Cardiovascular diagnosis and therapy最新文献

Congenital heart defects (CHD) represent the most common inborn organ anomaly, with more than a million newborns affected annually. Advances in diagnostics and treatment have led to significantly improved survival rates, resulting in a growing population of an estimated 50 million adults with congenital heart defects (ACHD) worldwide. As these individuals age, they often face a high burden of morbidity and complex long-term health challenges that require specialized, lifelong care. In this context, cardiological rehabilitation (CR) becomes increasingly important, not only to reduce morbidity but also to enhance patients' quality of life and support their social and occupational integration. While CR has been extensively studied and implemented for acquired heart diseases, structured rehabilitation programs tailored to the specific needs of ACHD remain limited in clinical practice and in the scientific literature. Globally, both the availability of CR and the presence of structured concepts vary widely. CR is predominantly offered in high-income countries, with Western Europe providing the most extensive services. In many low- and middle-income countries, access to CR remains limited or is sometimes not available at all. However, even in high-income settings, targeted ACHD programs are scarce, meaning that many ACHD are treated in general CR programs that do not adequately address the complexity of CHD. The present article outlines the core components of CR, provides recommendations on how these are implemented in current practice, identifies existing limitations, and discusses how services could be better aligned with the complex medical and psychosocial needs of ACHD. It also describes the role of the German Pension Insurance in funding and providing rehabilitation services in Germany. Tailored rehabilitation programs, greater integration of ACHD expertise, and targeted research are essential to improve long-term outcomes and establish patient-centered care structures for the growing ACHD population. In this way, the present paper is intended to support the development of rehabilitation programs for countries where such structures currently do not exist.

Background and objective: Congenitally corrected transposition of the great arteries (ccTGA) remains a rare congenital disorder with a wide range of manifestations. The management of heart failure (HF) of the systemic right ventricle (RV), arrhythmias, heart block, and acquired cardiac conditions require a complex and multi-faceted approach. The objective of this manuscript is to present the current evidence regarding diagnostic, treatment, and management strategies for HF in ccTGA, including ventricular assist device (VAD) therapy and heart transplantation.

Methods: A systematic review of the literature was conducted using PubMed, covering the period between 2010 and 2024. The search terms included "heart failure", "ccTGA", "VAD", "heart transplantation", and "systemic RV failure". Two clinical cases were included for illustrative purposes.

Key content and findings: HF is a common occurrence in the context of ccTGA, primarily driven by progressive pressure and volume overload of the systemic RV, regurgitation of the systemic atrio-ventricular (AV) valve, and the development of arrhythmias, including complete heart block and (supra-)ventricular tachycardia. The use of HF medication is indicated for symptomatic patients, however, data on the efficacy of standardized HF medication remains limited. Timing of AV-valve replacement is essential to prevent further progression of HF.

Conclusions: In ccTGA, the timing of surgery and interventional treatment approaches, the effect of pharmacological treatment in the context of HF, as well as the timing of initiation of a mechanical circulatory support, VAD and heart transplantation, are based on individualised consensus-level decisions. Optimal management remains a topic of debate due to the scarcity of outcome data. Future investigations should focus on identifying surrogate parameters for guiding treatment.

Background and objective: Acute coronary syndrome (ACS) is a common cardiovascular disease in clinical practice. It is caused mainly by vulnerable plaque rupture (PR) or surface plaque erosion (PE) caused by serious thrombotic events, and eventually leads to myocardial blood supply insufficiency or necrosis. The disease has high morbidity and mortality rates. In this study, we review the literature on biomarkers of ACS metabolites and modification of disease by altering related metabolic pathways through drugs, aiming to provide clarity on potential biomarkers of disease identified to date.

Methods: PubMed was used for literature review. From January 1, 2014 to December 3, 2024, English articles on clinical trials, randomized controlled trials of metabolomics studies in ACS were included.

Key content and findings: In this review, we discuss the advantages and disadvantages of three techniques currently used for metabolomic analysis. In addition, the recent decade of metabolomic approaches to the discovery of potential diagnostic and prognostic biomarkers for ACS is reviewed. It was found that the metabolites changed in patients with ACS were mostly amino acids, lipids and carbohydrates. Tryptophan and glutamine can be used as potential diagnostic biomarkers. Mannitol and ceramide can be used as prognostic biomarkers. Drugs can improve disease by affecting changes in metabolites in the body.

