Background: Hematopoietic stem cell transplantation (HSCT) is a potentially curative procedure that is used in various hematological malignancies. However, among an increasing number of HSCT, the amount of cancer therapy-related cardiac dysfunction (CTRCD) is increasing as well. This study aimed to determine the prevalence of subclinical CTRCD in HSCT patients 12 months after HSCT and to assess the impact of clinical factors on the development of CTRCD. Material and Methods: We included 55 patients who underwent autologous or allogeneic HSCT. The patients were assessed using an echocardiography method before and 12 months after a HSCT procedure. Results: Our study revealed that during the 12-month follow-up period, asymptomatic CTRCD was observed in 15 patients (27.3%), 6 experienced moderate CTRCD, and 9 experienced mild CTRCD. Patients with previous use of anthracyclines tended to have CTRCD more often: nine patients (60%) in the CTRCD group and nine patients (22.5%) in non-CTRCD group. Patients who received the BEAM regimen for conditioning also experienced CTRCD more often: five patients (33.3%) in CTRCD group vs. two patients (5%) in the non-CTRCD group. Conclusions: Our study showed that asymptomatic CTRCD was found in 27.3% of the patients 12 months after HSCT. The BEAM chemotherapy conditioning protocol following prior anthracycline use were identified as factors contributing to the development of CTRCD.
Introduction: Hematopoietic stem cell transplantation (HSCT) recipients are at increased risk of cardiovascular diseases. In our study, we aimed to find subclinical changes in myocardial tissue after HSCT with the help of cardiovascular magnetic resonance (CMR) tissue imaging techniques. Methods: The data of 44 patients undergoing autologous and allogeneic HSCT in the Hospital of Lithuanian University of Health Sciences Kaunas Clinics from October 2021 to February 2023 were analyzed. Bioethics approval for the prospective study was obtained (No BE-2-96). CMR was performed two times: before enrolling for the HSCT procedure (before starting mobilization chemotherapy for autologous HSCT and before starting the conditioning regimen for allogeneic HSCT) and 12 ± 1 months after HSCT. LV end-diastolic volume, LV end-systolic volume, LV mass and values indexed to body surface area (BSA), and LV ejection fraction were calculated. T1 and T2 mapping values were measured. Results: There was a statistically significant change in T1 mapping values. Before HSCT, mean T1 mapping was 1226.13 ± 39.74 ms, and after HSCT, it was 1248.70 ± 41.07 ms (p = 0.01). The other parameters did not differ significantly. Conclusions: Increases in T1 mapping values following HSCT can show the progress of diffuse myocardial fibrosis and may reflect subclinical injury. T2 mapping values remain the same and do not show edema and active inflammation processes at 12 months after HSCT.
Background: The hematopoietic stem cell transplantation (HSCT) process is known to cause cardiac toxicity of different grades. In this paper, we aimed to evaluate the impact of mobilization procedure of hematopoietic stem cells for autologous HSCT process for left and right ventricle sizes and functions. Material and Methods: The data of 47 patients undergoing autologous HSCT were analyzed. All patients underwent hematopoietic stem cell mobilization with chemotherapy and filgrastim at 10 µg/kg/d. Echocardiography was performed two times: before enrolling in the transplantation process and after mobilization before the conditioning regimen for transplantation. Changes in left and right ventricle (RV) diameter and systolic and diastolic function of the left ventricle and systolic function of the RV were measured. Results: A statistically significant difference was observed in the change of right ventricular function (S‘)—it slightly decreased. Mean S‘ before mobilization was 13.93 ± 2.85 cm/s, and after mobilization it was 12.19 ± 2.64 cm/s (p = 0.003). No statistically significant change in left ventricular diameter and systolic and diastolic function and RV diameter was observed. Conclusions: The mobilization procedure in patients undergoing autologous HSCT is associated with reduced RV systolic function. S‘ could be used as a reliable tool to evaluate early cardiotoxicity in HSCT patients and guide further follow-up.
