Journal of Cardiovascular Imaging最新文献

We conducted a comprehensive literature review of sarcomeric gene studies, registry analyses, and recent cohort investigations, focusing on genetic testing outcomes and clinical prognostication. Sarcomeric mutations account for approximately 60% of familial hypertrophic cardiomyopathy (HCM) cases and exhibit variable penetrance and expressivity. Additionally, mitochondrial DNA variants and nonsarcomeric genetic modifiers contribute to the phenotypic heterogeneity observed in HCM. Genetic testing facilitates diagnosis in atypical cases, guides cascade testing in families, and supports reproductive decision-making. Long-term follow-up data from registries indicate that sarcomere-positive patients are diagnosed approximately 13 years earlier and experience nearly double the 50-year incidence of adverse cardiovascular events compared to sarcomere-negative individuals. In Korean cohorts, the mutation detection rate is reported at 43.5%, with genotype-positive status independently associated with worse outcomes. However, for certain prognostic outcomes-particularly sudden cardiac death-more robust data are needed. Emerging therapies, including myosin inhibitors and gene-editing approaches, show promise in targeting the underlying molecular mechanisms of HCM. Therefore, integrating comprehensive genetic screening-including sarcomeric, mitochondrial, and modifier genes-is essential for precise risk stratification and personalized management of HCM. Future efforts should focus on refining variant interpretation and advancing genotype-guided therapeutic strategies.

Background: Accurate classification of aortic stenosis (AS) severity remains challenging despite detailed echocardiographic assessment. Adjudication of severity is informed by subjective interpretation of aortic leaflet motion from the first image parasternal long axis (PLAX) view, but quantitative metrics of leaflet motion currently do not exist. The objectives of the study were to echocardiographically quantify aortic leaflet motion using the PLAX view and correlate motion data with Doppler-derived hemodynamic indices of disease severity, and predict significant AS using these isolated motion data.

Methods: PLAX loops from 200 patients with and without significant AS were analyzed. Linear and angular motion of the anterior (right coronary) leaflet were quantified and compared between severity grades. Three simple supervised machine learning classifiers were then trained to distinguish significant (moderate or worse) from nonsignificant AS and individual severity grades.

Results: Linear and angular displacement demonstrated strong correlation with aortic valve area (r = 0.81 and r = 0.74, respectively). Severe AS cases demonstrated global leaflet motion of 2.1 mm, compared with 3.6 mm for moderate cases (P < 0.01) and 9.2 mm for control cases (P < 0.01). Severe cases demonstrated mean global angular rotation of 11°, significantly less than moderate (18°, P < 0.01) and normal cases (47°, P < 0.01). Using these novel metrics, a simple supervised machine learning model predicted significant AS with an accuracy of 90% and area under the receiver operator characteristics curve (AUC) of 0.96. Prediction of individual severity class was achieved with an accuracy of 72.5% and AUC of 0.88.

Conclusions: Advancing severity of AS is associated with significantly reduced linear and angular leaflet displacement. Leaflet motion data can accurately classify AS using a single parasternal long axis view, without the need for hemodynamic or Doppler assessment. Our model, grounded in biological plausibility, simple linear algebra, and supervised machine learning, provides a highly explainable approach to disease identification and may hold significant clinical utility for the diagnosis and classification of AS.

