Showing papers by "Aleš Linhart published in 2023"

Three-dimensional left ventricular strain analysis in Fabry disease: correlation with heart failure severity, myocardial scar and impact on long-term prognosis

Abstract: Type of funding sources: Public Institution(s). Main funding source(s): Charles University Research program “Cooperatio - Cardiovascular Science”. Fabry disease (FD) is a multisystemic lysosomal storage disorder caused by a defect in the gene coding the alpha-galactosidase A enzyme. Cardiac involvement typically manifests as a phenocopy of hypertrophic cardiomyopathy. Three-dimensional echocardiography can analyze myocardial deformation of the left ventricle (LV) in both circumferential and longitudinal dimensions. We assessed 3D echocardiographic strain of the LV in FD patients in relation to heart failure severity, the presence of cardiovascular magnetic resonance (CMR) scar and long-term prognosis. 3D echocardiography was feasible in 75/99 FD patients. Baseline natriuretic peptides and CMR late gadolinium enhancement were assessed together with long term outcome (death, heart failure decompensation or cardiovascular hospitalization) over a median follow-up of 3.1 years. The average age was 47 ± 14 years, 44% of patients were male and 51% expressed hypertrophy or concentric remodeling of the LV. Average LV ejection fraction (EF) was 65 ± 6%. A stronger correlation was observed for NTproBNP levels with 3D global longitudinal strain (GLS) (r = 0.49, p < 0.0001) than with 3D global circumferential strain (GCS) (r = 0.38, p < 0.001). LV EF by 3D weakly correlated with NTproBNP levels (r = 0.25, p = 0.036). Individuals with posterolateral scar on CMR had significantly lower local 3D circumferential strain at corresponding region (p = 0.008). 3D GLS was associated with long-term outcome (adjusted HR 0.84, CI 0.75, 0.95, p = 0.004) while 3D GCS was not (HR 0.94, CI 0.85 – 1.10, p = 0.284). 3D LV EF was not associated with long-term outcome. 3D GLS is strongly associated with both heart failure severity measured as natriuretic peptides levels and long-term prognosis. Only borderline association of 3D GCS with HF severity and no association with prognosis was observed. Decreased local 3D CS reflects typical posterolateral scarring in FD. Where feasible, 3D-strain echocardiography can be used for comprehensive mechanical assessment of the LV in FD patients.

Three-dimensional echocardiographic left ventricular strain analysis in Fabry disease: correlation with heart failure severity, myocardial scar, and impact on long-term prognosis.

Abstract: AIMS Fabry disease (FD) is a multisystemic lysosomal storage disorder caused by a defect in the alpha-galactosidase A gene that manifests as a phenocopy of hypertrophic cardiomyopathy. We assessed the echocardiographic 3D left ventricular (LV) strain of patients with FD in relation to heart failure severity using natriuretic peptides, the presence of a cardiovascular magnetic resonance (CMR) late gadolinium enhancement scar, and long-term prognosis. METHODS AND RESULTS 3D echocardiography was feasible in 75/99 patients with FD [aged 47 ± 14 years, 44% males, LV ejection fraction (EF) 65 ± 6% and 51% with hypertrophy or concentric remodelling of the LV]. Long-term prognosis (death, heart failure decompensation, or cardiovascular hospitalization) was assessed over a median follow-up of 3.1 years. A stronger correlation was observed for N-terminal pro-brain natriuretic peptide levels with 3D LV global longitudinal strain (GLS, r = -0.49, P < 0.0001) than with 3D LV global circumferential strain (GCS, r = -0.38, P < 0.001) or 3D LVEF (r = -0.25, P = 0.036). Individuals with posterolateral scar on CMR had lower posterolateral 3D circumferential strain (CS; P = 0.009). 3D LV-GLS was associated with long-term prognosis [adjusted hazard ratio 0.85 (confidence interval 0.75-0.95), P = 0.004], while 3D LV-GCS and 3D LVEF were not (P = 0.284 and P = 0.324). CONCLUSION 3D LV-GLS is associated with both heart failure severity measured by natriuretic peptide levels and long-term prognosis. Decreased posterolateral 3D CS reflects typical posterolateral scarring in FD. Where feasible, 3D-strain echocardiography can be used for a comprehensive mechanical assessment of the LV in patients with FD.

A unique case of extensive myocardial late iodine enhancement on CT in Anderson-Fabry disease.

Abstract: A 52-year-old patient with Anderson–Fabry disease (AFD) with known severe left ventricular (LV) hypertrophy and implanted cardioverter defibrillator was evaluated for progression of LV dysfunction. Most AFD patients have preserved LV ejection fraction (EF), with fibrosis limited to the posterolateral wall. In more advanced disease, EF can decline in part due to extensive replacement fibrosis. Contrast-enhanced cardiac magnetic resonance (CMR) is the gold standard for myocardial tissue characterization. However, in a substantial proportion of patients, CMR is not feasible due to contraindications or claustrophobia. In our case, patient’s EF declined from 60% to 45% (see Supplementary data online, Video). Longitudinal deformation of the LV was decreased with impaired global longitudinal strain −11.5% (Panel A). A CT coronary angiography was performed (Panel B, left anterior descending, right coronary artery, * - metal artefact), showing no significant coronary artery disease and confirming LV hypertrophy (Panel C). Due to CMR contraindication, CT late iodine enhancement phase was also performed in addition to the CT coronarography. Late scans show extensive midmyocardial late iodine enhancement, with dominance in basal and mid parts of both the interventricular septum and the free wall (Panel D). To our best knowledge, this is the first case reporting CT late iodine enhancement in AFD cardiomyopathy. It illustrates that the addition of late iodine enhancement phase in patients undergoing CT coronary angiography can in some cases detect scarring of the LV wall and should be considered when CMR is not feasible or limited by artefacts.

