Journal of Cardiovascular Development and Disease最新文献

Mitral regurgitation (MR) is one of the most prevalent valvular disorders worldwide, with a growing burden driven by population aging and improved diagnostic capabilities. Understanding the mechanism of MR, whether primary, due to intrinsic valve abnormalities, or secondary, resulting from atrial or ventricular remodeling, is essential for optimal management. Echocardiography, particularly advanced modalities such as three-dimensional imaging and strain analysis, plays a central role in this process. It allows accurate quantification of MR severity, detailed characterization of valve and ventricular anatomy, and assessment of remodeling, all of which are critical for determining the optimal timing for intervention. Beyond diagnosis, echocardiography is indispensable in guiding therapy selection: it informs surgical planning by defining leaflet pathology for repair versus replacement strategies, and directs transcatheter interventions by guiding interatrial septal puncture, catheter orientation, and device deployment in real time. While surgery remains the gold standard for primary MR, transcatheter approaches including edge-to-edge repair and emerging mitral valve replacement are increasingly relevant, particularly in patients at high surgical risk or with complex anatomy. This review emphasizes the pivotal role of echocardiography in the pre-procedural assessment of MR, highlighting its ability to integrate anatomical, functional, and hemodynamic information to guide patient-tailored therapeutic strategies and optimize outcomes within a Heart Team framework.

Hypertrophic cardiomyopathy (HCM) progressing to end-stage heart failure and heart transplantation (HT) is a rare clinical scenario with an insufficiently explored genetic background. In this single-center retrospective cohort study, we aimed to characterize the genetic spectrum, variants of HCM adverse remodeling, and aspects of molecular pathogenesis of this subgroup. The study included 14 patients (9 females), among whom 10 developed a dilated/hypokinetic phenotype and 4 a restrictive phenotype. In 13 patients (93%), at least one pathogenic or likely pathogenic genetic variant was identified. Dilated remodeling/hypokinesis was associated with loss-of-function variants in LAMP2 (3) in females, ALPK3homo (1), MYH7 (1), MYBPC3 (1), a heterozygous missense variant in TRIM63 (1), FLNCtv (1), TTNtv (2). For the latter two, electrophoretic analysis of titin isoform composition and protein content in myocardial fragments from explanted hearts confirmed the functional significance of TTN gene variants. The restrictive phenotype in the adult group was associated with carriage of multiple pathogenic sarcomere gene variants: MYL3homo (1), MYBPC3+TPM1 (1), an MYH7 converter domain variant (1), and, in one child, with a TNNT2 variant. This findings support HCM progressing to HT is characterized by a higher frequency of variants in non-sarcomeric genes and Danon disease compared to the general HCM cohort.

Background: Animal models are essential for translating diagnostic and therapeutic strategies into clinical practice and offer valuable insights into the pathophysiology of diseases such as aortic dissection. This study presents a novel acute in vivo large animal model of Stanford type A aortic dissection, combining open surgical access with endovascular techniques to leverage the advantages of both. The model aims to reproducibly simulate acute dissections in swine, providing a standardized platform for evaluating diagnostics, disease mechanisms, and treatment strategies.

Methods: Six pigs underwent a standardized protocol to induce aortic dissection. Arterial pressure was monitored via femoral and carotid catheterization. A conventional sternotomy was performed, followed by tangential cross-clamping of the ascending aorta and a controlled incision proximal to the brachiocephalic trunk. The intima and the media were separated using a guidewire and catheter-based technique to create a false lumen. A re-entry tear was also established to allow for controlled intraluminal access. Animals were monitored for 12 h post-intervention, with serial blood sampling. At the end of the experiment, the animals were euthanized and the aortas harvested for macroscopic and histological analysis.

Results: In all 6 animals, the placement of arterial catheters in femoral and carotid arteries, as well as the sternotomy, was established without any complications. The dissection model was successfully created in 5 out of 6 animals by clinical signs such as adventitial hematoma, macroscopic wall separation and/or decreased femoral blood pressure. One animal experienced complete aortic perforation. Five animals completed the full observation period of 12 h.

Conclusion: A standardized, reproducible, and robust large animal model of acute Stanford type A aortic dissection using a hybrid approach was developed. This model closely simulates the clinical and pathological features of human aortic dissection, making it a valuable tool for preclinical research in diagnostics, pathophysiology, and treatment development.