Conclusions: ACS studies based on metabolomics have demonstrated great potential for identifying disease-related metabolomic features in the discovery of potential biomarkers for diagnosis and prognosis and mechanisms of drug therapy.

Background: The combination therapy of angiotensin-converting enzyme inhibitors (ACEi) or alternatively angiotensin receptor-neprilysin inhibitors (ARNis), beta-blockers (BBs), mineralocorticoid receptor antagonists (MRAs), and recently sodium-glucose co-transporter 2 inhibitors (SGLT2is) has been hailed as a breakthrough in heart failure treatment for patients with structurally normal hearts, with international guidelines recommending these as first-line therapies ("fantastic four"). However, specific recommendations for adult with congenital heart disease (ACHD) and systemic right ventricle (sRV), who are at heightened risk for heart failure, are largely based on clinical experience or position statements, lacking robust clinical trial data. This study aims to evaluate the effectiveness and tolerability of these medications in ACHD patients with sRV.

Methods: This retrospective single-center cohort study included 21 adult patients with sRV and signs of heart failure [6 with d-transposition of the great arteries (d-TGA) post-atrial switch, 7 with congenitally corrected transposition of the great arteries (cc-TGA), and 8 with univentricular right heart in Fontan circulation]. Changes in functional New York Heart Association (NYHA) class, N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels, sRV function, and renal function were assessed before and after initiating or escalating heart failure pharmacotherapy with ARNi and/or SGLT2i. The median follow-up was 15 months (1.24 years).

Results: The combination therapy was well tolerated among all patients, with no interruptions in therapy and no adverse effects such as hyperkalemia, renal dysfunction, or significant hypotension reported. Among the 21 patients with follow-up data, 12 were treated with the full combination of guideline-directed therapy, including ARNi and SGLT2i. NYHA class improved in 62.0% of patients (P=0.001), and the median NT-proBNP level decreased from 870 (range, 593-1,774) to 373 (range, 189-743) ng/L (P=0.001). However, no significant change in ventricular function was detected by echocardiography.

Conclusions: Our preliminary findings suggest that in ACHD patients with a sRV the new guideline-directed heart failure pharmacotherapy regimen is well tolerated and leads to improvements in NYHA class and reductions in NT-proBNP levels. Further randomized studies are needed to confirm these promising results and to explore the effects of SGLT2i, either alone or in combination, in this patient population.

Background: Fulminant myocarditis (FM) is a severe, rapidly progressing disease with high mortality, and early identification of high-risk patients is crucial for improving outcomes. This study aims to identify factors associated with early mortality in FM and develop a risk prediction model for the early identification of high-risk patients.

Methods: A retrospective analysis was conducted using clinical data from 119 patients with FM who were hospitalized at Central China Fuwai Hospital between 2018 and 2023. The patients were divided into a training set (n=83) and a validation set (n=36). Predictive factors were identified through univariate analysis and least absolute shrinkage and selection operator (LASSO) Cox regression, followed by multivariate Cox regression. A nomogram was constructed, and its accuracy was validated using bootstrap and calibration curves. The discriminative ability and clinical utility of the model were assessed using receiver operating characteristic (ROC) curve analysis and decision curve analysis (DCA).

Results: Multivariate analysis identified respiratory symptoms, cardiopulmonary resuscitation (CPR), serum creatinine, direct bilirubin, thyroid-stimulating hormone (TSH), lactate, and left ventricular ejection fraction (LVEF) as independent predictors of early mortality. The area under the curve (AUC) for the training set was 0.907 and 0.880 on days 14 and 28, respectively, while the validation set achieved AUCs of 0.853 and 0.942 for the same time points. The overall concordance index (C-index) was 0.889 for the training set and 0.809 for the validation set. Kaplan-Meier analysis demonstrated lower mortality rates in the low-risk group. DCA demonstrated that the model provides a clinical net benefit across a range of probability thresholds, indicating its potential value in clinical decision-making.

Conclusions: A predictive model has been developed and validated to identify patients who are at high-risk with FM, based on seven key predictive factors.