Background and Objectives: This study aimed to determine the diagnostic yield of familial hypercholesterolemia (FH) genotyping and to describe the clinical phenotype and pharmacogenomic (PGx) implementation readiness of adults referred for clinically suspected FH at a Lithuanian tertiary cardiology center. The study was designed as a descriptive retrospective analysis of existing clinical and genetic test results generated using heterogeneous historical sequencing platforms. Materials and Methods: This single-center descriptive cohort included 48 adults with clinically suspected FH evaluated between February 2022 and June 2023. Patients were classified according to Dutch Lipid Clinic Network criteria before genetic testing. Historical targeted next-generation sequencing (NGS) and whole-exome sequencing (WES) results were reviewed. Genetic findings were interpreted using a three-tier reporting framework: diagnostic FH-associated findings, pharmacogenomic findings relevant to future implementation, and VUS, common polymorphisms, or other non-diagnostic findings. Because harmonized PGx star-allele/diplotype calling was not available across historical platforms, PGx findings were not analysed as a mutually exclusive patient-level category. Results: Pathogenic FH-associated variants were identified in 13 of 48 patients (27.1%), including eight LDLR and five APOB variant carriers. In the remaining 35 patients (72.9%), no pathogenic or likely pathogenic FH-associated variant was identified within the analytical scope of the historical test used. This non-diagnostic category could include VUS, common polymorphisms, exploratory findings, or no reportable variant. Patients carrying pathogenic LDLR variants had higher total cholesterol and LDL-C concentrations than patients without detected pathogenic variants. PGx-related findings were considered observations relevant to reporting and future implementation; they were not evaluated as predictors of statin response, statin intolerance, or LDL-C reduction. Conclusions: In this Lithuanian real-world cohort, pathogenic LDLR or APOB variants were identified in 27.1% of patients referred for suspected FH. Retrospective analyses of heterogeneous historical genetic results can inform diagnostic reporting and implementation planning but cannot establish PGx associations with statin efficacy or intolerance without harmonized diplotype calling and prospectively collected treatment outcomes.
Background and Objectives: Transcatheter aortic valve replacement (TAVR) in large aortic annuli poses challenges due to limited valve-size options and increased complication risks. The aim is to evaluate the safety and performance of XL sizes (30.5 mm and 32 mm) of the Myval transcatheter heart valve (THV) for treating patients with severe aortic stenosis and large aortic annuli. Material and Methods: This retrospective observational study included consecutive patients undergoing TAVR with XL sizes of the Myval THV between December 2023 and December 2024 at a single centre. During this period, 146 TAVI procedures were performed, of which 15 patients (10.3%) with large aortic annuli (mean systolic annular area 786.5 ± 48.2 mm2) received XL valves and were included in the present analysis. Patients were followed up at discharge, 3–6 months, and 1 year. Patient evaluation included echocardiography and clinical assessments following the Valve Academic Research Consortium-3 criteria. Results: All patients were male, with a mean age of 79.1 ± 5.9 years. Technical success was achieved in 100% of cases. At discharge, none of the patients had moderate or greater paravalvular leakage (PVL); 11 patients had no PVL, while 1 had trace and 3 had mild PVL. The mean effective orifice area (EOA) improved from 0.75 ± 0.15 cm2 at baseline to 2.31 ± 0.21 cm2 at discharge (p < 0.0001). At the 12-month follow-up, the mean EOA was 2.4 ± 0.3 cm2, and no moderate or severe PVL or major adverse clinical outcomes were observed. One patient required a permanent pacemaker implantation due to an atrioventricular block. Conclusions: The XL sizes of Myval THV showed both safety and efficacy in patients with large aortic annuli, demonstrating acceptable hemodynamic performance and low complication rates. However, large-scale studies with longer follow-ups are needed to validate these findings in diverse populations.