This retrospective study evaluated the clinical utility of Virtual Reality (VR) in visualizing extracardiac CHD (eCHD) abnormalities involving great vessels, pericardium, or structures outside the heart in nine pediatric patients. Anonymized computed tomography angiography (CTA) DICOM images were processed using Elucis (Version 1.10 elucis next) software to generate interactive 3D models via segmentation. VR models were reviewed for a variety of cases: vascular rings (two with right aortic arch, aberrant left subclavian artery, and diverticulum of Kommerell; two with double aortic arch), pericardial teratomas (n = 2), right superior vena cava draining into the left atrium (n = 1), left pulmonary artery sling (n = 1), and aortopulmonary window (n = 1). VR video images were presented during weekly heart center conferences. A survey conducted among heart center staff assessed the perceived value of VR in clinical practice. A total of 62% found traditional diagnostic modalities very effective, 100% considered VR a valuable diagnostic tool, 65% responded positively to VR image resolution, 50% highlighted its educational benefit, 81% believed VR enhanced diagnostic accuracy and surgical planning, and 100% would recommend its use to colleagues. This study demonstrates the successful integration of VR-based segmentation into clinical workflows, underlining its potential as both an educational resource and a tool to support diagnostic and surgical decision-making.

Background: Coronary computed tomography angiography (CCTA) is a non-invasive imaging tool used predominantly in suspected chronic coronary artery disease (CAD) patients, due to its high negative predictive value. However, increasing focus has been placed on CCTA to manage and risk stratify acute chest pain patients in emergency departments (ED).

Objective: This scoping review summarizes the available evidence on the role of CCTA to exclude acute coronary syndrome (ACS) in low-risk acute chest pain patients, focusing on its diagnostic accuracy, safety, and application in the context of high sensitivity cardiac troponin assays (hs-cTn).

Methods: Articles published between January 2015 and March 2025 investigating CCTA use in low-risk acute chest pain patients were retrieved from Medline, Embase, Emcare, and Web of Science databases.

Results: 22 articles (13,617 patients) were retrieved. CCTA had strong diagnostic performance, with an excellent negative predictive value (99.8-100%) and sensitivity (94-100%) for ACS diagnosis and prediction of major adverse cardiovascular events. Specificity and positive predictive values were lower and less consistent. When combined with hs-cTn, the diagnostic accuracy of CCTA for ACS was improved significantly. CCTA was associated with low rates of ACS at follow-up (0-3.5%), which were lower than or comparable to the safety outcomes of standard care and stress testing.

Heart failure (HF) is becoming increasingly common, especially in older females, and displays marked sex-related differences in pathophysiology, treatment, and outcomes. Submaximal exercise capacity (SEC), frequently measured by the six-minute walk test (6MWT), is an important marker of aerobic function, prognosis, and quality of life in HF. However, evidence regarding sex differences in SEC remains limited and inconsistent. This single-centre, prospective cohort study included 1069 patients with chronic HF enrolled between 2004 and 2014. SEC was assessed using the 6MWT, and extensive clinical and psychosocial data were collected. Multivariate models evaluated the independent association between sex and SEC. Results showed that females had significantly shorter 6MWT distances (155 ± 149 m) than males (265 ± 164 m; p < 0.001). Female sex was an independent predictor of impaired SEC in both unadjusted and adjusted analyses (odds ratios 2.226-3.609; p < 0.001). Additional determinants of reduced SEC included advanced age, higher NYHA class, elevated heart rate, diabetes, iron deficiency, dependence in activities of daily living, cognitive impairment, and depressive symptoms. These findings demonstrate that female sex is a strong, independent predictor of reduced functional capacity in chronic HF and emphasize the need for sex-specific strategies addressing both clinical and psychosocial factors to improve outcomes.