Background: Recent studies have proved that long non-coding RNAs (lncRNAs) are closely related to the pathogenesis of cardiovascular diseases (CVDs), but their exact regulatory mechanism including non-coding as well as coding function in myocardial fibrosis need to be further explored. This study aims to explore the role of a novel and highly conserved lncRNA-5829 in myocardial fibrosis.

Methods: Thirty-two male C57BL/6 mice weighing 20-25 g (8 weeks old) were cultured under specific pathogen-free (SPF) conditions prior to the start of the experiment. Myocardial fibrosis cells and mouse models were established by transforming growth factor-β1 (TGF-β1) induction and ligation of the left anterior descending coronary artery (LAD) surgery. After cell overexpression or knockdown of lncRNA-5829, the levels of myocardial fibrosis markers, cell proliferation, cell viability, and α smooth muscle actin (α-SMA) were measured by real-time polymerase chain reaction (PCR), Western blot and 5-ethynyl-2'-deoxyuridine (EdU) staining, cell counting kit-8 (CCK-8), immunofluorescence technique, respectively. After mouse tail vein injection of lncRNA-5829 overexpression plasmid, the levels of myocardial fibrosis markers, cardiac function, myocardial collagen distribution, and myocardial injury were measured by real-time PCR, Western blot, and echocardiography, Masson staining, and hematoxylin-eosin staining (HE staining), respectively. Furthermore, the localization of lncRNA-5829 in cardiac fibroblasts was observed by the fluorescent in situ hybridization (FISH) assay.

Results: The expression of lncRNA-5829 is downregulated in myocardial fibrosis. In vivo models, following myocardial infarction (MI) induction, the expression of lncRNA-5829 significantly decreased compared to the sham group (P<0.001); in vitro models, after TGF-β1 induction, the expression of lncRNA-5829 also significantly decreased compared to the control group (P<0.001). Knockdown of lncRNA-5829 promoted the expression of fibronectin 1 (FN1) (P=0.002), collagen type I alpha 1 (Col1α1) (P=0.004), and collagen type III alpha 1 (Col3α1) (P=0.001) at the mRNA level, and FN1 (P=0.004), Col1α1 (P<0.001) at the protein level induced by TGF-β1. In contrast, overexpression of lncRNA-5829 could downregulate the expression of factors related to myocardial fibrosis, thereby inhibiting the progression of myocardial fibrosis. Overexpression of lncRNA-5829 in vivo significantly inhibited collagen deposition in the myocardial tissue of mice with MI (P=0.01) and improved cardiac function.

Conclusions: This study demonstrated that lncRNA-5829, as a new anti-fibrotic factor, may play an important role in regulating the pathological process of myocardial fibrosis, and is a potential molecular target for the treatment of cardiac fibrosis and related heart diseases.

Background: Aortic coarctation (CoA) necessitates long-term monitoring to identify late complications, including re-stenosis, aneurysms, arrhythmias and heart failure. Nonetheless, there remain gaps in understanding the effects of adverse left-ventricular (LV) remodeling at the myocardial tissue level, which may contribute to incipient heart failure. The aim of this study is to evaluate myocardial tissue characteristics in patients with CoA using advanced cardiac magnetic resonance (CMR) imaging techniques to identify markers of adverse tissue remodeling and their association with disease severity, bicuspid aortic valve (BAV), and clinical management strategies such as blood pressure (BP) medication.

Methods: CMR imaging at 3 Tesla was used to determine the myocardial extracellular volume fraction (ECV), native T1, and intracellular water lifetime (τ_ic) by pre- and post-gadolinium contrast T1 mapping in 46 patients (21 male; mean age 20 years) with CoA and 14 age-matched controls. LV volumes, mass, and ejection fraction were obtained from cine CMR. CoA was classified as low grade ["LG" = the maximum flow velocity (Vmax) ≤3 m/s and no re-stenosis, nor arterial hypertension or medication], severe CoA ("sCoA" = Vmax >3 m/s or one of LG's other variables applies), and "CoA with BAV".