State-of-the-art document on optimal contemporary management of cardiomyopathies.

Abstract: Cardiomyopathies represent significant contributors to cardiovascular morbidity and mortality. Over the past decades, a progress has occurred in characterisation of the genetic background and major pathophysiological mechanisms, which has been incorporated into a more nuanced diagnostic approach and risk stratification. Furthermore, medications targeting core disease processes and/or their downstream adverse effects have been introduced for several cardiomyopathies. Combined with standard care and prevention of sudden cardiac death, these novel and emerging targeted therapies offer a possibility of improving the outcomes in several cardiomyopathies. Therefore, the aim of this document is to summarise practical approaches to the treatment of cardiomyopathies, which includes the evidence-based novel therapeutic concepts and established principles of care, tailored to the individual patient aetiology and clinical presentation of the cardiomyopathy. The scope of the document encompasses contemporary treatment of dilated, hypertrophic, restrictive and arrhythmogenic cardiomyopathy. It was based on an expert consensus reached at the Heart Failure Association online Workshop, held on March 18th 2021. This article is protected by copyright. All rights reserved.

Correction: Jansa et al. Hospitalisation Is Prognostic of Survival in Chronic Thromboembolic Pulmonary Hypertension. J. Clin. Med. 2022, 11, 6189

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Catheter ablation of atrial fibrillation and atrial tachycardia in patients with pulmonary hypertension: a randomized study

Abstract: Abstract Aims Atrial fibrillation (AF), typical atrial flutter (AFL), and other atrial tachycardias (ATs) are common in patients with pulmonary hypertension. Frequently, several supraventricular arrhythmias are successively observed in individual patients. We investigated the hypothesis of whether more extensive radiofrequency catheter ablation of the bi-atrial arrhythmogenic substrate instead of clinical arrhythmia ablation alone results in superior clinical outcomes in patients with pulmonary arterial hypertension (PH) and supraventricular arrhythmias. Methods and results Patients with combined post- and pre-capillary or isolated pre-capillary PH and supraventricular arrhythmia indicated to catheter ablation were enrolled in three centres and randomized 1:1 into two parallel treatment arms. Patients underwent either clinical arrhythmia ablation only (Limited ablation group) or clinical arrhythmia plus substrate-based ablation (Extended ablation group). The primary endpoint was arrhythmia recurrence >30 s without antiarrhythmic drugs after the 3-month blanking period. A total of 77 patients (mean age 67 ± 10 years; 41 males) were enrolled. The presumable clinical arrhythmia was AF in 38 and AT in 36 patients, including typical AFL in 23 patients. During the median follow-up period of 13 (interquartile range: 12; 19) months, the primary endpoint occurred in 15 patients (42%) vs. 17 patients (45%) in the Extended vs. Limited ablation group (hazard ratio: 0.97, 95% confidence interval: 0.49–2.0). There was no excess of procedural complications and clinical follow-up events including an all-cause death in the Extended ablation group. Conclusion Extensive ablation, compared with a limited approach, was not beneficial in terms of arrhythmia recurrence in patients with AF/AT and PH. Clinical Trials Registration ClinicalTrials.gov; NCT04053361.

Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound.

Abstract: OBJECTIVES Fabry disease (FD) is a rare X-linked lysosomal storage disorder with variable phenotypes, including neurological symptoms. These can be influenced by vascular impairment. Extracranial and transcranial vascular sonography is an effective and noninvasive method for measuring arterial structures and blood flow. The study aims to investigate cerebrovascular phenotype characteristics in FD patients compared to controls using neurosonology. METHODS This is a single-center, cross-sectional study of 130 subjects-65 patients (38 females), with genetically confirmed FD, and 65 sex- and age-matched controls. Using ultrasonography, we measured structural and hemodynamic parameters, including distal common carotid artery intima-media thickness, inner vertebral artery diameter, resting blood flow velocity, pulsatility index, and cerebral vasoreactivity (CVR) in the middle cerebral artery. To assess differences between FD and controls and to identify factors influencing investigated outcomes, unadjusted and adjusted regression analyses were performed. RESULTS In comparison to sex- and age-matched controls, FD patients displayed significantly increased carotid artery intima-media thickness (observed FD 0.69 ± 0.13 mm versus controls 0.63 ± 0.12 mm; Padj = .0014), vertebral artery diameter (observed FD 3.59 ± 0.35 mm versus controls 3.38 ± 0.33 mm; Padj = .0002), middle cerebral artery pulsatility index (observed FD 0.98 ± 0.19 versus controls 0.87 ± 0.11; Padj < .0001), and significantly decreased CVR (observed FD 1.21 ± 0.49 versus controls 1.35 ± 0.38; Padj = .0409), when adjusted by age, BMI, and sex. Additionally, FD patients had significantly more variable CVR (0.48 ± 0.25 versus 0.21 ± 0.14; Padj < .0001). CONCLUSIONS Our results suggest the presence of multiple vascular abnormalities and changes in hemodynamic parameters of cerebral arteries in patients with FD.