023, respectively), and MSCT significantly ex-ceeded CVG in all diagnostic method accuracy indices. Echocardiography also significantly exceeded CVG in all diagnostic accuracy indices. Comparison of accuracy of the methods in LVA thrombosis diagnosis showed similar results: echocar-diography was much more precise in terms of sensitivity (79.4% vs. 58.8%, p<0.0001) and the rest of indices. MSCT was much more precise in terms of all indices compared to CVG, and also significantly exceeded echocardiography results in terms of sensitivity (97.1% vs. 79.4%, p<0.0001), positive (PPV) (100.0% vs. 93.1%, p=0.0005) and negative predictive value (NPV) (99.1% vs. 93.9%, p=0.0091), integral “area under curve” index (AUC) (0.99 vs. 0.89, p=0.0001) and odds ratio (OR) (3630 vs. 208, p<0.0001). Conclusions. High correlation of LVEF according to echocardiography and MSCT results allows to skip CVG as a global LV contractility evaluation method enabling to reduce the procedure time. The lowest accuracy of CVG in the diagnosis of LVA and LVA thrombosis also allows to reduce the duration and volume of the invasive procedure to selective CAG and to reduce radiation exposure for patients and operators in favor of non-invasive and more accurate methods (MSCT and echocardiography). MSCT is the most accurate method for LVA thrombosis diagnosis, but it is completely comparable to echocardiography in LVA diagnosis per se, making echocardiography the method of choice in screening and stratification of patients after AMI regarding myocardial revascularization only or combined surgical revascularization with LVAR due to its rapidness, low cost and absence of patient-related adverse effects.