Mavacamten, the first selective and reversible cardiac myosin inhibitor (CMI), has been introduced to the clinical arena for the treatment of obstructive hypertrophic cardiomyopathy (HCM). By reducing excessive actin-myosin cross-bridging, this agent decreases myocardial contractility and alleviates the dynamic left ventricular outflow tract (LVOT) obstruction in obstructive HCM. In the EXPLORER-HCM trial, mavacamten significantly improved exercise capacity, symptoms, and LVOT pressure gradients, while the VALOR-HCM trial proved it can obviate the need for septal reduction therapy in patients who were deemed to be candidates for septal reduction therapy. Notably, long-term data (MAVA-LTE study) has demonstrated sustained benefits up to 180 weeks, with < 10% experiencing transient reductions in left ventricular ejection fraction < 50% and only 1.3% of permanent discontinuation rate. Aficamten, a next-generation CMI with a shorter half-life, has also demonstrated comparable efficacy. Reverse remodeling following treatment was noted in both agents. In nonobstructive HCM, preliminary studies (MAVERICK-HCM trial and cohort 4 of REDWOOD-HCM trial) have reported improvements in cardiac serum biomarkers and symptoms. However, the preliminary results from phase 3 trials (ODYSSEY-HCM trial) revealed that primary endpoints were not met in nonobstructive HCM. Regarding safety, both were generally well tolerated. Although an LVEF reduction occurred in some patients, it was reversible with a dose reduction or a short-term drug cessation. These results emphasize careful dosing strategy with regular echocardiographic monitoring. Real-world data have also demonstrated consistent efficacy and safety across varying ethnic groups without new safety signals. CMI is a major advance in HCM management. However, future studies must provide data on hard clinical outcomes, such as heart failure hospitalization or death. Ongoing trials comparing CMI to traditional first-line therapies, such as β-blockers, will clarify their potential role as an initial therapeutic option.

The diagnosis and management of left ventricular outflow tract obstruction have evolved substantially since its initial characterization by invasive cardiac catheterization nearly 70 years ago. This review traces the historical progression of our understanding of left ventricular outflow tract obstruction, with a particular focus on the pivotal role of echocardiography in redefining its detection, hemodynamic assessment, and clinical relevance, especially as its prevalence is expected to increase along with the growing aging population.

Background: Cardiovascular magnetic resonance mapping parameters-native T1 mapping, T2 mapping, and extracellular volume (ECV)-are key for diagnosing acute myocarditis under the modified 2018 Lake Louise Criteria (mLLC). This systematic review and meta-analysis evaluated their diagnostic performance and established optimal thresholds for acute myocarditis.

Methods: We reviewed articles published in the past decade utilizing parametric mapping for myocarditis diagnosis. Data on sensitivity, specificity, and area under the curve (AUC) were extracted. Quality assessment was conducted using the QUADAS-2 tool by two independent reviewers.

Results: Eleven studies with 677 patients were included. Native T1 mapping showed sensitivity of 83%, specificity of 86%, diagnostic odds ratio (DOR) of 39, and an AUC of 0.91. T2 mapping had sensitivity of 81%, specificity of 86%, DOR of 25, and an AUC of 0.89. ECV demonstrated sensitivity of 71%, specificity of 81%, DOR of 13, and an AUC of 0.83. Mean control values were 1,039 ± 39.23 ms for native T1 mapping, 57 ± 5.18 ms for T2 mapping, and 31% ± 5.60% for ECV. Optimal thresholds were 1,021 ms for native T1 mapping, 52 ms for T2 mapping, and 28% for ECV based on receiver operating characteristic curves analysis based on 1.5-T scanner value. Native T1 mapping showed the highest diagnostic accuracy. Subgroup analysis found no significant sensitivity differences based on biopsy or clinical criteria.

Conclusions: Parametric mapping, particularly native T1, demonstrated strong diagnostic performance for acute myocarditis compared to T2 mapping and ECV within the modified 2018 Lake Louise Criteria framework. Incorporating these cardiovascular magnetic resonance parameters may improve diagnostic accuracy. Further research is recommended to refine these findings and optimize diagnostic strategies.