Results: ECV was significantly higher in sCoA group (0.31±0.04) compared to LG group (0.26±0.02, P=0.002) and healthy controls (0.26±0.02, P=0.001). ECV with BAV (0.31±0.05) was higher than in LG group (P=0.03) and healthy controls (P=0.03). Native T1 values were significantly elevated in sCoA group (T1 =1,391±162 ms) compared to LG group (T1 =1,213±47 ms, P=0.002) and in CoA with BAV (T1 =1,390±127 ms) versus LG group (P=0.002). τ_ic was lower in LG group (0.24±0.03 s), indicative of a smaller cardiomyocyte diameter, compared to sCoA (0.28±0.04 s; P=0.01) and LG CoA with concomitant BAV (0.31±0.05 s; P=0.04). The LV end-systolic volume (ESV) was significantly higher in group with BAV than in LG CoA (P<0.001) and sCoA (P=0.001) groups. Patients who took BP medication had significantly lower values in native T1 (P=0.02) and τ_ic (P=0.03).

Conclusions: sCoA is associated with an elevated myocardial ECV and native T1 compared to LG CoAs and healthy controls, reflecting adverse tissue remodeling. Patients with LG CoA and concomitant BAV showed significantly greater diffuse myocardial fibrosis than those with isolated LG CoA. CoA patients, especially those with sCoA and those with concomitant BAV, could be at increased long-term risk for complications related to diffuse myocardial fibrosis, such as diastolic dysfunction and arrhythmias. Patients taking antihypertensive medication may benefit from reduced cardiomyocyte hypertrophy and less interstitial fibrosis.

Valvular heart diseases (VHDs) require definition of anatomy, severity, and risk stratification to best define procedural need, type of intervention and seriate follow-up. Congenital lesions are much rarer and often associated with more complex lesions. Among noninvasive imaging modalities, cardiovascular magnetic resonance (CMR) represents a fundamental tool for complete assessment and quantification of VHDs. CMR can provide wide anatomical views on cardiac and extra-cardiac structures in any plane orientation, flow and volume quantification, as well as information on ventricular remodeling and viability. In the context of valve stenosis, quantification by CMR is based primarily on direct measurement of valve orifice at maximal valve opening, although CMR data remain less reliable than standard echocardiography due to reduced temporal resolution. Definition of great vessels anatomy by CMR can allow differentiation of valvular, subvalvular or supravalvular lesions. For valve regurgitation, CMR is the gold standard for quantification of ventricular volumes and function and for direct calculation of regurgitation of the semilunar valves with through-plane phase-contrast images. Additional flow measurements can be integrated to cross-check quantitative data on great vessels flow and stroke volumes. A standardized approach is recommended in CMR studies. A minimum CMR dataset should include two-dimensional cine and phase-contrast sequences, and three-dimensional whole heart imaging. This should be applied in the clinical practice to assess VHDs, including most complex congenital lesions.

Background and objective: Recent major international society guidelines have highlighted the utility of multi-modality imaging in the evaluation of infective endocarditis (IE). This article aims to discuss the contemporary applications of multimodality imaging in IE through real-life cases, demonstrating how emerging imaging modalities, including cardiac computed tomography (CCT) and nuclear imaging techniques can be used.

Methods: A literature search of the PubMed database was performed between Jan 01, 2024 and Oct 01, 2024. Relevant articles on the subjects of "infective endocarditis" and "multi-modality imaging" were used in our review. Four clinical cases from the Cleveland Clinic Foundation were incorporated to supplement this literature review with real-world examples.

Key content and findings: This literature review encompasses international cardiology guidelines, as well as investigational studies, meta-analyses, and dedicated reviews highlighting the specific roles, strengths, and weaknesses of different imaging modalities in the evaluation of IE, including transthoracic and transesophageal echocardiography (TEE), CCT, ¹⁸F-fluorodeoxyglucose positron emission tomography (¹⁸F-FDG PET), and white blood cell single-photon emission computed tomography (WBC SPECT). This review demonstrates the emerging role for these multi-modality imaging tools in light of an increasingly complex patient population with growing numbers of prosthetic valves and devices.

Conclusions: The current literature and guidelines are discussed with reference to complex clinical cases, with the aim of illustrating the relative advantages and disadvantages, and appropriate utility of multimodality cardiac imaging in IE.