This study investigates FLNC mutations in Chinese cardiomyopathy patients. Background: Inherited cardiomyopathies, including dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC) are major heart failure causes. FLNC, critical for muscle structure, is implicated in myofibrillar myopathy and isolated DCM (3-4% cases) with ventricular arrhythmias. Missense variants are linked to HCM and protein aggregation. A cohort of 25 patients with pathogenic/likely pathogenic FLNC mutations (2022-2025, Beijing Anzhen Hospital) underwent whole-exome sequencing (WES) using IDT kit 1.0/Hiseq 4000. Variants were classified via the American College of Medical Genetics and Genomics (ACMG) guidelines. Clinical data (echocardiography, CMR, labs) and follow-up data (prognosis, meds, and family history) were collected. The statistics used SPSS (p < 0.05). The mean age was 38 ± 14.6 years (13 males). There were 25 FLNC mutations: 12 single nucleotide polymorphisms (SNPs), 5 deletions, 2 duplications, and 3 deletion-insertions, classified as 6 pathogenic, 16 likely pathogenic, and 3 variants of uncertain significance (VUS). Diagnoses: 24% dilated cardiomyopathy (DCM), 8% hypertrophic cardiomyopathy (HCM), and 4% left ventricular non-compaction. Nonsense mutation carriers exhibited significantly higher tricuspid regurgitation prevalence compared to frameshift mutation carriers (6/9 vs. 2/10; p = 0.04). Echocardiography revealed reduced left ventricular ejection fraction (LVEF) (41.5 ± 14.1%), with statistically significant differences in fractional shortening (p = 0.024) and aortic root diameter (p = 0.028). Pedigree analysis confirmed that a frameshift mutation (LP) co-segregated with familial DCM and was associated with severe phenotypes, including sudden cardiac death. Furthermore, nonsense FLNC mutations correlated with increased tricuspid regurgitation severity, smaller aortic root dimensions, and reduced pulmonary artery flow velocity.

Mitral annular calcification makes conventional mitral valve surgery extremely challenging and has led to growing interest in less invasive alternatives such as transcatheter mitral valve replacement. Alongside percutaneous approaches, some centers have explored open transatrial implantation of transcatheter heart valves in patients with heavily calcified annuli. This systematic review examines the current evidence on this hybrid "valve-in-MAC" technique, tracing its clinical evolution, technological refinements, patient outcomes, and ongoing debates. Key themes emerging from the literature include the adaptation of existing balloon-expandable and mitral-specific devices to the complex anatomy of calcified mitral annuli, the open transatrial approach as a safer alternative to extensive surgical debridement, and advances in imaging and device design aimed at reducing left ventricular outflow tract obstruction and paravalvular leak. Persistent uncertainties remain, particularly regarding patient selection, long-term valve performance, and comparisons with conventional surgical repair or replacement. Although open transatrial implantation appears technically feasible and provides favorable hemodynamic results compared with fully percutaneous procedures, reported 30-day mortality remains high (approximately 19-27%). This reflects the advanced age, frailty, and multiple comorbidities typical of this patient group rather than procedural shortcomings. Current evidence is limited, with few comparative studies and little data on valve durability. Future work should prioritize multicenter prospective registries and well-designed comparative studies to better define the role of this emerging salvage strategy.

Pocket hematoma is a common complication following cardiac implantable electronic device (CIED) implantation, traditionally perceived as a manageable local issue. Accumulating evidence, however, indicates that clinically significant pocket hematoma (CSH) is strongly associated with increased infection rates, elevated healthcare costs, and heightened mortality. Key risk factors include advanced age, low body mass index (BMI), chronic kidney disease, complex procedures (device upgrades/replacements) and periprocedural antithrombotic management, particularly uninterrupted dual antiplatelet therapy (DAPT) and heparin/low-molecular-weight heparin (LMWH) bridging strategies, which significantly elevate bleeding risk compared to continued vitamin K antagonist (VKA) therapy or direct oral anticoagulant (DOAC) protocols. Novel compression devices and topical hemostatic agents show promise for prevention, while standardized definitions and risk stratification tools are urgently needed. This review synthesizes current evidence on multifactorial pathogenesis, adverse outcomes, and evolving preventive strategies for pocket hematoma, emphasizing its underappreciated clinical significance and the critical need for optimized periprocedural management in high-risk patients.

Cardiogenic shock (CS) is a heterogeneous pathophysiological state with high mortality, despite the development of cardiac intensive care units (CICUs) and the advanced treatments applied. The cornerstones of therapy that have been proposed in many algorithms are intravenous (i.v.) pressors and devices for mechanical circulatory support (MCS), depending on the CS profile (left, right, or biventricular involvement), etiology (acute myocardial infarction, heart failure, or other) and SCAI stage (A to E, with MCS generally recommended for Stages C-E). There are many gaps in the evidence regarding i.v. medications and devices, with the existing data being controversial. Moreover, there are differences in the devices' availability and, as a result, a lack of experience in many centers. In this review article, an algorithm for the management of CS is proposed, and the gaps in every step are presented. Early clinical suspicion that leads to prompt diagnosis, health system organization, large-scale trials, and the configuration of national or regional shock centers could bridge the current therapeutic gaps and balance disparities in the management of CS in order to improve outcomes.