Chronic obstructive pulmonary disease (COPD) is known to be associated with cardiovascular disease due to shared risk factors and its impact on the cardiopulmonary vasculature. Speckle-tracking echocardiography (STE) is an effective tool for identifying subclinical, COPD-associated right ventricular (RV) and left ventricular (LV) dysfunction before conventional echocardiography can detect it. A systematic review and meta-analysis of the literature on STE in COPD are presented. A systematic search was conducted of PubMed, Scopus, Cochrane Library, and Science Direct for papers published between 2011 and March 2023, and bias was assessed using the STROBE tool. Eleven studies were included in the two-stage meta-analysis: first among 742 COPD cases, and then a case-control design with 507 COPD cases and 259 healthy controls. Of the 11 studies analyzed, 6 were dedicated to the assessment of RV strain, and 5 studies examined LV global longitudinal strain (GLS). Significant heterogeneity was observed in the STE parameters of COPD patients (I² = 95%; mean effect size: -17.055 for LV GLS and -19.098 for RV free wall strain; Z = -35.809; P < 0.001) and between COPD patients and controls (I² = 92%; mean effect size, 2.100; Z = 8.433; P < 0.0001). LV and RV STE parameters were lower in the COPD group than in the healthy control group. The two-dimensional STE parameters correlated with disease severity metrices such as the BODE (body mass index, airflow obstruction, dyspnea, and exercise) index and Global Initiative for Chronic Obstructive Lung Disease (GOLD) classification, and they predicted mortality, hospitalization rates, and exercise tolerance in COPD patients. STE abnormalities are prevalent in COPD patients and can help identify subclinical LV and RV dysfunction. The presence of STE abnormalities helps in prognostication for COPD patients.

Background: Ventricular-arterial coupling (VAC) plays a crucial role in the initiation and progression of heart failure in patients with coronary artery disease. The influence of VAC on left ventricular (LV) function may vary depending on LV systolic function. This study investigated the relationship between VAC and LV function in patients with acute myocardial infarction (AMI), stratified by ejection fraction (EF).

Methods: Echocardiographic indices of LV volumes, systolic function, and diastolic function were measured using standard techniques. Effective arterial elastance (E_A) was calculated based on stroke volume derived from the LV outflow waveform. Effective LV end-systolic elastance was determined using the single-beat method. The central aortic pressure waveform was recorded via applanation tonometry. Characteristic impedance (Zc) of the aortic root was calculated using Fourier transformation of both aortic pressure and flow waveforms.

Results: A total of 85 patients (mean age, 58.5 ± 10.6 years) with AMI were enrolled. They were classified into two groups: those with reduced EF (< 50%, 27 patients) and those with preserved EF (≥ 50%, 58 PATIENTS). In the adjusted linear regression analysis, E' velocity was significantly associated with VAC (β = -0.310, P = 0.008) in the preserved EF group but not in the reduced EF group. LV global longitudinal strain showed significant positive associations with VAC (β = 0.505, P < 0.001), E_A index (β = 0.536, P < 0.001), and Zc (β = 0.344, P = 0.018) exclusively in the preserved EF group.

Conclusions: The distinct influence of EF status on the relationships between hemodynamic parameters and LV diastolic and systolic functions suggests a differential interplay between arterial and ventricular dynamics depending on LV systolic function.

Background: There are insufficient studies to determine whether sodium-glucose cotransporter type 2 inhibitors (SGLT2i) will help reduce early diabetic cardiomyopathy, especially in patients without documented cardiovascular disease.

Methods: We performed a single center, prospective observation study. A total of 90 patients with type 2 diabetes patients without established heart failure or atherosclerotic cardiovascular disease were enrolled. Echocardiography, cardiac enzyme, and glucose-control data were examined before and 3 months after the administration of SGLT2i (dapagliflozin 10 mg per day). Cardiovascular risk factors included hypertension, smoking, obesity, dyslipidemia, and old age. The primary end point was the change of E/e' before and after administration of SGLT2i.

Results: Most patients (86.7%) had three or more cardiovascular risk factors, and about 32% had all five risk factors. Although the decrease in E/e' after the administration of SGLT2i was observed in 20% of enrolled patients, there was no significant difference in average E/e' value or left atrial volume index before and after the SGLT2i medication. Even in patients with all known risk factors including old age, E/e' value did not decrease after adding SGLT2i (8.9 ± 2.4 vs. 8.7 ± 3.2). There was a statistically significant difference in E/e' change after the SGLT2i administration between patients younger than 60 years and those older than 60 years (-0.7 ± 2.2 vs. 1.1 ± 2.8, P = 0.002).

Conclusions: In type 2 diabetes patients without documented cardiovascular disease including heart failure, administration of SGLT2i showed no improvement in diastolic function profile. Further large-scale randomized studies are needed to determine who will benefit from potential cardiovascular events with early addition of SGLT2i.